| Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
| Uridine-Cytidineuria |
|
Elevated urinary uridine level, Elevated urinary cytidine |
OMIM:618477 |
| Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
| Neuroblastoma |
|
Elevated urinary catecholamine level |
ORPHA:635 |
| Pentosuria |
|
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... |
ORPHA:2843 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Gastric Cancer |
|
Increased level of L-fucose in urine |
OMIM:613659 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
| RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus, Multiple renal cysts |
DECIPHER:47 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis, Pulmonic stenosis |
OMIM:264140 |
| Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipi... |
OMIM:232220 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
| Vesicoureteral Reflux 8 |
|
Vesicoureteral reflux, Duplicated collecting system, Recurrent urinary tract infections |
OMIM:615963 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hydroureter, Intest... |
ORPHA:2970 |
| Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... |
OMIM:615382 |
| Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Lessel-Kubisch Syndrome |
|
Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia |
OMIM:618681 |
| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
| Wolfram Syndrome, Mitochondrial Form |
|
Diabetes mellitus, Diabetes insipidus, Hydronephrosis, Hydroureter |
OMIM:598500 |
| Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Urethral valve, Hydroureter, Cryptorchidism, Urethral obstruc... |
OMIM:236730 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Renal agenesis, Abnormality of the endocrine system, Ureteral agenesis, Ureteral dysgenesis, Anal... |
OMIM:274265 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Holzgreve Syndrome |
|
Renal agenesis, Hypoplastic left heart, Renal hypoplasia, Cleft palate |
OMIM:236110 |
| Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Maternal diabetes, Ectopic kidney, Cry... |
ORPHA:3027 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria |
ORPHA:419 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Renal hypo... |
OMIM:615996 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia |
OMIM:613730 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Pyloric stenosis, Hydroureter, Nephrolithiasis |
OMIM:617219 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
| Wolfram Syndrome 1 |
|
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Cardiomyopathy, Hypothyro... |
OMIM:222300 |
| Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... |
OMIM:620056 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa... |
OMIM:145001 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
| Vesicoureteral Reflux 3 |
|
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... |
OMIM:613674 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
| Pelvic Lipomatosis With Crossed Renal Ectopia |
|
Ectopic kidney |
OMIM:169545 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the spleen, Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Multiple renal... |
ORPHA:1166 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Pancreatic cysts... |
OMIM:208500 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the blad... |
ORPHA:2547 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Renal cyst |
OMIM:615987 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
| Hematuria, Benign Familial, 1 |
|
Hematuria, Thin glomerular basement membrane |
OMIM:141200 |
| Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Bilateral cryptorchidism, Nephroptosis |
OMIM:617564 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Hepatic cysts, Glomerular subepithelial immune-complex de... |
OMIM:614377 |
| Schizophrenia 1 |
|
Partially duplicated kidney, Renal agenesis, Ectopic kidney |
OMIM:181510 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta... |
OMIM:191800 |
| X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, High palate, Hydronephrosis |
ORPHA:85285 |
| Prune Belly Syndrome |
|
Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Ana... |
OMIM:100100 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Renal dysplasia, Ectopic kidney |
ORPHA:2578 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Ectopic kidney, Cryptorchidism, Abnormal heart... |
ORPHA:401935 |
| Hereditary Central Diabetes Insipidus |
|
Lethargy, Polydipsia |
ORPHA:30925 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Seckel Syndrome 8 |
|
Ectopic kidney |
OMIM:615807 |
| Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... |
ORPHA:2704 |
| Seckel Syndrome 2 |
|
Microglossia, Hypospadias, Heart murmur, Ectopic kidney |
OMIM:606744 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hepa... |
ORPHA:699 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Bifid uvula, Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
| Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... |
OMIM:616818 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... |
OMIM:610205 |
| Deafness, Autosomal Dominant 23 |
|
Vesicoureteral reflux |
OMIM:605192 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitati... |
OMIM:173900 |
| Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Unilateral renal agenesis |
ORPHA:2512 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, ... |
OMIM:263520 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia |
OMIM:614859 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
| Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Ureterovesical stenosis |
OMIM:268650 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria |
ORPHA:2613 |
| Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
| Noonan Syndrome 9 |
|
Cryptorchidism, Hydroureter, Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:613944 |
| Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Aplasi... |
ORPHA:564 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Ureteral stenosis, Hydroureter, Osteoporosis, Hypercalciuria, Renal cyst, Nephrocalci... |
OMIM:615398 |
| Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
| Hydroxyprolinemia |
|
Hydroxyprolinemia, Microscopic hematuria |
OMIM:237000 |
| Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
| Vesicoureteral Reflux, X-Linked |
|
Vesicoureteral reflux |
OMIM:314550 |
| Vesicoureteral Reflux 1 |
|
Vesicoureteral reflux |
OMIM:193000 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... |
OMIM:618061 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Re... |
OMIM:615993 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
| Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
| 12Q14 Microdeletion Syndrome |
|
Diabetes mellitus, Intestinal malrotation, Ectopic kidney, Tremor, Abnormality of the spleen, Ost... |
ORPHA:94063 |
| Hypersulfaturia |
|
Increased urinary sulfate, Nephrolithiasis |
OMIM:620372 |
| Even-Plus Syndrome |
|
Recurrent urinary tract infections, Vesicoureteral reflux, Renal hypoplasia, High palate, Atrial ... |
OMIM:616854 |
| Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
| Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Duodenal ... |
ORPHA:2470 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers... |
OMIM:613095 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Unilateral renal agenesis, Ureteral atresia, Bilateral renal agenesis, Hyp... |
OMIM:618845 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... |
OMIM:301068 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney |
OMIM:602200 |
| Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Renal hypoplasia, Pulmonic stenosis, Ectopic kidney |
OMIM:212780 |
| Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Nephrogenic diabetes insipidus, Functional abnormality of the b... |
ORPHA:223 |
| Femoral-Facial Syndrome |
|
Maternal diabetes, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Cleft palate, Abnormal l... |
ORPHA:1988 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomega... |
OMIM:610199 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Cleft palate, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged... |
OMIM:613885 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia, Anteriorly placed anus, Hypo... |
OMIM:617661 |
| Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
| Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
| Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, High palate, Atrial septal ... |
OMIM:612946 |
| Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft palate, Renal agenesis, Unilateral renal agenesis, Ectopic kidney |
OMIM:601076 |
| Mody |
|
Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin-resistant diabetes melli... |
ORPHA:552 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Hypertension, Hypophospha... |
OMIM:618913 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Renal hypoplasia, ... |
ORPHA:464288 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption, Hypercalciuria, Macronodular c... |
OMIM:557000 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension |
OMIM:607832 |
| Codas Syndrome |
|
Extrahepatic biliary duct atresia, Hydroureter, Ventricular septal defect |
ORPHA:1458 |
| Focal Segmental Glomerulosclerosis 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... |
OMIM:613237 |
| Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis, Intestinal malrotation |
OMIM:249210 |
| 8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux |
ORPHA:228399 |
| Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, High, narrow palate, Hyperinsulinemia, Abnorma... |
ORPHA:2849 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Abnormal autonomic nervous system physiology, Att... |
ORPHA:369873 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal... |
OMIM:616589 |
| Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimu... |
ORPHA:95717 |
| Dextrocardia |
|
Meckel diverticulum, Abnormal EKG, Dextrocardia, Intestinal malrotation, Situs inversus totalis, ... |
ORPHA:1666 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology, Polyc... |
OMIM:608776 |
| Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Dilated cardiomyopathy, Renal hypoplasia, 3-Methylglutaconic aciduria, Hypogonadism... |
ORPHA:254913 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal... |
OMIM:618142 |
| Idiopathic Hypercalciuria |
|
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... |
ORPHA:2197 |
| Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
| Intellectual Developmental Disorder, X-Linked 99 |
|
Hypospadias, Ectopic kidney |
OMIM:300919 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic... |
OMIM:608836 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia, Polycystic kidney dysplasia |
OMIM:211890 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Abnormal mesentery morphology, Re... |
ORPHA:2256 |
| Keratoconus Posticus Circumscriptus |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Cleft palate |
OMIM:244600 |
| Bresek Syndrome |
|
Renal dysplasia, Hypoplasia of the bladder, Aganglionic megacolon, Cryptorchidism, Renal hypoplas... |
ORPHA:85284 |
| 8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Adrenal insufficiency, Pulmonic stenosis, Tetralogy of Fallot, Hydrone... |
ORPHA:251076 |
| Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Ectopic kidney, Renal hypoplasia/aplasi... |
ORPHA:93929 |
| Familial Visceral Myopathy |
|
Hyperparathyroidism, Hydroureter, Aganglionic megacolon, Megacystis, Cleft palate, Abdominal situ... |
ORPHA:2604 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
| Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
| Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
| Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta... |
ORPHA:97362 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, High, narrow... |
ORPHA:228308 |
| Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Crossed fused renal ectopia, Horseshoe kidney, Median cleft lip and palate |
ORPHA:2213 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Ectopic kidney, Cleft palate, Abnormal heart morphology |
OMIM:239800 |
| Image Syndrome |
|
Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hypogonadism, Hydronephrosis |
ORPHA:85173 |
| Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Renal hypoplasia, Peri... |
OMIM:611376 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hyperlipidemia, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epit... |
ORPHA:157 |
| Branchiootorenal Syndrome 1 |
|
Renal dysplasia, Renal malrotation, Intestinal malrotation, Unilateral renal agenesis, Renal stea... |
OMIM:113650 |
| Mandibulofacial Dysostosis With Alopecia |
|
Glossoptosis, Hydroureter, Bicuspid aortic valve, Cleft palate |
OMIM:616367 |
| Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Proteinuria, Maturity-onset diabetes of the young, Unilateral ren... |
OMIM:137920 |
| Carpenter Syndrome 1 |
|
Hydroureter, Ventricular septal defect, Sagittal craniosynostosis, Precocious puberty, Cryptorchi... |
OMIM:201000 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
| Split-Hand/Foot Malformation 3 |
|
High palate, Renal hypoplasia, Cleft palate |
OMIM:246560 |
| Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Patent foramen ... |
OMIM:609053 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Distal urethral duplication, Maternal diabetes, Renal hypoplasia/aplasia, Cleft palate, Ectopic a... |
ORPHA:2549 |
| Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... |
ORPHA:105 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
| Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
| Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Abnormal circulating corticosterone level, Elevated serum 11-deoxycortis... |
ORPHA:556037 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst |
OMIM:236500 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... |
ORPHA:2973 |
| Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico... |
ORPHA:107 |
| 17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Diabetes mellitus, Renal hypoplasia/aplasia, C... |
ORPHA:261265 |
| Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Abnormal circulating corticosterone level, Elevated serum 11-deoxycortis... |
ORPHA:556030 |
| Central Diabetes Insipidus |
|
Lethargy, Polydipsia, Anorexia |
ORPHA:178029 |
| Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Abnorm... |
ORPHA:1926 |
| Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla... |
OMIM:600057 |
| Czeizel-Losonci Syndrome |
|
Dextrocardia, Tracheoesophageal fistula, Ureteral agenesis, Congenital megaureter, High palate, H... |
ORPHA:2437 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
| Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Hydroureter, Maternal diabetes, Rectal fistula... |
ORPHA:49 |
| Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,... |
ORPHA:2924 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... |
ORPHA:3032 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Orthostatic hypotension, Increased circulating corticosterone level, Renal salt wasting, Increase... |
OMIM:610600 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Hypogonadism, Cystic renal dysplasia |
OMIM:615989 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulating hormone co... |
ORPHA:226313 |
| Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, Hypogonadism, Abnormality of the kidney, Renal cyst |
OMIM:615982 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Congestive heart failure, Lacticaciduria, Ab... |
ORPHA:26791 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil... |
OMIM:619902 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Decreased skull ossification, Polycystic kidney dysplasia, Abnormal heart mo... |
OMIM:263210 |
| Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Renal hypoplasia |
OMIM:600151 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
| Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney dis... |
ORPHA:261222 |
| Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Renal agen... |
OMIM:115470 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Cryptorchidism, Renal hypoplasia, Micropenis |
ORPHA:171839 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Multinodular goiter |
ORPHA:2091 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Vesicoureteral reflux, Abnorm... |
ORPHA:3208 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Dilated cardiomyopa... |
OMIM:616541 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Unilateral renal agenesis, High, narrow palate, Cryptorchidism, Renal ... |
OMIM:618494 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomy... |
OMIM:614922 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Intestinal malrotation, Portal hypertension, Microcolon, Megacystis, Hydronephrosis |
OMIM:619431 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Ketonuria, Renal hypoplasia, High palate, Hypertrophic cardiomyopathy |
OMIM:619053 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypoplasia of penis, Cardiac arrest, Hypothermia, Cryptorchidism, Arrhythmia |
ORPHA:168593 |
| Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
| Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
| Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Polydipsia, Epistaxis |
ORPHA:403 |
| Meningococcal Meningitis |
|
Shock, Fever, Renal insufficiency, Anorexia, Hypothermia, Irritability, Hypotension |
ORPHA:33475 |
| Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
| Senior-Boichis Syndrome |
|
Polydipsia, Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, M... |
ORPHA:84081 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Valvular pulmonary stenosis, Vesic... |
OMIM:300707 |
| Panhypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Polydipsia, Reduced ... |
ORPHA:95513 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Hypothermia, Dysplastic testes, Cryptorchidism, Testicular dysgenes... |
OMIM:608800 |
| Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Micropenis, Tetralogy of Fallot, Renal hypoplasia |
OMIM:617926 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria |
OMIM:604273 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal age... |
ORPHA:2237 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Cleft palate, Macroglossia, Hypoplastic l... |
ORPHA:261290 |
| Cach Syndrome |
|
Progressive neurologic deterioration, Renal hypoplasia, Hepatosplenomegaly, Irritability, Cogniti... |
ORPHA:135 |
| Rhyns Syndrome |
|
Hypopituitarism, Abnormality of the liver, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Unilateral renal hypoplasia |
OMIM:619955 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... |
OMIM:235510 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the ureter |
ORPHA:1046 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruction, Renal dysplasia, Anal... |
OMIM:601389 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Neoplasm of the heart, Cryptor... |
ORPHA:2241 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Cleft palate, Congenital... |
ORPHA:261344 |
| Cat-Eye Syndrome |
|
Abnormal localization of kidney, Hydronephrosis, Anal atresia, Renal hypoplasia/aplasia |
ORPHA:195 |
| Distal Deletion 12Q |
|
Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Ectopic kidne... |
ORPHA:96149 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Micropenis, De... |
ORPHA:90793 |
| Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614870 |
| Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart morph... |
ORPHA:314588 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Abnormality of the anterior pituitary, Renal hypoplasia, Posterior pit... |
ORPHA:75389 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disea... |
OMIM:614376 |
| Koolen-De Vries Syndrome |
|
Ureteral duplication, Bicuspid aortic valve, Hypospadias, High, narrow palate, Cryptorchidism, Py... |
ORPHA:96169 |
| Burn-Mckeown Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Cleft palate, Atrial sept... |
OMIM:608572 |
| Netherton Syndrome |
|
Aminoaciduria, Malabsorption, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
| Mosaic Variegated Aneuploidy Syndrome 3 |
|
Cleft palate, Nephroblastoma, Horseshoe kidney |
OMIM:617598 |
| Oculoskeletodental Syndrome |
|
Hypercalcemia, Dysplastic corpus callosum, Nephrocalcinosis, Hypocalcemia, Enamel hypoplasia, Abn... |
ORPHA:557003 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Hypothermia, Ventricular tachycardia, Oliguria, Cardiomyopat... |
ORPHA:159 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal insufficiency, Hypoplasia of penis, Telangiectasia of the skin, Cryptorchidism, Renal hypop... |
ORPHA:85321 |
| Juberg-Hayward Syndrome |
|
Anteriorly placed anus, Decreased response to growth hormone stimulation test, Horseshoe kidney |
OMIM:216100 |
| Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis |
ORPHA:568 |
| Joubert Syndrome 22 |
|
Renal hypoplasia |
OMIM:615665 |
| Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Portal hypertension, Cardiomyopathy, Arthrogryposis multiplex congenita,... |
OMIM:232500 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Cryptorchidism, Hypothyroidism, Renal hypoplasia, Delayed puberty |
OMIM:616817 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Aortic regurgitation, Renal insufficiency, Renal agenesis, Mitral atresia, Ectopic kidney, Horses... |
ORPHA:140952 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Cleft palate, Abnormal h... |
OMIM:214110 |
| Webb-Dattani Syndrome |
|
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:615926 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ... |
ORPHA:71529 |
| Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Vesicoureteral reflux, Ren... |
OMIM:603467 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis, Cleft palate |
OMIM:618265 |
| Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Vesicoureteral reflux, Renal hypoplasia, Hypoplastic left heart, Aor... |
OMIM:617660 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Ventricula... |
ORPHA:2461 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Ectopic kidney, Cry... |
OMIM:227646 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Unilateral renal agenesis, Hiatus hernia, Mitral valve prolapse, Vesic... |
OMIM:606408 |
| Roifman-Chitayat Syndrome |
|
Osteopenia, Ectopic kidney |
OMIM:613328 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Hypoplastic left heart, Cleft palate, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Hepatoblastoma, Cardiomegaly, Adrenocortical carcinoma, ... |
OMIM:130650 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Short uvula, Renal hypoplasia, Renal cyst, Cleft palate, High palate, Hepatic fibros... |
OMIM:614091 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Multiple joint contractures, Hypergonadotropic hypogonadism, Hypospadias, Supraventricular arrhyt... |
ORPHA:2959 |
| Fanconi Anemia, Complementation Group W |
|
Duodenal atresia, Decreased response to growth hormone stimulation test, Polysplenia, Renal hypop... |
OMIM:617784 |
| Verheij Syndrome |
|
Ventricular septal defect, Renal agenesis, Renal hypoplasia, Cleft palate, Renal cyst, Truncus ar... |
OMIM:615583 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hepatomegaly, Ventricular septal defect, Hypospadias, Cryptorchidis... |
OMIM:301056 |
| Odontochondrodysplasia 1 |
|
Delayed ossification of carpal bones, Osteoporosis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia |
OMIM:617914 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Cryptorchidism, Submu... |
OMIM:619103 |
| Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Vesicoureteral reflux, Prolonged neonatal jaundice |
OMIM:618828 |
| Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ... |
ORPHA:95512 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
| Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Ectopic kidney, Cry... |
OMIM:227650 |
| Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Intest... |
ORPHA:1756 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Hypospad... |
ORPHA:209905 |
| Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Ectopic kidney, Cry... |
OMIM:600901 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Renal hypo... |
OMIM:601186 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c... |
OMIM:265380 |
| Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
| 1Q44 Microdeletion Syndrome |
|
Intestinal malrotation, Horseshoe kidney, Abnormal cardiac septum morphology, High palate, Vesico... |
ORPHA:238769 |
| Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
| Fanconi Anemia, Complementation Group O |
|
Cryptorchidism, Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morpho... |
OMIM:613390 |
| Joubert Syndrome 18 |
|
Ventricular septal defect, Cleft palate, Renal cyst, Horseshoe kidney, Lobulated tongue, Intrahep... |
OMIM:614815 |
| Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney |
OMIM:613630 |
| Meckel Syndrome 12 |
|
Ureteral hypoplasia, Bifid uvula, Bilateral renal agenesis, Renal hypoplasia |
OMIM:616258 |
| Short Stature, Brussels Type |
|
Horseshoe kidney |
ORPHA:2867 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... |
ORPHA:79404 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
| Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Hydrocele testis, Renal hypoplasia, Horseshoe kidney |
OMIM:266810 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Osteopenia, Hypertriglyceridemia, Craniosynostosis, Precocious puberty, High,... |
ORPHA:369837 |
| Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
| Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Renal cyst |
OMIM:174050 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, My... |
ORPHA:892 |
| Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Complex organic aciduria, Agenesis of corpu... |
ORPHA:506 |
| Pure Autonomic Failure |
|
Orthostatic hypotension, Dysuria, Urinary incontinence, Abnormality of circulating catecholamine ... |
ORPHA:441 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter... |
ORPHA:64744 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Hydronephrosis, Fetal megacystis, Microcolon |
OMIM:619362 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... |
OMIM:220210 |
| Ellis Van Creveld Syndrome |
|
Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadia... |
ORPHA:289 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... |
ORPHA:49041 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Vesicoureteral reflux, Cryptorchidism, Renal atrophy, Hypospadias |
OMIM:618659 |
| Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Vesicoureteral reflux, Mitral regurgitation, ... |
OMIM:615879 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Vesicoureteral reflux, Cleft palate, Atrial septal defect, Patent fora... |
OMIM:614261 |
| Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Carcinoid tumor, Internal hemorrhage, H... |
ORPHA:805 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Ventricular septal defect, Bicuspid aortic valve, Hypos... |
ORPHA:261494 |
| Congenital Myopathy 19 |
|
Cryptorchidism, Renal atrophy, High palate, Hydronephrosis |
OMIM:618578 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Unilateral renal agenesis, Supernumerary nipple, Secundum atrial septal defect, Cryptorchidism, V... |
OMIM:619951 |
| Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
| Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis |
ORPHA:3033 |
| Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Choreoathetosis, Hypertens... |
OMIM:617595 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... |
OMIM:617394 |
| Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
| Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Ve... |
OMIM:617159 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hepatic fibrosis, Steato... |
OMIM:616263 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Hepatic steatosis, Osteoporosis, Depression, Increased circulating cortisol level, Hyperaldostero... |
ORPHA:189427 |
| Emanuel Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Truncus arteriosus, Unilateral ren... |
OMIM:609029 |
| Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Cholecy... |
ORPHA:449395 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... |
ORPHA:730 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Polydipsia |
OMIM:613677 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Gastritis, H... |
ORPHA:31826 |
| Duane-Radial Ray Syndrome |
|
Renal malrotation, Anal stenosis, Ventricular septal defect, Aganglionic megacolon, Renal agenesi... |
OMIM:607323 |
| Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Cryptorchidism, Micropenis, Pineal ... |
OMIM:617516 |
| Cardiac Valvular Dysplasia 1 |
|
Hydroureter, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Tricuspid re... |
OMIM:212093 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Failure to thrive, Cyanosis, Tubulointerstitial fibrosis |
OMIM:263000 |
| Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hepatic steatosis, Multicystic kidney dysplasia, Diabetes mellitus, Hypospadias, Renal insufficie... |
ORPHA:93111 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachycardia, Ventricular septal defec... |
OMIM:614921 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cyst, High palate, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomegaly, Tri... |
OMIM:614866 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Bundle branch block, High, narrow palate, Hepatoblasto... |
ORPHA:373 |
| Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Abnormal heart morphology, Vesicoureteral... |
ORPHA:494344 |
| Hand-Foot-Genital Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Abnormality of the ur... |
ORPHA:2438 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Anter... |
OMIM:604292 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Villous atrophy, Ventricular septal defect, Bicuspid aortic v... |
ORPHA:84064 |
| Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:95626 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Polydipsia |
ORPHA:251274 |
| Fraser Syndrome 2 |
|
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas... |
OMIM:617666 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Tracheoesophageal... |
ORPHA:1834 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Hyperprolinemia, Cardiomyopathy, Focal T2 hyperintense thalamic lesion,... |
OMIM:619046 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of the upp... |
ORPHA:873 |
| Bladder Exstrophy |
|
Hypoplasia of penis, Recurrent urinary tract infections, Intestinal malrotation, Epispadias, Abno... |
ORPHA:93930 |
| Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Jejunal atresia, Tricuspid stenosis, Abnormality of the kid... |
ORPHA:391641 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Bladder trabeculation,... |
OMIM:614080 |
| Baller-Gerold Syndrome |
|
Malabsorption, Abnormality of the ureter, Cleft palate, Abnormal localization of kidney, Anterior... |
ORPHA:1225 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Hypoplasia of penis, Renal insufficiency, Protruding tongue, Cryptorchidism... |
ORPHA:96147 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Secundum atrial septal defect, Glome... |
ORPHA:2260 |
| Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
| Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Proteinuria, Ectopic kidney, Malrotation of colon, High, ... |
OMIM:122470 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, High p... |
OMIM:617913 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Cryptorchidism, Heart murmur, Anteriorly placed anus, High palate, Vesicour... |
OMIM:618653 |
| Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria,... |
OMIM:243910 |
| Currarino Syndrome |
|
Vesicoureteral reflux, Hypoplasia of penis, Hypospadias, Abnormal intestine morphology |
ORPHA:1552 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Hydronephrosis, Anal atresia |
OMIM:235760 |
| Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Hydronephrosis |
OMIM:617127 |
| Renal Agenesis |
|
Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Renal age... |
ORPHA:411709 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Cryptorchidism, Renal hypoplasia, Cleft palate, High palate, Mi... |
ORPHA:1307 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Ureteral stenosis, Renal insufficiency... |
ORPHA:900 |
| Emanuel Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Unilateral renal agenesis, Cryptorchidism, Renal h... |
ORPHA:96170 |
| Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Optic disc pallor, Facial palsy, Cachexia, Aggressive behavior, Hyperten... |
ORPHA:97229 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Protein-losing... |
OMIM:602579 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... |
ORPHA:839 |
| Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension... |
ORPHA:3156 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Cleft palate, High... |
OMIM:610759 |
| Vacterl Association With Hydrocephalus |
|
Renal hypoplasia, Anal atresia, Abnormal heart morphology |
OMIM:276950 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Proteinuria, Epistaxis, Hypoglycemia, Hyperlipidemia, Thyroiditis, Stage 5 ... |
ORPHA:79259 |
| Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Renal s... |
ORPHA:320 |
| Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Hypergonadotropic hypogonadism, Ventricular septal defect, Renal ag... |
OMIM:227645 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Patent foramen ovale, Renal hypoplasia, Self-injurious behavior... |
OMIM:618914 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost... |
OMIM:610489 |
| Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Secundum atrial septal defect, Horseshoe kidney, Cleft palate, Esophag... |
OMIM:612562 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Pyloric stenosis, Renal hypoplasi... |
ORPHA:3138 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anal stenosis, Hydroureter, Tremor, Hypertrophy of the urinary bladder, Unilateral renal dysplasi... |
ORPHA:280633 |
| Fanconi Anemia |
|
Reduced bone mineral density, Abnormality of the liver, High palate, Atrial septal defect, Abnorm... |
ORPHA:84 |
| Primary Unilateral Adrenal Hyperplasia |
|
Hypertension, Polydipsia, Palpitations, Epistaxis |
ORPHA:231580 |
| Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Abnormality o... |
OMIM:180860 |
| Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Papillary thyroid carcinoma, Vesicoureteral reflux, Atrial ... |
OMIM:118450 |
| Castleman Disease |
|
Myelofibrosis, Renal insufficiency, Intestinal obstruction, Jaundice, Hematuria, Restrictive card... |
ORPHA:160 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Abnormality of the ureter, Osteoporosis, Hypogonadism |
ORPHA:3409 |
| Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia |
ORPHA:2111 |
| Cockayne Syndrome Type 3 |
|
Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Pr... |
ORPHA:90324 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Increased density of long bones, Hepatoblastoma, Thi... |
OMIM:269150 |
| Riboflavin Deficiency |
|
Dicarboxylic aciduria, Hypothermia |
OMIM:615026 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the youn... |
ORPHA:324575 |
| Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Intestinal obstruction, Biliary tract neo... |
ORPHA:2869 |
| Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Cryptorchidism, Rectovaginal fistula, Polycystic kidney dyspl... |
OMIM:236700 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Pel... |
OMIM:613001 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Macroorchidism, Hypothermia, Delayed proximal femora... |
ORPHA:90674 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
| Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Hypertension, Renal hypoplasia, Absence of renal corticomedullary ... |
OMIM:619758 |
| Aredyld Syndrome |
|
Craniofacial hyperostosis, Hepatomegaly, Splenomegaly, Abnormality of the ureter, Type II diabete... |
ORPHA:1133 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypothermia, Elevated urinary dopamine level, Hyperinsulin... |
ORPHA:230 |
| Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Craniosynostosis, Cor pulmonale, Cleft palate, Mitral valve prolapse, Increased dens... |
OMIM:305620 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Cenani-Lenz Syndrome |
|
High, narrow palate, Crossed fused renal ectopia, Hypothyroidism, Renal hypoplasia/aplasia |
ORPHA:3258 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, High, narrow palate, Re... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, High, narrow palate, Re... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, High, narrow palate, Re... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, High, narrow palate, Re... |
ORPHA:881 |
| Penoscrotal Transposition |
|
Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... |
ORPHA:2842 |
| Neuroleptic Malignant Syndrome |
|
Fever, Tachycardia, Proteinuria, Urinary incontinence, Oculogyric crisis, Pulmonary embolism, Tre... |
ORPHA:94093 |
| Cerebrofacioarticular Syndrome |
|
Osteopenia, Anal stenosis, Hypospadias, Renal hypoplasia, Absence of pubertal development, Abnorm... |
ORPHA:314679 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptor... |
ORPHA:2059 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Abnormality of the kidney, Precocious puberty, Abnormal heart morphology, Vesicoureteral reflux, ... |
ORPHA:261652 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Intestinal malrotation, Epispadias, Ve... |
OMIM:258040 |
| Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Vesicoureteral reflux, Ventricular septal defect |
ORPHA:3078 |
| Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Tremor, Depression, Attention deficit hyp... |
ORPHA:3375 |
| Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Pelvic kidney, Horseshoe kidney |
OMIM:613951 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Pulmonic stenosis, Facial telangiectasia, Attent... |
OMIM:620141 |
| Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Aggressive behavior, Tongue thrusting, High... |
OMIM:606232 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Hypogonadotropic hypogonadism, Decrea... |
OMIM:129900 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Transient ischemic attack, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
| Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Renal cyst, Cleft palate, Transposition of the great arte... |
OMIM:231060 |
| Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, High, narrow palate, Cryptorchidism, Pyloric stenosis, Renal hypoplasi... |
OMIM:248700 |
| White-Kernohan Syndrome |
|
Hydroureter, Horseshoe kidney, Anteriorly placed anus, Rectovaginal fistula, Hypothyroidism, Hydr... |
OMIM:619426 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Crossed fused renal ectopia, Multicystic kidney dysplasia, Renal agenesis, Intestin... |
ORPHA:2538 |
| Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... |
ORPHA:3097 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Vent... |
OMIM:270100 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Double outlet... |
OMIM:179613 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Failure to thrive, Decreased thalamic volume, Dysphagia |
OMIM:613668 |
| Exstrophy-Epispadias Complex |
|
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... |
ORPHA:322 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Neonatal insulin-d... |
ORPHA:2255 |
| Caroli Syndrome |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Abnormality of... |
ORPHA:480520 |
| Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Athetosis... |
ORPHA:369929 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... |
ORPHA:139507 |
| Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Renal agenesis, Complete atrioventri... |
OMIM:264480 |
| Visceral Myopathy 1 |
|
Aganglionic megacolon, Intestinal pseudo-obstruction, Pancreatitis, Microcolon, Megacystis, Urina... |
OMIM:155310 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia, Hypothermia, Dystonia |
OMIM:614654 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, High palate, Abnormality of the ureter |
ORPHA:1035 |
| Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Abnormal cardiac septum morphology, Hydronephrosis |
ORPHA:2484 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cardiomegaly, Hepatoblastoma, Vesicoureteral reflux, Nephropathy, Hypothyro... |
ORPHA:116 |
| Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Malabsorption, Abnormality of ... |
ORPHA:2315 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabeti... |
OMIM:615238 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Ureteral stenosis, Dextrocardia, Cleft palate |
ORPHA:2257 |
| Meckel Syndrome 14 |
|
Tricuspid regurgitation, Decreased calvarial ossification, Mitral regurgitation, Hepatic fibrosis... |
OMIM:619879 |
| 3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Patent ductus arteriosus, Knee flexion contracture, Pulmonic stenosis, A... |
ORPHA:435638 |
| Chromosome 5P13 Duplication Syndrome |
|
Vesicoureteral reflux, High palate |
OMIM:613174 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cryptorchidism, Hydronephrosis |
OMIM:619797 |
| Fanconi Anemia, Complementation Group R |
|
Pelvic kidney, Anal atresia |
OMIM:617244 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect,... |
OMIM:600001 |
| Pfeiffer Syndrome Type 3 |
|
Intestinal malrotation, Cleft palate, Horseshoe kidney, High palate, Vesicoureteral reflux, Hydro... |
ORPHA:93260 |
| Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Hypospadias, Intestinal ma... |
OMIM:601346 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Cholestasis, Hemato... |
OMIM:615895 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Anal atresia, Bicuspid aortic valve, Horseshoe kidney |
OMIM:619318 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Hepatomegaly, Acute pancreatitis, Ketonuria, Cardiac arrest, Anorexia, Hypothermia, Jaundi... |
ORPHA:20 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia, 2-ethylhydracylic aciduria |
OMIM:610006 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tricuspid regurgitation, Renal hypoplasia, Renal cyst, Vesicoureteral reflu... |
OMIM:618460 |
| Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Extrahepat... |
ORPHA:100078 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Aganglionic megacolon, Patent ductus arteriosus, Flexion contracture, Interphalangea... |
OMIM:613870 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia, Goiter, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyro... |
ORPHA:90673 |
| Attrv30M Amyloidosis |
|
Atrioventricular block, Weight loss, Cardiomyopathy, Abnormal autonomic nervous system physiology... |
ORPHA:85447 |
| Isolated Epispadias |
|
Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux, Urinary incontinence |
ORPHA:93928 |
| Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Maternal diabetes, Large for gestational age, Abnormal oral glucose tolerance, Hyper... |
ORPHA:276580 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Hypothermia, Cardiomegaly, Patent foramen ovale... |
OMIM:601005 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... |
ORPHA:99886 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Torticollis, Hypergonadotropic hypogonadism, Focal T2 ... |
OMIM:613724 |
| Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Intermittent hypothermia, Reduced circulating prola... |
OMIM:223360 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorc... |
ORPHA:464311 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia, Lacticaciduria, Methylmalonic aciduria |
OMIM:245400 |
| Pancreatic Cancer |
|
Increased level of L-fucose in urine |
OMIM:260350 |
| Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Supernumerary nipple, ... |
OMIM:605039 |
| 6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
| Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
| Diamond-Blackfan Anemia 10 |
|
Renal duplication, Ventricular septal defect, Cleft palate, Ectopic kidney |
OMIM:613309 |
| Williams-Beuren Region Duplication Syndrome |
|
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Cryptorchidism,... |
OMIM:609757 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Pyloric stenosis, Horseshoe kidney |
OMIM:218350 |
| Phakomatosis Pigmentokeratotica |
|
Nephroblastoma, Precocious puberty, Raynaud phenomenon, Cryptorchidism, Renal transitional cell c... |
ORPHA:2874 |
| Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal... |
OMIM:610733 |
| Smith-Lemli-Opitz Syndrome |
|
Renal cyst, Hypocholesterolemia, Atrial septal defect, Micropenis, Hepatic steatosis, Bifid uvula... |
OMIM:270400 |
| Trisomy 13 |
|
Ventricular septal defect, High, narrow palate, Cryptorchidism, Abnormality of the ureter, Cleft ... |
ORPHA:3378 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Abnormality of the kidney, Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney |
ORPHA:3109 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... |
ORPHA:99885 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... |
ORPHA:444013 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage, Renal c... |
OMIM:611773 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Hydroureter, Abnormality of the kidney, Abnormality of... |
ORPHA:2636 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
| Tetraploidy |
|
Hydronephrosis, Aplasia/Hypoplasia of the thymus, Cleft palate, Renal hypoplasia/aplasia |
ORPHA:3305 |
| Vater/Vacterl Association |
|
Renal dysplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Ectopic kidney, Esophage... |
OMIM:192350 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Horseshoe kidney |
OMIM:617352 |
| Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Abnormal heart morphology, Tong... |
OMIM:311200 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal bladder morphology, Cryptorchidism, Ve... |
ORPHA:453499 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Anterior pituitary hypoplasia, Hypospadias, Unil... |
ORPHA:464306 |
| Raine Syndrome |
|
Increased bone mineral density, Hydroureter, Protruding tongue, Cleft palate, Subperiosteal bone ... |
OMIM:259775 |
| Tbck-Related Intellectual Disability Syndrome |
|
Neurogenic bladder, Hyperthyroidism, Ventricular septal defect, Decreased response to growth horm... |
ORPHA:488632 |
| Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Ventricular septal defect, High, narrow palate, Horseshoe kidney, Cleft palate... |
OMIM:272950 |
| Alexander Disease Type I |
|
Failure to thrive, Abnormal thalamic MRI signal intensity, Cachexia, Dysphagia |
ORPHA:363717 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Renal cyst, Cl... |
OMIM:618454 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Urethral stenosis, Cleft palate, Hydronephrosis, Hypoplastic left hear... |
ORPHA:1727 |
| Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... |
OMIM:618612 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circul... |
ORPHA:276575 |
| Spontaneous Periodic Hypothermia |
|
Tremor, Arrhythmia, Hypothermia |
ORPHA:29822 |
| 46,Xy Sex Reversal 4 |
|
Renal dysplasia, Hypergonadotropic hypogonadism, Cleft palate, High palate, Ureteropelvic junctio... |
OMIM:154230 |
| Bardet-Biedl Syndrome 21 |
|
Horseshoe kidney |
OMIM:617406 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Alexander Disease |
|
Osteopenia, Diabetes mellitus, Sudden cardiac death, Hypothermia, Precocious puberty, Tremor, Dep... |
ORPHA:58 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia, Anal atresia |
OMIM:617466 |
| Distal Deletion 10Q |
|
Functional abnormality of the bladder, Vesicoureteral reflux, Horseshoe kidney, Cleft palate, Enu... |
ORPHA:96148 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Hypogonadism, Micropenis, Polyphagia |
OMIM:614962 |
| Congenital Myopathy 17 |
|
Renal hypoplasia, Cleft palate, High palate, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:618975 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Craniosynostosis, Abnormality of the endocrine system, Cryptorchidism,... |
ORPHA:166035 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Hypothyroidism, P... |
ORPHA:438213 |
| 22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Vesicoureteral reflux, Atrial septal defect, Hypothyroidism, Hypoparath... |
ORPHA:567 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Vici Syndrome |
|
Renal tubular acidosis, Cardiomyopathy, High palate, Ureteral atresia |
ORPHA:1493 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Decreased calvarial ossification, Hyperechogenic kidneys, Intestinal malrotation, Polycystic kidn... |
OMIM:617866 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Elevated circulating crea... |
ORPHA:370959 |
| Chops Syndrome |
|
Ventricular septal defect, High, narrow palate, Cryptorchidism, Splenomegaly, Anomalous pulmonary... |
OMIM:616368 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Vesicoureteral reflux, Protruding tongue |
OMIM:618797 |
| Alagille Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Renal hypoplasia/aplasia, Cr... |
ORPHA:52 |
| Acces Syndrome |
|
Tracheoesophageal fistula, Supernumerary nipple, Horseshoe kidney |
OMIM:619959 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Aganglionic megacolon, Vesicoureteral reflux, Cleft palate, Atrial septal defect, ... |
OMIM:614749 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Left-to-right shunt, Hypospadias, Abnormality of the kidney, ... |
ORPHA:363444 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Vesicoureteral reflux, Recurrent urinary tract infections |
ORPHA:502 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... |
OMIM:606528 |
| Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Cryptorchid... |
OMIM:610443 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect |
OMIM:615503 |
| Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Rectal prolapse, Nephrocalcinosis, Early onset of sexual matur... |
OMIM:194050 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hydroureter, Supernumerary nipple, Unilateral renal agenesis, Cryptorchidism, Submucous cleft har... |
OMIM:619194 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ... |
ORPHA:330001 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Small for gestational age, Focal T2 hyperintense thalamic lesion, Optic atrophy |
OMIM:619057 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Recurrent urinary tract infections, Upper limb postural tremor, Action t... |
ORPHA:99027 |
| Fanconi Anemia, Complementation Group U |
|
Ectopic kidney |
OMIM:617247 |
| 15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, High pa... |
DECIPHER:81 |
| Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
| Opitz Gbbb Syndrome |
|
Ventricular septal defect, Hypospadias, Rectourethral fistula, Cryptorchidism, Cleft palate, Cong... |
OMIM:300000 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Proximal muscle weakness in upper limbs, Hypertrigl... |
ORPHA:435660 |
| Erdheim-Chester Disease |
|
Fever, Renal insufficiency, Increased bone mineral density, Hypogonadotropic hypogonadism, Abnorm... |
ORPHA:35687 |
| Ssr4-Cdg |
|
Horseshoe kidney |
ORPHA:370927 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypothermia, Progressive neurologic deterioration, 3-Methylglutaconic aciduria, Bile duct prolife... |
OMIM:618329 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Increased intraabdominal fat, Muscle hypertrophy of the ... |
ORPHA:280365 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... |
ORPHA:411536 |
| Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Abnormal heart valve morphology, Hypospadias, Ureteral obstructio... |
ORPHA:90652 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology, Compulsive behaviors |
ORPHA:397725 |
| Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
| Acrorenal-Mandibular Syndrome |
|
Absent nipple, Renal agenesis, Abnormality of the ureter, Narrow palate, Aplasia of the bladder, ... |
OMIM:200980 |
| Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... |
OMIM:140000 |
| Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Anal stenosis, Ventricular septal defect, Hypospadias, Heart block, Complete ... |
OMIM:617063 |
| Orofaciodigital Syndrome Type 5 |
|
Aganglionic megacolon, Cleft soft palate, High, narrow palate, Bifid tongue, Crossed fused renal ... |
ORPHA:2919 |
| Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Trem... |
ORPHA:904 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatic steatosis, Hepatomegaly, Short attention span, Hypospadias, Abnormal renal collecting sys... |
ORPHA:17 |
| Coach Syndrome 1 |
|
Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Splenomegaly, Multiple small medull... |
OMIM:216360 |
| Mosaic Trisomy 8 |
|
Decreased testicular size, Cryptorchidism, Cleft palate, High palate, Vesicoureteral reflux, Hydr... |
ORPHA:96061 |
| Rauch-Steindl Syndrome |
|
Hepatomegaly, Hyperechogenic kidneys, Bilateral renal hypoplasia, Exocrine pancreatic insufficiency |
OMIM:619695 |
| Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Bradykinesia, Addictive alcoho... |
ORPHA:399 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Hypos... |
ORPHA:508498 |
| Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
Cryptorchidism, High palate, Horseshoe kidney |
ORPHA:502434 |
| Acro-Renal-Ocular Syndrome |
|
Renal malrotation, Aganglionic megacolon, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder div... |
ORPHA:959 |
| Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Ureth... |
ORPHA:857 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... |
OMIM:300855 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Hypospadias, Elevated circulating luteinizing hormone level, Enla... |
ORPHA:90796 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Cleft palate, Pol... |
ORPHA:1770 |
| Chromosome 10Q26 Deletion Syndrome |
|
Cryptorchidism, Vesicoureteral reflux, High palate, Atrial septal defect, Micropenis |
OMIM:609625 |
| Epidermal Nevus Syndrome |
|
Osteopenia, Polycystic kidney dysplasia |
ORPHA:35125 |
| Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Velopha... |
OMIM:613680 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Hypothermia, Pulmonary embolism, Hemolytic-uremic... |
ORPHA:79282 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Malabsorption, Chronic kidney disease, Chol... |
ORPHA:85445 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Ventricular septal defect, Hypothermia, Increas... |
ORPHA:26793 |
| 1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Abnormal cardiac septum morphology, High palate, Vesicoureteral reflux, Ankyloglo... |
ORPHA:250989 |
| Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Malabsorption... |
ORPHA:912 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Arthrogryposis multiplex congenita, Decreased thalamic volume |
OMIM:619072 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
| 3C Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morphology, Adrenal hypopla... |
ORPHA:7 |
| Joubert Syndrome 37 |
|
Decreased testicular size, Hepatomegaly, Cryptorchidism, High palate, Micropenis, Hydronephrosis |
OMIM:619185 |
| Lumbar Syndrome |
|
Hypospadias, Renal agenesis, Cryptorchidism, Ectopic anus, Vesicoureteral reflux, Micropenis, Bla... |
ORPHA:83628 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft palate, Polycystic kidney dysplasia, Anal atre... |
OMIM:613091 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Intestinal malrotation, Adrenal hypo... |
OMIM:249000 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Ventricular septal defect, Hypospadias, Cardiomegaly, Cleft palate, Micropenis, Hyper... |
OMIM:616897 |
| Bardet-Biedl Syndrome |
|
Multicystic kidney dysplasia, Hypoplasia of penis, Cryptorchidism, Nephrotic syndrome, Hypertensi... |
ORPHA:110 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Decreased circulating parathyroid hormone level, Delayed epiphyseal ossi... |
OMIM:241530 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hepatomegaly, Multiple glomerular cysts, Dystonia, Cardiac conduction abnormality, Hypothe... |
ORPHA:255210 |
| Occipital Horn Syndrome |
|
Orthostatic hypotension, Ureteral obstruction, Hiatus hernia, Osteoporosis, Bladder diverticulum,... |
OMIM:304150 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Renal hypoplasia/aplasia, Precocious puberty, Abnormal repetitive mannerism... |
ORPHA:819 |
| Alveolar Echinococcosis |
|
Fever, Liver abscess, Abnormal pericardium morphology, Portal hypertension, Cholangitis, Pancreat... |
ORPHA:284 |
| Poland Syndrome |
|
Duplicated collecting system, Diabetes mellitus, Hypospadias, Dextrocardia, Renal hypoplasia/apla... |
ORPHA:2911 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Congenital fibrosis... |
ORPHA:300570 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Polydipsia, Renal hamartoma, Testicular neoplasm,... |
ORPHA:99880 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology |
OMIM:602114 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H... |
OMIM:602782 |
| Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... |
OMIM:608022 |
| Opitz Gbbb Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Hypospadias, Cryptorchidism, Vesicoureteral reflux, ... |
ORPHA:2745 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| Distal Duplication 17Q |
|
Accessory spleen, Cryptorchidism, Cleft palate, Abnormal heart morphology, High palate, Vesicoure... |
ORPHA:3379 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification, Motor tics |
OMIM:615483 |
| Alg9-Cdg |
|
Villous atrophy, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology... |
ORPHA:79328 |
| 15Q Overgrowth Syndrome |
|
Tricuspid regurgitation, Ureterovesical stenosis, Craniosynostosis, High, narrow palate, Abnormal... |
ORPHA:314585 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Polydip... |
ORPHA:525731 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification, Dysphagia |
OMIM:618317 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis |
OMIM:607598 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Cryptorchidism, Hydronephrosis |
OMIM:618060 |
| Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
| Porphyria Variegata |
|
Hyponatremia, Proximal muscle weakness in upper limbs, Neurogenic bladder, Tachycardia, Scarring,... |
ORPHA:79473 |
| Congenital Enterovirus Infection |
|
Fever, Hypothermia, Pericardial effusion, Myocarditis, Hepatitis, Cholestasis, Cardiomyopathy, Ir... |
ORPHA:292 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Polydipsia, Renal hamartoma, Testicular neoplasm,... |
ORPHA:143 |
| Au-Kline Syndrome |
|
Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Cle... |
OMIM:616580 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Tachycardia, Focal T2 hyperintense thalamic lesion, Dysphagia, Abnormal repeti... |
ORPHA:79264 |
| Spinocerebellar Ataxia With Epilepsy |
|
Hyperalaninemia, Focal T2 hyperintense thalamic lesion, Optic atrophy, Myopathy |
ORPHA:254881 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Hypothermia, Reduced left ventricular ejection fra... |
OMIM:616501 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus, Disinhibition |
OMIM:618193 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ... |
ORPHA:66624 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Horseshoe kidney, Dysphagia, Choreoathetosis, Dystonia |
OMIM:617664 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Hypothermia, Splenomegaly, Micronodular cirrhosis, Jaundice, D... |
OMIM:251880 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Tracheoesophageal fistula, Ectopic kidney |
ORPHA:268249 |
| Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Ectopic kidney, Cryptorchidism, Osteoporosis, Cleft palate, High palate, Abnormality... |
ORPHA:3063 |
| East Syndrome |
|
Salt craving, Ataxia, Inability to walk, Difficulty walking, Polydipsia |
ORPHA:199343 |
| Suleiman-El-Hattab Syndrome |
|
Ventricular septal defect, Cryptorchidism, High palate, Atrial septal defect, Patent foramen oval... |
OMIM:618950 |
| Tetrasomy 15Q26 |
|
Atrial septal defect, High palate, Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification, Hypomimic face |
OMIM:618824 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Meckel diverticulum, Renal malrotation, Ventricular septal defect, Pancreat... |
OMIM:274000 |
| Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
| Joubert Syndrome 39 |
|
Hypoplastic left heart, Polycystic kidney dysplasia |
OMIM:619562 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Torticollis, Intermittent hypothermia, Oculogyric crisis, Tongue th... |
OMIM:608643 |
| Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Hypertriglyceridemia, Reduced intraabdominal ... |
ORPHA:363400 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Hypoalbuminemia, Abnormal EKG, Abnormality of the ... |
ORPHA:85443 |
| Primary Erythromelalgia |
|
Vasculitis, Hypothermia |
ORPHA:90026 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Renal dysplasia, Renal duplication, Urinary bladder inflammation, Congenital ... |
ORPHA:79403 |
| Orthostatic Intolerance |
|
Orthostatic tachycardia, Elevated urinary norepinephrine level |
OMIM:604715 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Abnormality of the ureter, Multiple g... |
OMIM:175200 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Renal cyst, Furrowed tongue, High palate,... |
OMIM:616975 |
| Juberg-Hayward Syndrome |
|
Anteriorly placed anus, Hypospadias, Horseshoe kidney |
ORPHA:2319 |
| Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Adrenal insufficiency, Ureterocele |
OMIM:614863 |
| 9Q21.13 Microdeletion Syndrome |
|
Cryptorchidism, Abnormal tongue morphology, Hydronephrosis, Abnormal heart morphology |
ORPHA:531151 |
| Cerebrocostomandibular Syndrome |
|
Anal stenosis, Ventricular septal defect, Calcaneal epiphyseal stippling, Cleft soft palate, Ecto... |
OMIM:117650 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, Anorexia, Myocarditis, ... |
ORPHA:3452 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Transposition of t... |
OMIM:314390 |
| Miller-Dieker Lissencephaly Syndrome |
|
Cryptorchidism, Cleft palate, Abnormal heart morphology, Pelvic kidney, Duodenal atresia |
OMIM:247200 |
| Marburg Hemorrhagic Fever |
|
Shock, Fever, Pericarditis, Tachycardia, Renal insufficiency, Confusion, Anorexia, Aggressive beh... |
ORPHA:99826 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst |
OMIM:263630 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Hypospadias, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Osteo... |
OMIM:102500 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... |
OMIM:308750 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota... |
OMIM:267010 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Hepatic steatosis, Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglu... |
ORPHA:445038 |
| Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased c... |
ORPHA:276556 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
High palate, Hydronephrosis, Cleft palate |
OMIM:602418 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
| Floating-Harbor Syndrome |
|
Renal cyst, Nephrocalcinosis, Epididymal cyst, Compulsive behaviors, Atrial septal defect, Mesoca... |
ORPHA:2044 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... |
OMIM:300048 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Diabetes mellitus, Proteinuria, Abnormal cardiac ventricular function, Atrial fib... |
ORPHA:439232 |
| Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ... |
ORPHA:3299 |
| Tubulinopathy-Associated Dysgyria |
|
Abnormal thalamus morphology, Attention deficit hyperactivity disorder |
ORPHA:467166 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Portal hypertension, Craniosynostosis, Patent foramen ovale, Cryptorchidism, Re... |
OMIM:620005 |
| Aceruloplasminemia |
|
Torticollis, Decreased circulating ceruloplasmin concentration, Diabetes mellitus, Decreased circ... |
ORPHA:48818 |
| Cystinosis |
|
Polydipsia, Gait disturbance, Abnormal repetitive mannerisms, Portal hypertension |
ORPHA:213 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Micropenis, Horseshoe kidney |
OMIM:300860 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Anal atresia, R... |
OMIM:270420 |
| Hennekam Syndrome |
|
Malabsorption, Pericardial effusion, Splenomegaly, Ectopic kidney, Pyloric stenosis, Horseshoe ki... |
ORPHA:2136 |
| Fabry Disease |
|
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... |
OMIM:301500 |
| Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Ectopic kidney, Cryptorchidism, Atrial septal defect, Arrhythmia, Tetr... |
ORPHA:1519 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
| Sarcoidosis |
|
Heart block, Ventricular tachycardia, Nephrocalcinosis, Tubulointerstitial nephritis, Hypothyroid... |
ORPHA:797 |
| Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Hypospadias, Renal cyst |
OMIM:605231 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Congenital pyloric atresia, Aplasia of the bladder, ... |
ORPHA:158684 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... |
ORPHA:435651 |
| Currarino Syndrome |
|
Neurogenic bladder, Anal stenosis, Recurrent urinary tract infections, Urinary incontinence, Peri... |
OMIM:176450 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Hepatic fibrosi... |
ORPHA:541423 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Nephroblastoma, Renal hypoplasia |
OMIM:612918 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Ataxia, Hypertension, Dysdiadochokinesis, Polydipsia |
OMIM:612780 |
| Autosomal Recessive Spastic Paraplegia Type 23 |
|
Horseshoe kidney |
ORPHA:101003 |
| Toluene Embryopathy |
|
Cryptorchidism, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer |
OMIM:135150 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Optic atrophy, Abnormal thalamic MRI signal i... |
ORPHA:254930 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Absent nipple, Mitral valve prolapse, High palate, Ureteral triplication, Hydronephrosis |
OMIM:104350 |
| Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... |
ORPHA:261318 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Hepatomegaly, Ventricular septal defect, Renal cyst, Abnormal... |
ORPHA:488618 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnormality of the testis size, Abno... |
ORPHA:400 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Cryptorchidism, Splenomegaly, ... |
OMIM:235255 |
| Van Maldergem Syndrome 2 |
|
Osteopenia, Hypospadias, Cryptorchidism, Renal hypoplasia, Anteriorly placed anus, High palate, H... |
OMIM:615546 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Cryptorchidism, Clef... |
OMIM:616894 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hypertension |
ORPHA:79084 |
| Say Syndrome |
|
Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia |
OMIM:181180 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Aminoac... |
OMIM:619991 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia, Hypothermia |
OMIM:614498 |
| Menkes Disease |
|
Intracranial hemorrhage, Osteoporosis, Hypothermia |
OMIM:309400 |
| Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
| Endove Syndrome, Limb-Brain Type |
|
Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis |
OMIM:619218 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2522 |
| Knobloch Syndrome |
|
Vesicoureteral reflux, Pyloric stenosis, Bifid ureter, Dextrocardia |
ORPHA:1571 |
| Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
| Axial Osteomalacia |
|
Increased bone mineral density, Polycystic liver disease, Osteomalacia, Renal cyst |
OMIM:109130 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Splenomegal... |
OMIM:269860 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Proteinuria, Microvesicular hepatic steatosis, Grade ... |
OMIM:619377 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Ectopic posterior pituitary, Hyperactivity, Ventricular septal defec... |
ORPHA:508488 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Ureteral duplication, Hepatomegaly, Cholangitis, Craniosynostosis, Pancreatic cysts, ... |
OMIM:266920 |
| Frontometaphyseal Dysplasia |
|
Craniosynostosis, Ureteral obstruction, Urethral stenosis, Cleft palate, Abnormal heart morpholog... |
ORPHA:1826 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
| Eec Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia, Xer... |
ORPHA:1896 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Ureteral duplication, Aggressive behavior, High, narrow palate, Hand tremor, Duplication of renal... |
ORPHA:457212 |
| Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... |
ORPHA:2041 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Unilateral renal agenesis, Craniosynostosis, Cryptorchidism, Self-injurious behavior... |
ORPHA:468631 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Progressive neurologic deterioration, Cryptorchidism, Muscular ventric... |
OMIM:210710 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Irritability, Sparse bone tr... |
OMIM:264700 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Situs ... |
OMIM:615415 |
| Meningioma |
|
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... |
ORPHA:2495 |
| Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
| Meckel Syndrome, Type 10 |
|
Hypospadias, Malformation of the hepatic ductal plate, Renal cyst, Cleft palate, Micropenis, Bifi... |
OMIM:614175 |
| Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Crossed fused renal ectopia, Anal stenosis, Ventricular septa... |
OMIM:147920 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cryptorchidism, Abnormality of the urinary system, Ureteral stenosis |
ORPHA:2719 |
| Van Maldergem Syndrome 1 |
|
Osteopenia, Hypospadias, Renal hypoplasia, Anteriorly placed anus, High palate, Anal atresia |
OMIM:601390 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatic steatosis, Pericarditis, Villous atrophy, Hypergonadotropic hypogonadism, Pro... |
OMIM:212065 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Abnormal cardiac ventricular function, Pyloric stenosis, Dila... |
ORPHA:90349 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Aganglionic megacolo... |
ORPHA:2473 |
| Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect,... |
ORPHA:99776 |
| Meckel Syndrome, Type 6 |
|
Absent gallbladder, Renal cyst, Horseshoe kidney, Cleft palate, Cystic liver disease, Aplasia of ... |
OMIM:612284 |
| Diaphanospondylodysostosis |
|
Multiple renal cysts, Cleft palate |
ORPHA:66637 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Osteomalacia, Delayed epiphyseal ossification, Chronic kidney disease, Ricke... |
OMIM:300554 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin... |
ORPHA:79085 |
| Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
| Chand Syndrome |
|
Hydroureter, Bifid tongue, Cleft palate |
ORPHA:1401 |
| Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Osteomalacia, Delayed epiphyseal ossification, Chronic ki... |
OMIM:300009 |
| Goldberg-Shprintzen Syndrome |
|
Vesicoureteral reflux, Aganglionic megacolon, Ventricular septal defect, Aortic regurgitation |
OMIM:609460 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Exaggerated startle response, Ventricular septal defect, Urinary incontinence... |
OMIM:619522 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Attention deficit hyperactivity disorder, Abnormal thalamus morphology, Compulsive behaviors |
ORPHA:404440 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Hypothermia, Malabsorption, Osteoporosis, Intracranial hemorrhage, B... |
ORPHA:565 |
| Degcags Syndrome |
|
Osteopenia, Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, High palate, Atrial septal def... |
OMIM:619488 |
| Diphallia |
|
Ureteral duplication, Duplicated colon, Rectoperineal fistula, Hypospadias, Renal malrotation, Di... |
ORPHA:227 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... |
ORPHA:293987 |
| Variant Abeta2M Amyloidosis |
|
Chronic kidney disease, Abnormal skeletal muscle morphology, Reduced left ventricular ejection fr... |
ORPHA:314652 |
| Coloboma, Ocular, Autosomal Dominant |
|
Vesicoureteral reflux |
OMIM:120200 |
| Hyperuricemia, Hprt-Related |
|
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
| Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Congestive heart failure, Renal h... |
OMIM:181270 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Jaundice, Renal cyst, Cholestasis, Abnormal intra... |
ORPHA:79303 |
| Japanese Encephalitis |
|
Hyponatremia, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Facial palsy, A... |
ORPHA:79139 |
| Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Hypog... |
OMIM:615994 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Depress... |
OMIM:615954 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Vesicoureteral reflux, High, narrow palate, Patent foramen ovale |
OMIM:618076 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Craniosynostosis, Cryptorchidism, Cleft palate... |
ORPHA:457193 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
| Femoral-Facial Syndrome |
|
Ventricular septal defect, Renal agenesis, Maternal diabetes, Abnormal renal collecting system mo... |
OMIM:134780 |
| Kury-Isidor Syndrome |
|
High palate, Ventricular septal defect, Hydronephrosis |
OMIM:619762 |
| 17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Decreased response to growth hormone stimulation test, Pineal cyst, Pulmon... |
ORPHA:529962 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps... |
ORPHA:352665 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreati... |
ORPHA:276608 |
| Gabriele-De Vries Syndrome |
|
Tremor, Cryptorchidism, High palate, Attention deficit hyperactivity disorder, Dystonia, Ureterop... |
OMIM:617557 |
| Coffin-Siris Syndrome 1 |
|
Hydroureter, Ventricular septal defect, Hypospadias, Intestinal malrotation, Ectopic kidney, Duod... |
OMIM:135900 |
| Duane Retraction Syndrome |
|
Cleft palate, Ectopic kidney |
ORPHA:233 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Decr... |
OMIM:608594 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Double outlet right ventricle, Micropenis... |
ORPHA:163956 |
| Stromme Syndrome |
|
Accessory spleen, Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Cleft pala... |
OMIM:243605 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... |
ORPHA:54595 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
| Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Ataxia, Ventricular tachycardia, Palpitations, Hypotension, ... |
OMIM:263800 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Abnormality of the kidney, Cerebral hemorrhage, Dif... |
ORPHA:464321 |
| Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria |
ORPHA:30 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Cleft ... |
ORPHA:1318 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... |
OMIM:308700 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Cleft palate, Polycystic kidney dysplasia, Atrial septal defect, Micropenis |
OMIM:616546 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... |
OMIM:168000 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
T2 hypointense thalamus, Optic disc pallor, Dysphagia |
ORPHA:1947 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Renal cortical cysts |
OMIM:618548 |
| Occipital Horn Syndrome |
|
Osteopenia, Recurrent urinary tract infections, Osteomalacia, Hypothermia, Hiatus hernia, High, n... |
ORPHA:198 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Hamartoma of tongue, Cryptorchidism, Renal hypoplasia, Renal cyst, Cleft palate, Lobulated tongue... |
OMIM:616300 |
| Kinsship Syndrome |
|
Osteopenia, Renal hypoplasia, Horseshoe kidney, Ankyloglossia, Bruxism, Abnormal repetitive manne... |
OMIM:619297 |
| Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Ectopic kidney, Bilateral cryptorchidism, Cleft palate, Micropenis, Patent foramen... |
OMIM:263650 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypospadias, Pa... |
ORPHA:444077 |
| Micro Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Abnormal localization of kidney, High palate, Delayed pubert... |
ORPHA:2510 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Short attention span, Unexplained fevers, Impulsivity, Hypothermia, C... |
ORPHA:642 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula... |
OMIM:605373 |
| Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Abnormal T-wave, Ureteropelvic ... |
ORPHA:444072 |
| Kaposiform Lymphangiomatosis |
|
Fever, Epidural hemorrhage, Epistaxis, Pericardial effusion, Pancreatic cysts, Splenomegaly, Oste... |
ORPHA:464329 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... |
ORPHA:35878 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Precocious puberty, High, narrow palate, Cryptorchidism, Abnormal heart morphology,... |
ORPHA:96092 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr... |
OMIM:616307 |
| Tarp Syndrome |
|
Meckel diverticulum, Subdural hemorrhage, Horseshoe kidney, Cleft palate, Tongue nodules, Glossop... |
OMIM:311900 |
| Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Ventricular septal defect, Aganglio... |
OMIM:229850 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, High palate, Micropenis, Ovarian ser... |
ORPHA:1772 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hamartoma of tongue, Pancreatic c... |
ORPHA:2750 |
| Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Atrial septal defect, Micropenis, At... |
ORPHA:672 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Elevated urinary homovanillic acid, Abnormal autonomic nervous system physiology, Hypomimic face |
OMIM:618049 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Hyperphosphaturia, Precocious puberty, Horseshoe kidney, Hypophosphatemic rickets |
OMIM:163200 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Hypertension, Renal cell carcinoma, Epididymal cyst, ... |
OMIM:193300 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
| Intellectual Disability, Buenos-Aires Type |
|
Abnormal cardiac septum morphology, High palate, Hydronephrosis, Reduced bone mineral density |
ORPHA:3079 |
| Melnick-Needles Syndrome |
|
Ureteral stenosis, Osteolytic defects of the phalanges of the hand, Mitral valve prolapse, Cleft ... |
OMIM:309350 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Cryptorchidism, Abnormal mesentery morphology, Functional abnorm... |
ORPHA:2953 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Elevated hemoglobin A1c... |
OMIM:269700 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Cleft palat... |
OMIM:607361 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Aggressive behavior, Self-injurious behavior, Pelvic kidney, Attention deficit hyperactivity diso... |
ORPHA:466950 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Cryptorchidism, Patent foramen ovale, Hydronephrosis |
OMIM:620327 |
| 14Q22Q23 Microdeletion Syndrome |
|
Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasia, Abnormality ... |
ORPHA:264200 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Decreased r... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Decreased r... |
ORPHA:363958 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Irritability, ... |
ORPHA:289157 |
| Meckel Syndrome, Type 4 |
|
Ventricular septal defect, Cleft palate, Renal cyst, Bile duct proliferation, Atrial septal defect |
OMIM:611134 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
| Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage, Abnormal thalamus morphology |
ORPHA:88619 |
| Mend Syndrome |
|
Cryptorchidism, Aortic valve stenosis, Crossed fused renal ectopia, High palate |
OMIM:300960 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia |
ORPHA:329249 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Agenesis of corpus callosum |
OMIM:617542 |
| Zaki Syndrome |
|
High palate, Renal agenesis, Patent foramen ovale, Hydronephrosis |
OMIM:619648 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentratio... |
ORPHA:263455 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasi... |
ORPHA:1655 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
High palate, Hydronephrosis, Cleft palate |
ORPHA:488613 |
| Joubert Syndrome 14 |
|
Ventricular septal defect, Cleft palate, Renal cyst, Intracranial hemorrhage, Hypertension, Irrit... |
OMIM:614424 |
| 3Q29 Microdeletion Syndrome |
|
Hypospadias, Aggressive behavior, Horseshoe kidney, Depression, High palate, Attention deficit hy... |
ORPHA:65286 |
| Faciocardiorenal Syndrome |
|
Cleft palate, Horseshoe kidney, Tricuspid valve prolapse, Endocardial fibroelastosis |
ORPHA:1973 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, High palate, Atrial septal defect, Hypothyroidism, Self-mu... |
OMIM:607872 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, High palate, Uri... |
OMIM:300661 |
| Cockayne Syndrome |
|
Hepatomegaly, Neurogenic bladder, Diabetes mellitus, Renal insufficiency, Urinary incontinence, U... |
ORPHA:191 |
| Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Lipodystrophy, Congestive... |
ORPHA:528 |
| Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis, Multicystic kidney dysplasia, Congenital hepatic fibrosis, Renal cyst |
ORPHA:2031 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Hypothermia, Pericardial effusion, Brady... |
OMIM:618775 |
| Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy... |
OMIM:617100 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Cryptorchidism, Micropenis, Hydronephrosis, Narrow palate |
ORPHA:364028 |
| Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Ventricular ... |
ORPHA:2729 |
| Meckel Syndrome, Type 5 |
|
Cleft palate, Bile duct proliferation, Renal cyst |
OMIM:611561 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614862 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Raynaud phenomenon, Hypothyroidism, Tubulointerstitial fibrosis |
OMIM:607944 |
| Acquired Generalized Lipodystrophy |
|
Calf muscle pseudohypertrophy, Hypertriglyceridemia, Proteinuria, Insulin-resistant diabetes mell... |
ORPHA:79086 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Self-injurious behavior, Pelvic kidney, Attention deficit hyperactivity diso... |
ORPHA:466943 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ventricular septal defect, Adrenal hy... |
OMIM:214100 |
| 2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Decreased testicular size, Multicystic kidney dysplasia, Supernumerary nipp... |
ORPHA:261349 |
| Orofaciodigital Syndrome V |
|
Ventricular septal defect, Aganglionic megacolon, Hamartoma of tongue, Unilateral cryptorchidism,... |
OMIM:174300 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Decreased testicular size, High, narrow palate, Cryptorchidism, High palate, Hypogonadism, Microp... |
OMIM:612513 |
| Atelosteogenesis Type I |
|
Malrotation of colon, Abnormal ossification involving the femoral head and neck, Cleft palate, Mu... |
ORPHA:1190 |
| Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Glandular hypospadias, Cleft palate, Glossoptosis, High palate,... |
ORPHA:1358 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Hepatomegaly, Bilateral fetal pyelectasis, Microvesicular hepatic s... |
OMIM:300868 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hypergonadotr... |
OMIM:203800 |
| Mesomelia-Synostoses Syndrome |
|
Aplasia/Hypoplasia of the uvula, High, narrow palate, Hydronephrosis |
ORPHA:2496 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Crossed fused renal ectopia, Recurrent urinary tract infections, Hypospadias, Epistaxis, Anterior... |
OMIM:619841 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Cleft palate, Furrowed tongue, High palate, Atrial septal... |
OMIM:616449 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Cleft pa... |
OMIM:611209 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
| Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Fasting hyperinsulinemia, Hyperglycemia, Renal neoplasm, Abnormal circul... |
ORPHA:79474 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Telangiectasia of the skin, Ventricular septal defect, Renal hypopl... |
ORPHA:2092 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Bilateral cleft lip and palate, High palate, Hypoplastic left heart... |
OMIM:618829 |
| Meckel Syndrome, Type 2 |
|
Cleft palate, Bile duct proliferation, Intestinal malrotation, Renal cyst |
OMIM:603194 |
| Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Optic atrophy, Obesity, Atypical scarring of skin, Hypogon... |
ORPHA:791 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Renal hypoplasia, Cleft... |
OMIM:614083 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Protruding tongue, Secundum atrial septal defect, Splenomegaly,... |
OMIM:608779 |
| Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr... |
OMIM:107480 |
| Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Cholangitis, Abnormality of the kidney, Abnormality of the thyroid gland, Re... |
ORPHA:449432 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydroureter, Aganglionic megacolon, Abnormality of the kidney, Abnormality of the upper urinary t... |
ORPHA:2273 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Mitchell Syndrome |
|
Limb muscle weakness, Abnormal autonomic nervous system physiology, Dysphagia |
OMIM:618960 |
| Gapo Syndrome |
|
Umbilical hernia, Optic atrophy, Facial palsy, Tubulointerstitial fibrosis |
OMIM:230740 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Neph... |
ORPHA:3463 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Abnormality of the kidney, Cleft palate, Horseshoe kidney, Abnormal cardiac septum morphology, Ax... |
ORPHA:3320 |
| Trisomy 8P |
|
Abnormal atrioventricular connection, Cryptorchidism, Fetal pyelectasis, Malrotation of small bow... |
ORPHA:264450 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... |
OMIM:614473 |
| Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Craniosynostosis, Oral-pharyngeal dysphagi... |
ORPHA:506358 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Hypospadias, Cryptorchidism, Abnormality of the ureter, Cleft palate, Anomalous pulmonary venous ... |
ORPHA:2311 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Bi... |
OMIM:615710 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Patent foramen ovale, Hydronephrosis, Protruding tongue |
OMIM:619179 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Renal dysplasia, Abnormality of thyroid physiology, Cleft palate, Hydronephrosis, Atrial septal d... |
OMIM:300968 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... |
ORPHA:353281 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Hyperlipidemia, Osteoporosis, Nephrolithiasi... |
OMIM:232200 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine... |
OMIM:171400 |
| Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
| Mpdu1-Cdg |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
ORPHA:79323 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Neonatal epiphyseal stippling, Anterior rib punctate calcification... |
ORPHA:35173 |
| Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, I... |
ORPHA:347 |
| Charge Syndrome |
|
Hypogonadotropic hypogonadism, Abnormal soft palate morphology, Cryptorchidism, Tracheoesophageal... |
ORPHA:138 |
| Tuberous Sclerosis 1 |
|
Wolff-Parkinson-White syndrome, Precocious puberty, Renal cyst, Cardiac rhabdomyoma, Renal cell c... |
OMIM:191100 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
| Rhombencephalosynapsis |
|
Fusion of the left and right thalami, Septo-optic dysplasia, Abnormal renal morphology, Aganglion... |
ORPHA:59315 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, High, nar... |
ORPHA:96182 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Limb dystonia, Neurogenic bladder, Dystonia, Aggressive behavior, Cleft palate, Congenital hypoth... |
OMIM:616973 |
| Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Vesico... |
OMIM:157800 |
| Roberts Syndrome |
|
Craniosynostosis, Cryptorchidism, Long penis, Cleft palate, High palate, Polycystic kidney dysplasia |
ORPHA:3103 |
| Schwartz-Jampel Syndrome |
|
Increased bone mineral density, Abnormally ossified vertebrae, Abnormality of the ureter, Nephrol... |
ORPHA:800 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Pyloric stenosis, Cleft palate, Abn... |
ORPHA:261197 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use, Difficulty walking |
ORPHA:399180 |
| Igg4-Related Aortitis |
|
Intestinal obstruction, Hydronephrosis |
ORPHA:449400 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Intrahepatic cholestasis, Jaundice, Hepatic fibrosis, Hepatic steat... |
OMIM:617093 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma... |
ORPHA:2075 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, High palate, Hydronephrosis |
ORPHA:1297 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Micropenis, Hydronephrosis, Du... |
OMIM:617798 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Cleft palate, Ant... |
OMIM:619980 |
| Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... |
OMIM:608978 |
| Fraser Syndrome 3 |
|
Ureteral agenesis, Hypoplasia of the bladder, Hypoplasia of penis, Bilateral renal agenesis |
OMIM:617667 |
| Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Recurrent urinary tract infections, Cor triatriatum, Secundum atrial septal defect,... |
OMIM:612541 |
| Hyperoxaluria, Primary, Type Iii |
|
Hyperoxaluria, Calcium oxalate nephrolithiasis |
OMIM:613616 |
| 3Mc Syndrome 3 |
|
Cryptorchidism, Cleft palate, Horseshoe kidney, Micropenis, Penoscrotal hypospadias |
OMIM:248340 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Intestinal malrotation, Renal hypoplasia, Hypoplasia of the ovary, Micropenis,... |
OMIM:619321 |
| Kabuki Syndrome 2 |
|
Horseshoe kidney, Cleft palate, High palate, Pulmonic stenosis, Atrial septal defect, Atrioventri... |
OMIM:300867 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
| Branchioskeletogenital Syndrome |
|
Ureteral stenosis, Absent nipple, Unilateral cleft palate, Submucous cleft hard palate, Anteriorl... |
ORPHA:1299 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia |
OMIM:125800 |
| Mosaic Trisomy 16 |
|
Hypospadias, Ventricular septal defect, Maternal diabetes, Horseshoe kidney, Abnormal heart morph... |
ORPHA:1708 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia |
OMIM:304800 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Osteoporosis, Nephrolithiasis, Increased circulating ACTH level, Hypertension,... |
OMIM:219090 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Abnormal cardiac septum morphology, Pulmo... |
OMIM:616737 |
| Genitopatellar Syndrome |
|
Atrial septal defect, Cryptorchidism, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
| Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:250410 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... |
OMIM:218700 |
| Galactokinase Deficiency |
|
Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Increa... |
ORPHA:79237 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, Supernumerary nipple, Telangiectasia, Anteriorly placed anus, Hydronephros... |
ORPHA:247262 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Fetal megacystis |
ORPHA:73246 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy,... |
ORPHA:70595 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for ge... |
ORPHA:79644 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Congestive heart failure, A... |
ORPHA:3077 |
| Tay-Sachs Disease |
|
Skeletal muscle atrophy, Hip flexor weakness, Increased serum beta-hexosaminidase, Quadriceps mus... |
ORPHA:845 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, High palate, Low frustration tolerance, Mi... |
OMIM:619503 |
| Neuroferritinopathy |
|
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity, Dysphagia, Decreased circulating... |
ORPHA:157846 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, High, narrow palate, Cleft palate, Furrowed tongue, Pulmo... |
ORPHA:464738 |
| Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Urinary incontinence, Cardio... |
OMIM:268800 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
| Tuberous Sclerosis 2 |
|
Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Precocious pub... |
OMIM:613254 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Pyloric stenosis, Cleft palate, Perimembranous... |
ORPHA:83617 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Renal agenesis, Cle... |
OMIM:220500 |
| Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Splenomegaly, Submucous cleft hard palate, Tongue thrusting, High palate, Pulmonic st... |
OMIM:115150 |
| 7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, ... |
ORPHA:96121 |
| Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi... |
OMIM:214800 |
| Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Congenital ... |
ORPHA:1454 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Hypospadias, Cryptorchidism, Horseshoe kidney, Congenital posterior urethral valve, H... |
OMIM:620083 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
| Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Xerostomia, Renal hypoplasia, Bifid uvula, Vesicoureteral reflux, Corneal neovasc... |
ORPHA:2363 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... |
OMIM:600785 |
| Multiple System Atrophy, Cerebellar Type |
|
Raynaud phenomenon, Neuromuscular dysphagia, Orthostatic syncope, Abnormal autonomic nervous syst... |
ORPHA:227510 |
| Sandhoff Disease, Infantile Form |
|
Mitral regurgitation, Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Maternal diabetes, Cryptorchidism, Renal hypoplasia, High palate, Poly... |
ORPHA:3404 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter, Hypogonadism, Bilateral cleft lip and palate |
ORPHA:3253 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... |
ORPHA:769 |
| Thakker-Donnai Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal fistula, Transposition of the ... |
ORPHA:1780 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Tricuspid regurgitation, Impulsivity, Interhypothalamic adhesion, Self-injurious behavior, Attent... |
OMIM:618929 |
| Robinow Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Bifid tongue, Abnormal h... |
ORPHA:97360 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ... |
OMIM:617478 |
| Neurocardiofaciodigital Syndrome |
|
Vesicoureteral reflux, Double inlet left ventricle, High palate, Atrial septal defect, Tetralogy ... |
OMIM:619869 |
| Rett Syndrome |
|
Increased serum pyruvate, Skeletal muscle atrophy, Hyperammonemia, Agitation, Abnormal autonomic ... |
ORPHA:778 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati... |
OMIM:613327 |
| Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Renal hypoplasia, Cleft ... |
OMIM:105650 |
| Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Nephroblastoma, Aganglionic megacolon, Abnormality of the ureter, Neph... |
ORPHA:798 |
| Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Ventricular septal defect, Precocious puberty, Tremor, Cleft palate, Choreoathetos... |
ORPHA:1934 |
| Renpenning Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Renal hypoplasia, Cleft... |
OMIM:309500 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
| Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased res... |
ORPHA:3455 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnormal thalamic MRI sign... |
ORPHA:485421 |
| Monosomy 22Q13.3 |
|
Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis |
ORPHA:48652 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Vesicoureteral reflux, Cryptorchidism, Micropenis |
OMIM:617330 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Mitral stenosis, Decreased response to growth hormone stimulation test, Renal cyst |
OMIM:617260 |
| Harrod Syndrome |
|
High palate, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism |
ORPHA:2115 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Renal ... |
ORPHA:199 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone trabeculae, Elevated circulat... |
OMIM:277440 |
| Stiff-Person Syndrome |
|
Fever, Tachycardia, Diabetes mellitus, Exaggerated startle response, Depression, Opisthotonus, Hy... |
OMIM:184850 |
| Pancreatic Agenesis 2 |
|
Diabetes mellitus, Exocrine pancreatic insufficiency, Steatorrhea, Pancreatic hypoplasia, Pancrea... |
OMIM:615935 |
| Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal... |
OMIM:219000 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Ventricular septa... |
OMIM:280000 |
| 3Mc Syndrome 2 |
|
Torticollis, Hypospadias, Craniosynostosis, Cryptorchidism, Horseshoe kidney, Cleft palate, High ... |
OMIM:265050 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Dystonia, Cleft soft palate, Impulsivity, Precocious puberty, High, narrow palate, Cleft palate, ... |
OMIM:619950 |
| Multiple System Atrophy |
|
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... |
ORPHA:102 |
| Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Ventricular septal defect, Hypospadias, Aganglionic me... |
ORPHA:821 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Macroglossia, Ne... |
OMIM:617107 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ... |
ORPHA:101016 |
| Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Multicystic kidney dysplasia, Hypoplasia of penis, Ventricula... |
ORPHA:818 |
| Tarp Syndrome |
|
Cryptorchidism, Horseshoe kidney, Cleft palate, Tongue nodules, Glossoptosis, Abnormal duodenum m... |
ORPHA:2886 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Weight loss, Hematuria, Syncope, Renal artery ... |
ORPHA:71273 |
| Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Hypospadias, Renal agenesis, Protruding tongue, Cryptorchidism, Macrog... |
OMIM:301040 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Abnormality of the diencephalon, Camptodactyly of finger, Renal hypo... |
ORPHA:2570 |
| Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Horseshoe kidney, High palate |
ORPHA:46059 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Epispadias, Abnormality of the ure... |
ORPHA:3339 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Aggressive behavior |
ORPHA:329284 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Cleft palate, Heart m... |
ORPHA:163979 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... |
ORPHA:353277 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Dicarboxylic aciduria, I... |
ORPHA:71212 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Adrenal hypoplasia, Hydronephrosis, Epiphyseal stippling, Abnormal car... |
OMIM:308050 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Abnormal pelvis bone ossification, E... |
ORPHA:93271 |
| Multiple System Atrophy, Parkinsonian Type |
|
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... |
ORPHA:98933 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... |
OMIM:145981 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Accessory spleen, Adrenal hypoplasia, Pyloric stenosis, Rectal prolapse, Hypoplasia o... |
OMIM:613177 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Anteriorly placed anus, Micropenis, Decreased circulating r... |
OMIM:201750 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology, Impulsivity |
ORPHA:101046 |
| Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, ... |
ORPHA:2308 |
| 3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ventricular septal defect, Supernumerary nipple, Cleft palate, Lambd... |
OMIM:257920 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Recurrent urinary tract infections, Rectal prolapse, Pseudohypoparathyroidism, Renal hypoplasia, ... |
OMIM:617157 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Hepatic ste... |
ORPHA:1606 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Precocious puberty, Type I diabetes mellitus, Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology, Attention deficit hyperactivity disorder |
OMIM:617935 |
| Alexander Disease Type Ii |
|
Limb muscle weakness, Urinary bladder sphincter dysfunction, Abnormal autonomic nervous system ph... |
ORPHA:363722 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal cyst, Cleft pala... |
OMIM:257300 |
| Holoprosencephaly 3 |
|
Bifid uvula, Central diabetes insipidus, Hydronephrosis, Cleft palate |
OMIM:142945 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Cleft hard palate, Vesicoureteral reflux, ... |
ORPHA:261537 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Ventricular septal defect, Renal agenesis, Ectopic kidney, Cleft pa... |
OMIM:164210 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Telangiectasia of the skin, Thin bony cortex |
ORPHA:75508 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
| Distal Deletion 15Q |
|
Decreased serum insulin-like growth factor 1, Multicystic kidney dysplasia, Bicuspid aortic valve... |
ORPHA:1596 |
| Microphthalmia, Syndromic 1 |
|
Hydroureter, Bicuspid aortic valve, Hypospadias, Aganglionic megacolon, Renal hypoplasia/aplasia,... |
OMIM:309800 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal de... |
OMIM:619534 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Overweight, Generalized limb muscle atrophy, Obesity, Distal amyotrophy,... |
ORPHA:2822 |
| Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Cleft palate, Atrial ... |
OMIM:300712 |
| Coffin-Siris Syndrome |
|
Ventricular septal defect, Hypospadias, Hepatoblastoma, Cryptorchidism, Horseshoe kidney, Abnorma... |
ORPHA:1465 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul... |
ORPHA:220460 |
| Pelvis-Shoulder Dysplasia |
|
Microglossia, Hydronephrosis, Cleft palate |
ORPHA:2839 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Lethargy, Addictive alcohol use, Hypotension |
ORPHA:36238 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Abnormal thalamic MRI signal intensity, Hypoalbuminemia, Hyp... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Abnormal thalamic MRI signal intensity, Hypoalbuminemia, Hyp... |
ORPHA:529799 |
| Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Sagittal craniosynostosis, Craniosynostosis, Cryptor... |
OMIM:101200 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Epiphyseal stippling, Stippled calcification in carpal bones, Hydronephrosis, Tarsal stippling |
OMIM:302960 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Aganglionic megacolon, Abnormality of th... |
ORPHA:847 |
| Mosaic Trisomy 20 |
|
Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, Dysplastic tricuspid valve,... |
ORPHA:1724 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Renal cyst, Hypercalci... |
ORPHA:18 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Dysphagia, Hypertension, Pollakisuria, Abnormal autonomic nervous system physiology, Hypotension,... |
ORPHA:93256 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Distal amyotrophy, Abnormal autonomic nervous system p... |
ORPHA:139578 |
| D-Bifunctional Protein Deficiency |
|
Osteopenia, Hepatomegaly, Splenomegaly, Primary adrenal insufficiency, Renal cyst, Cholestasis, H... |
OMIM:261515 |
| Al-Gazali Syndrome |
|
Osteopenia, Hydronephrosis |
OMIM:609465 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo... |
ORPHA:456312 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Dysuria, Cognitive impairment, Dysphagia, Emotional lability, Hydronephrosis |
ORPHA:101000 |
| Marchiafava-Bignami Disease |
|
Ataxia, Aggressive behavior, Gait ataxia, Gait disturbance, Addictive alcohol use |
ORPHA:221074 |
| Nephronophthisis 11 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hypospadias, Protruding tongue, Cryptorchidism, Renal hypoplasia, Macroglossia, Hypogonadism, Hig... |
OMIM:309580 |
| Acute Lung Injury |
|
Shock, Addictive alcohol use, Diffuse alveolar hemorrhage |
ORPHA:178320 |
| Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Decreased serum leptin, Flexion contracture, Right bundle branch block, Hypertension... |
OMIM:614008 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Ventricular septal defect, Craniosynostosis, Bilobate gallblad... |
OMIM:261540 |
| Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Cryptorchidism, Submucous cleft hard palate, High palate, Pulmon... |
ORPHA:1340 |
| Shwachman-Diamond Syndrome |
|
Osteopenia, Hepatomegaly, Short attention span, Diabetes mellitus, Decreased response to growth h... |
ORPHA:811 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Craniosynostosis, Horseshoe kidney, Mitral valve prolapse, Opisthotonus, Abnormal r... |
ORPHA:508533 |
| Persistent Idiopathic Facial Pain |
|
Abnormal autonomic nervous system physiology |
ORPHA:398147 |
| Donohue Syndrome |
|
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, S... |
OMIM:246200 |
| Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
| Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Renal cortical cysts, Renal cyst, Cleft palate, Micr... |
ORPHA:1692 |
| Dubowitz Syndrome |
|
Hypoparathyroidism, Anal stenosis, Hypospadias, Craniosynostosis, Malabsorption, Cryptorchidism, ... |
ORPHA:235 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Cleft hard palate, Vesicoureteral reflux, ... |
ORPHA:261552 |
| Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Intestinal fistula, Hypospadias, Renal hypopl... |
ORPHA:709 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... |
OMIM:260370 |
| African Trypanosomiasis |
|
Urinary incontinence, Tremor, Choreoathetosis, Delirium, Abnormal EKG, Hepatomegaly, Abnormality ... |
ORPHA:3385 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Distal renal tubular acidosis, Proximal renal tubular acidosis, Nephrolithiasis, Re... |
ORPHA:2785 |
| Digeorge Syndrome |
|
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus... |
OMIM:188400 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Vesicovaginal fistula, Hypertension, High palate, Atrial septal defect, Ureteropelvic junction ob... |
OMIM:300896 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... |
ORPHA:500095 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Neoplasm of the stomach, Myocardial infarction, Pituitary corticotropic cell... |
ORPHA:99889 |
| Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Polyuria, Unilateral renal a... |
OMIM:617140 |
| Tetrasomy 9P |
|
Biliary atresia, High palate, Micropenis, Patent foramen ovale, Bifid uvula, Absent gallbladder, ... |
ORPHA:3310 |
| Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Anal stenosis, Cryptorchidism, Re... |
ORPHA:2052 |
| Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Impulsivity, Flexion contracture, Optic atrophy, Abnormal autonomic nervous system... |
ORPHA:35069 |
| Machado-Joseph Disease |
|
Distal amyotrophy, Urinary bladder sphincter dysfunction, Abnormal autonomic nervous system physi... |
OMIM:109150 |
| Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
| Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Cleft hard palate, Vesicoureteral reflux, ... |
ORPHA:2152 |
| Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Neurogenic bladder, Multiple joint contractures, Optic atrophy, Abnormal autonomic nervous system... |
ORPHA:466934 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Hypothermia |
OMIM:618493 |
| Trisomy 18 |
|
Ventricular septal defect, Abnormality of the upper urinary tract, Cryptorchidism, Esophageal atr... |
ORPHA:3380 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morphology, Bone cyst, Abnorm... |
ORPHA:363700 |
| Septo-Optic Dysplasia Spectrum |
|
Polydipsia |
ORPHA:3157 |
| Bohring-Opitz Syndrome |
|
Nephroblastoma, Cardiomegaly, Cleft palate, Abnormal cardiac septum morphology, Urinary retention... |
ORPHA:97297 |
| Fatal Familial Insomnia |
|
Weight loss, Urinary retention, Abnormal autonomic nervous system physiology, Dysphagia |
OMIM:600072 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Hyperphosphaturia, Abnormality of renal excretion, Increased... |
ORPHA:289176 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Neurogenic bladder, Flexion contracture, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:616683 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Hydronephrosis, Cleft palate |
ORPHA:140 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal thalamic MRI signal intensity, Aggressive behavior |
ORPHA:83597 |
| 2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Supernumerary nipple, Pyloric stenosis, Compulsive behaviors, Atten... |
ORPHA:1001 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:610743 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
| Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic posterior pituitary, Dex... |
OMIM:620305 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... |
OMIM:261740 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia, Polyphagia, Obesity |
OMIM:620195 |
| Monosomy 9P |
|
Hypospadias, Cryptorchidism, Cleft palate, High palate, Ureteropelvic junction obstruction |
ORPHA:261112 |
| Lathosterolosis |
|
Bilobate gallbladder, Intrahepatic cholestasis, Osteoporosis, Horseshoe kidney, Hepatosplenomegal... |
OMIM:607330 |
| Eiken Syndrome |
|
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Thin bony cortex, Abnormal ... |
ORPHA:79106 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Increased urinary porphobili... |
ORPHA:100924 |
| Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Renal insufficiency, Cholangitis, Craniosynostosis, Splenomegaly, Biliary cirrhosis... |
OMIM:613610 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia, Obesity |
OMIM:618406 |
| Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Macroglossia, Hydronephrosis |
ORPHA:254528 |
| Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, S... |
ORPHA:358 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Cryptorchidism, Long penis, Biliary tra... |
OMIM:268300 |
| Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Telangiectasia of the skin, Reduced bone mineral density, Cognitive... |
ORPHA:1556 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Urinary incontinence, Orthostatic h... |
OMIM:105210 |
| Joubert Syndrome 1 |
|
Protruding tongue, Renal cyst, Macroglossia, Hepatic fibrosis, Nephropathy |
OMIM:213300 |
| Restrictive Dermopathy |
|
Osteopenia, Ureteral duplication, Hypospadias, Dextrocardia, Aplasia/Hypoplastia of the eccrine s... |
ORPHA:1662 |
| Joubert Syndrome 2 |
|
Renal insufficiency, High palate, Renal cyst, Nephronophthisis |
OMIM:608091 |
| Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating dehydroepiandrosterone-sulfate concentration, Increased circulating androst... |
OMIM:158330 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Atrial septal defect, Hepatoblastoma, Hepatomegaly, Exaggerated median tongue furrow,... |
OMIM:312870 |
| Microphthalmia, Syndromic 6 |
|
Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Microglossia, Renal hypoplasia, Cleft pa... |
OMIM:607932 |
| Orofaciodigital Syndrome Xiv |
|
Ventricular septal defect, Hamartoma of tongue, Epispadias, Cryptorchidism, Aplasia of the epiglo... |
OMIM:615948 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal pulmonary ... |
ORPHA:1507 |
| Chime Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Tetralogy of Fallot, Osteolysis, Cleft pala... |
ORPHA:3474 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Cryptorchidism, Hypospadias, Cleft palate, Ureterocele |
OMIM:616734 |
| Hydranencephaly |
|
Optic nerve hypoplasia, Thalamic edema, Dysgenesis of the thalamus, Antenatal intracerebral hemor... |
ORPHA:2177 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Facial palsy, Hypercapnia, Abnormal thalamic MRI signa... |
ORPHA:79138 |
| Immunodeficiency 96 |
|
Conjunctival telangiectasia, Multicystic kidney dysplasia |
OMIM:619774 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure |
ORPHA:83451 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Polydipsia, Sudden cardiac death, Dysphagia |
ORPHA:537 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Cryptorchidism, Multicystic kidney dysplasia, Anal atresia |
ORPHA:3301 |
| Pagod Syndrome |
|
Multicystic kidney dysplasia, Sudden cardiac death, Renal hypoplasia/aplasia, Situs inversus tota... |
ORPHA:991 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Intestinal polyposis, Multicystic kidney dysplasia, Osteolysis, Cleft palat... |
ORPHA:1052 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Unilateral renal agenesis, Abnormality of the endocrine system, Abnormal heart morph... |
ORPHA:487796 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Cerebral vasculitis, Abnormal autonomic nervous system physiology, Hypothyroidism, ... |
ORPHA:83601 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Hepatomegaly, Ventricular septal defect, Mitral stenosis, Hypospadias, Intestinal mal... |
ORPHA:955 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors, A... |
ORPHA:534 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Annular pancreas, Sclerosis of skull base, High pal... |
OMIM:618162 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Intestinal malrotation, Hiatus hernia, Cryptorchid... |
OMIM:601776 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Cryptorchidism, Nephrolithiasis, Nephrocalcinosis, Macroglossia, Right ventricular outlet tract o... |
OMIM:268310 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Renal dysplasia, Osteopenia, Abnormal circulating thyroid hormone concentration, Cyst of the duct... |
ORPHA:480880 |
| Pseudoaminopterin Syndrome |
|
Sagittal craniosynostosis, Asplenia, Cryptorchidism, Horseshoe kidney, High palate, Patchy reduct... |
ORPHA:221120 |
| Helix Syndrome |
|
Polydipsia |
OMIM:617671 |
| Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Pancreatic hypoplasia, Diabetes mellitus, Pancreatic aplasia |
OMIM:609069 |
| Hyperparathyroidism, Neonatal Severe |
|
Polydipsia |
OMIM:239200 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Bicuspid aortic valve, Myocardial infarction, Bilateral cryptorchidism, Partia... |
OMIM:150230 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating cortisol level, Orthostatic hypotension, Optic atrophy, Adrenocorticotropin... |
OMIM:231550 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, High, narrow palate, Rena... |
ORPHA:3015 |
| Proboscis Lateralis |
|
Ventricular septal defect, Unilateral renal agenesis, Ureteral agenesis, Duplication of renal pel... |
ORPHA:141099 |
| Melkersson-Rosenthal Syndrome |
|
Macroglossia, Abnormal autonomic nervous system physiology, Facial palsy, Oligosacchariduria |
ORPHA:2483 |
| Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Anorexia, Cardiac conduction abnormality, Oral-pharyngeal dysphagia, Aggressive... |
ORPHA:2131 |
| Yellow Fever |
|
Shock, Renal insufficiency, Anuria, Acute pancreatitis, Supraventricular arrhythmia, Hematemesis,... |
ORPHA:99829 |
| Duplication Of The Pituitary Gland |
|
Abnormality of masseter muscle, Abnormal pituitary gland morphology, Abnormal hypothalamus morpho... |
ORPHA:314621 |
| Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormality of the kidney, Abnormal stomach morphology, Abnormality of... |
ORPHA:141127 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Arthrogryposis multiplex congenita, Aganglionic megacolon, Abnormal autonomic nervous system phys... |
OMIM:243180 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Pseudobulbar paralysis, Autonomic bladder dysfunction, Autonomic erectile dysfunction, Orthostati... |
OMIM:169500 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Cryptorchidism, Renal cyst, Anteriorly placed anus, Decreased serum testosterone con... |
ORPHA:495875 |
| Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis, Anal atresia |
OMIM:271520 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Corneal scarring, Abnormal autonomic nervous system physiology, Postural hypotensi... |
OMIM:256800 |
| Cousin Syndrome |
|
Microglossia, Hydronephrosis, Cleft palate |
OMIM:260660 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Abnormal autonomic nervous system physiology |
ORPHA:163921 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Fusion of the left and right thalami, Flexion contracture |
OMIM:619306 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Insulin resistance, Long penis, Hyp... |
ORPHA:508 |
| Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Intestinal malrotation, Supernumerary nipple, Hiatus hernia, Cryptorchidism... |
OMIM:305600 |
| Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Dystonia, Ventricular septal defect, Intestinal malrotation, ... |
OMIM:616268 |
| Dyskeratosis Congenita, X-Linked |
|
Hypospadias, Phimosis, Cryptorchidism, Esophageal stricture, Urethral stenosis, Osteoporosis, Hor... |
OMIM:305000 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Macroglossia, Urinary glycosami... |
ORPHA:79255 |
| Generalized Arterial Calcification Of Infancy |
|
Adrenal calcification, Cardiomegaly, Nephrocalcinosis, Abnormal calcification of the carpal bones... |
ORPHA:51608 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Insulin resistance, Absence o... |
ORPHA:740 |
| Knobloch Syndrome 1 |
|
Duplicated collecting system, Pyloric stenosis, Bifid ureter, Hydronephrosis, Renal duplication |
OMIM:267750 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency, Abnormality of the diencephalon |
ORPHA:2165 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Torticollis, Hypospadias, Craniosynostosis, Cryptorchidism, Horseshoe kidney, High palate, Total ... |
OMIM:609945 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Recurrent urinary tract infections, Anal stenosis, Cleft palate, Hyd... |
OMIM:251260 |
| Holoprosencephaly 7 |
|
Omphalocele, Partial agenesis of the corpus callosum, Panhypopituitarism, Fusion of the left and ... |
OMIM:610828 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Pyloric stenosis, Atrial septal defect, A... |
OMIM:147791 |
| Tenorio Syndrome |
|
Hypoglycemia, Raynaud phenomenon, Enuresis, Macroglossia, Syncope, Hypoinsulinemia |
OMIM:616260 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Failure to thrive, Aggressive behavior, Tongue thrusting, Obesity... |
ORPHA:369950 |
| Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Compulsive behaviors... |
ORPHA:2388 |
| Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:605543 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Splenomegaly, Aplasia of the epiglottis, Horseshoe kidney, Atrioventricular canal d... |
OMIM:617088 |
| Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Hepatic fibrosis, Atrial septal defect, Micropenis, Hypothyroidism, Hepat... |
OMIM:243800 |
| Diamond-Blackfan Anemia |
|
Ventricular septal defect, Hypospadias, Cleft soft palate, Renal agenesis, Horseshoe kidney, Abno... |
ORPHA:124 |
| Restrictive Dermopathy 1 |
|
Ureteral duplication, Hypospadias, Adrenal hypoplasia, Submucous cleft hard palate, Decreased cal... |
OMIM:275210 |
| Acute Transverse Myelitis |
|
Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Subara... |
ORPHA:139417 |
| Coffin-Siris Syndrome 12 |
|
Hypospadias, Celiac disease, Patent foramen ovale, Velopharyngeal insufficiency, Submucous cleft ... |
OMIM:619325 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Restlessness, Facial palsy, Abnormal hypothalamus morphology, Intrarenal abs... |
ORPHA:68 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Cholecystitis, Internal hemorr... |
ORPHA:99827 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Hypogonadotropic hypogonadism, Optic atrophy, Autonomic bladder dysfunction, Dysphagia, Delayed p... |
ORPHA:447896 |
| C Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe kidney, Cleft p... |
ORPHA:1308 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... |
ORPHA:411629 |
| Erythermalgia, Primary |
|
Abnormal autonomic nervous system physiology, Palpitations |
OMIM:133020 |
| Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Orthostatic hypotension, Urinary incontinence, Urinary urgency, Abnormal... |
OMIM:146500 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Li... |
OMIM:248370 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology, Urinary inconti... |
OMIM:243000 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
| Floating-Harbor Syndrome |
|
Ivory epiphyses of the distal phalanges of the hand, Hypospadias, Aggressive behavior, Celiac dis... |
OMIM:136140 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Urinary incontinence, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physio... |
ORPHA:247234 |
| Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
| Inherited Creutzfeldt-Jakob Disease |
|
Vestibular nystagmus, Abnormal autonomic nervous system physiology |
ORPHA:282166 |
| Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Diabetes mellitus, Hand muscle weakness, Fatty replacement of skeletal musc... |
ORPHA:98908 |
| Microphthalmia With Limb Anomalies |
|
Cryptorchidism, High palate, Cleft palate, Horseshoe kidney |
ORPHA:1106 |
| Solitary Fibrous Tumor |
|
Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Urinary retention, Hy... |
ORPHA:2126 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Ventricular septal defect, Complete atrioventricular canal defect,... |
OMIM:236680 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Ventricular septal defect, Aggressive behavior, Hair-pulling, Polyphagia, Hydronephr... |
OMIM:620330 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Anal stenosis, Ventricular septal defect, Cryptorchidism, Malrotati... |
OMIM:606170 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Transient ischemic attack, Unilateral renal agenesis, Bilateral renal dysplas... |
ORPHA:500150 |
| Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Bilateral cryptorchidism, High, narrow palate, Hepatic hemangioma, High pala... |
OMIM:180849 |
| Joubert Syndrome 21 |
|
Splenomegaly, Hyperechogenic kidneys, Renal cyst |
OMIM:615636 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Fever, Chylopericardium, Hem... |
ORPHA:538 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Duplicated collecting system, Annular pancreas, Ankyloglossia, Cleft palate |
ORPHA:488642 |
| Parkinson Disease, Late-Onset |
|
Urinary urgency, Abnormal autonomic nervous system physiology, Dysphagia |
OMIM:168600 |
| Parkinsonian-Pyramidal Syndrome |
|
Hypomimic face, Neurogenic bladder, Abnormal autonomic nervous system physiology, Dysphagia |
ORPHA:171695 |
| Juvenile Nephropathic Cystinosis |
|
Polydipsia, Hypovolemia |
ORPHA:411634 |
| Caribbean Parkinsonism |
|
EMG: myopathic abnormalities, Orthostatic hypotension, Abnormal autonomic nervous system physiolo... |
ORPHA:97355 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Cryptorchidism, Telangiectasia, Hypogonadism, At... |
ORPHA:221008 |
| Hypomagnesemia 3, Renal |
|
Polydipsia |
OMIM:248250 |
| Bone Marrow Failure Syndrome 3 |
|
Hyperactivity, Pancreatic steatosis, Cryptorchidism, Reduced bone mineral density, Hyperechogenic... |
OMIM:617052 |
| Prader-Willi Syndrome |
|
Decreased muscle mass, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul... |
OMIM:176270 |
| Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Patent ductus arteriosus, Abnormal autonomic nervous system physiology, De... |
ORPHA:1051 |
| Trisomy 10P |
|
Absent gallbladder, Abnormality of the kidney, Abnormal heart morphology, High palate, Multiple r... |
ORPHA:171929 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic disc pallor, Failure to thrive, Limb joint contracture, Facial hypotonia, Small for gestati... |
ORPHA:404454 |
| Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Sagittal craniosynostosis... |
ORPHA:79500 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex |
OMIM:600081 |
| Acute Promyelocytic Leukemia |
|
Addictive alcohol use, Epistaxis, Anorexia, Diffuse alveolar hemorrhage |
ORPHA:520 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Absent sternal ossification, Hypospadias, Delayed epiphyseal ... |
OMIM:114290 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Cryptorchidism, Narrow palate, Macroglossia, Right ventricular outlet tract obstruction, High pal... |
OMIM:180700 |
| Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex... |
OMIM:167800 |
| Stuve-Wiedemann Syndrome 1 |
|
Elbow flexion contracture, Dysphagia, Contracture of the proximal interphalangeal joint of the 5t... |
OMIM:601559 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Cleft palate, Glossoptosis, Short hard p... |
ORPHA:1393 |
| Mesomelia-Synostoses Syndrome |
|
Hydronephrosis, Absent uvula |
OMIM:600383 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Portal hypertension, Sho... |
OMIM:609136 |
| Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Anal stenosis, Ventricular septal defect, Intestinal malrotation, C... |
OMIM:300373 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Abnormal autonomic nervous system physiology, Aggressive behavior |
OMIM:300894 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... |
ORPHA:103918 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Decreased calvarial ossification, Hydronephrosis |
OMIM:610682 |
| Isolated Osteopoikilosis |
|
Addictive alcohol use |
ORPHA:166119 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of the diencephalon, Abnormal renal tubule morphology |
ORPHA:2720 |
| Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ... |
ORPHA:273 |
| Proteus Syndrome |
|
Thymus hyperplasia, Macroorchidism, Sudden cardiac death, Pulmonary embolism, Neoplasm of the thy... |
ORPHA:744 |
| Proximal Renal Tubular Acidosis |
|
Polydipsia, Hypovolemia |
ORPHA:47159 |
| Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Cleft... |
OMIM:610188 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Cryptorchidism, Osteoporosis, Telangiectasia, Anteriorly placed anus, High palate, Hypogonadism, ... |
OMIM:268400 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Recurrent hand flapping, Agitation, Abnormal autonomic nervous system physiology, Bruxism |
OMIM:617903 |
| Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Low-to-normal blood pressure |
OMIM:241200 |
| Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response, Diabetes mellitus, Hypothyroidism |
ORPHA:3198 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
| Haddad Syndrome |
|
Small for gestational age, Failure to thrive, Aganglionic megacolon, Abnormal autonomic nervous s... |
ORPHA:99803 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... |
ORPHA:309246 |
| Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
| Young-Onset Parkinson Disease |
|
Restless legs, Agitation, Abnormal autonomic nervous system physiology, Impulsivity |
ORPHA:2828 |
| Pmm2-Cdg |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Intracranial hemorrha... |
ORPHA:79318 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Cleft palate, Renal cyst |
OMIM:272460 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
| Herpes Simplex Virus Encephalitis |
|
Addictive alcohol use |
ORPHA:1930 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Duodenal atresia |
ORPHA:1203 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia, Decreased thalamic volume |
ORPHA:168577 |
| Hyperekplexia 3 |
|
Exaggerated startle response, Syncope, Hiatus hernia |
OMIM:614618 |
| Atelis Syndrome 2 |
|
Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormone concentration, Hyperin... |
OMIM:620185 |
| Tick-Borne Encephalitis |
|
Skeletal muscle atrophy, Facial palsy, Elevated circulating C-reactive protein concentration, Ano... |
ORPHA:297 |
| Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, High, narrow palate, Right ventricular dilatation, High p... |
OMIM:619472 |
| Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Steatorrhea, High palate, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617941 |
| Cystinosis, Nephropathic |
|
Polydipsia, Dysphagia, Oral-pharyngeal dysphagia |
OMIM:219800 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Aganglionic megacolon, Decreased heart rate variability, Hypercapnia, Hypoxemia, Abnormal autonom... |
OMIM:209880 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Telangiectasia of the skin, Reduced bone mineral... |
ORPHA:2909 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
High palate, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Absent gallbladder |
ORPHA:556955 |
| Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas, Esophageal atresia, Duodenal atresia |
ORPHA:1305 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, High palate, Type I diabetes mellitus, Pancreatic aplasia, Diabetes insipidus... |
OMIM:618500 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Orthostatic tachycardia, Neoplasm of the thymus, Hypersexuality, Agitati... |
ORPHA:217253 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
| Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Cryptorchidism, Cleft palate, Sclerosis of skull base, Nonossified fifth metatarsal,... |
OMIM:304120 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Unilateral renal agenesis, Rena... |
OMIM:308205 |
| Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... |
OMIM:164280 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology |
OMIM:614575 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Cryptorchidism, Cleft palate, High palate |
ORPHA:221016 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Abnormal trabecular bone morphology, Osteopetrosis, Hepatomegaly |
OMIM:612301 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Recurrent urinary tract infections, Allodynia, Anorexia |
ORPHA:51890 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... |
ORPHA:64 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... |
OMIM:253800 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Congenital hypothyroidism, High palate, Cognitive impairment, Dysph... |
OMIM:617527 |
| Branchiooculofacial Syndrome |
|
Hypospadias, Renal agenesis, Supernumerary nipple, Malrotation of colon, Cryptorchidism, Pyloric ... |
OMIM:113620 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Irritability, Exaggerated startle response, Short attention span |
OMIM:617864 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Depression |
OMIM:620114 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Agitation, High palate |
OMIM:618056 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Exaggerated startle response |
OMIM:616881 |
| Non-24-Hour Sleep-Wake Syndrome |
|
Abnormal pineal melatonin secretion |
ORPHA:73267 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Exaggerated startle response, High palate, Dystonia |
ORPHA:438216 |
| Leprosy |
|
Skeletal muscle atrophy, Epistaxis, Abnormality of the seventh cranial nerve, Abnormality of the ... |
ORPHA:548 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Abnormal autonomic nervous system physiology, Optic neuropathy |
ORPHA:478029 |
| Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Small for gestational age, Abnormal pineal melatonin secretion, Increased serum bile acid concent... |
ORPHA:69665 |
| Norrie Disease |
|
Failure to thrive, Diabetes mellitus, Cachexia, Optic atrophy, Self-injurious behavior, Attention... |
ORPHA:649 |
| Asparagine Synthetase Deficiency |
|
Tremor, Irritability, Exaggerated startle response |
OMIM:615574 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:616840 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
| Porphyria Cutanea Tarda |
|
Addictive alcohol use |
ORPHA:101330 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Exaggerated startle response, High palate, Dystonia |
ORPHA:521426 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Agenesis of pineal gland, Multiple joint contractures, Inguinal hernia, Optic nerve hypoplasia, F... |
ORPHA:536471 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Hiatus hernia |
OMIM:614619 |
| Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Knee flexion contracture... |
ORPHA:3206 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Dysphagia |
OMIM:617301 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response |
OMIM:617281 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
| Lambert-Eaton Myasthenic Syndrome |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:43393 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Trigeminal Neuralgia |
|
Allodynia, Depression |
ORPHA:221091 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Malabsorption, Intestinal perforation, Dement... |
OMIM:603041 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
| Benign Schwannoma |
|
Intestinal polyposis, Abnormality of the liver, Abnormality of the adrenal glands, Abnormal parot... |
ORPHA:252164 |
| Pallister-Killian Syndrome |
|
Renal dysplasia, Anal stenosis, Ventricular septal defect, Hypospadias, Intestinal malrotation, S... |
OMIM:601803 |
| Neurotrophic Keratopathy |
|
Diabetes mellitus, Allodynia |
ORPHA:137596 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Fever, Irritability, Exaggerated startle response, Dysphagia |
OMIM:618367 |
| Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
