Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ... |
OMIM:606685 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Feeding difficulties in infancy, Hyperkalemia, Growth delay, In... |
OMIM:203400 |
Cardiomyopathy, Dilated, 1Ff |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613286 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu... |
ORPHA:556037 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... |
OMIM:604765 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu... |
ORPHA:556030 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Mungan Syndrome |
|
Tricuspid regurgitation, Gastroparesis, Intestinal pseudo-obstruction, Barrett esophagus, Hypoper... |
OMIM:611376 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was... |
OMIM:610600 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Short stature, Polyuria, Nephrogenic diabetes insipidus, Feeding difficulties ... |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Short stature, Polyuria, Feeding difficulties in infancy, Megacystis, Vomiting... |
OMIM:304800 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Adrenomyodystrophy |
|
Megacystis, Myopathy, Abnormality of the urinary system, Abnormal intestine morphology, Failure t... |
ORPHA:977 |
Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:613122 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Familial Hypoaldosteronism |
|
Hyponatremia, Nausea and vomiting, Orthostatic hypotension, Decreased urinary potassium, Renal sa... |
ORPHA:427 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Cardiomyopathy, Dilated, 3B |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Increased circulating cr... |
OMIM:302045 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyelectasis, Meg... |
OMIM:619365 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Diarrhea, Hyperkalemia, Feeding difficulties, Hyperactive renin-angiotensin system,... |
OMIM:177735 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, ... |
ORPHA:79159 |
Cardiomyopathy, Dilated, 1X |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611615 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Death in infancy, Multicystic kidney dysplasia, Hydroureter, Abnormality of ... |
ORPHA:2241 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Ileal atresia, Abdominal distention, Patent ductus arteriosus, Peritonitis, Megacystis, P... |
OMIM:619351 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Cardiomyopathy, Dilated, 2C |
|
Death in infancy, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Death in ch... |
OMIM:618189 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Short stature, Dilated cardiomyopathy, Gastroesophageal reflux, Decreased body weight, Intrauteri... |
OMIM:618097 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Diarrhea, Elevated circulating creatinine conc... |
OMIM:235400 |
Hypocalcemia, Autosomal Dominant 1 |
|
Short stature, Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, ... |
OMIM:601198 |
Gitelman Syndrome |
|
Prolonged QT interval, Polyuria, Abdominal pain, Renal magnesium wasting, Hypomagnesemia, Ventric... |
OMIM:263800 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Dilated cardiomyopathy, Feeding difficulties, Arrhythmia, Intrauterine ... |
OMIM:616198 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... |
OMIM:619897 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Microcolon, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension |
OMIM:267430 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Myocardial infarction, Decreased urinary potassium, Renal s... |
ORPHA:95409 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions... |
ORPHA:544482 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... |
OMIM:241150 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Failure to thrive, Short stature, Abnormal urine sodium concentration, Nephr... |
ORPHA:320 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensiti... |
ORPHA:171876 |
Familial Cylindromatosis |
|
Telangiectasia of the skin |
ORPHA:211 |
Visceral Myopathy 1 |
|
Aganglionic megacolon, Gastroparesis, Intestinal pseudo-obstruction, Abdominal pain, Abdominal di... |
OMIM:155310 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Myocardial infarction, Abdominal pain, Intestinal perforation, Rectal prola... |
ORPHA:90038 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Dilated cardiomyopathy, Constipation, Third degree atrioventricular block, Bradycardia,... |
OMIM:601419 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci... |
ORPHA:90791 |
American Trypanosomiasis |
|
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Myocarditis, Congesti... |
ORPHA:3386 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Short stature, Small for gestational age, Chronic k... |
ORPHA:97362 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Death in infancy, Hypospadias, Dilated cardiomyopathy, Micropenis, Bradycardia, Hypertrophic card... |
OMIM:618815 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... |
OMIM:620152 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Recurre... |
OMIM:620300 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Oliguria, Weight loss, ... |
ORPHA:188 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Postnatal... |
OMIM:610198 |
D-2-Hydroxyglutaric Aciduria 2 |
|
D-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric acidemia, Cardiomyopathy |
OMIM:613657 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Abdominal pain, Urolithiasis, Nephrolithi... |
OMIM:614723 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Short stature, Polyuria, Renal salt wasting, Enuresis, Hypertension, Hyperaldosteronism, Hypocalc... |
OMIM:612780 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr... |
OMIM:601678 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Malonyl-Coa Decarboxylase Deficiency |
|
Short stature, Left ventricular noncompaction cardiomyopathy, Abdominal pain, Diarrhea, Dilated c... |
OMIM:248360 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence |
ORPHA:2795 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Large for gestational age, Hyperinsulinemia, Feeding difficulties, Decreased circula... |
ORPHA:276575 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:615184 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr... |
OMIM:181350 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neoplasm, Chronic kidney... |
ORPHA:1018 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Short stature, Poor suck, Decreased body weight |
OMIM:300580 |
Moyamoya Disease 1 |
|
Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Decreased urinar... |
ORPHA:85138 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Atrial septal defect, Hypospadias, ... |
ORPHA:209905 |
Microcephaly-Cardiomyopathy Syndrome |
|
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect, Short stature |
ORPHA:2515 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia, Achalasia |
OMIM:615750 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Skeletal muscle atrophy, Urinary retention, Urinary incontinence, Foot dorsiflexor weakness |
OMIM:616586 |
Bartter Syndrome Type 4 |
|
Renal salt wasting, Nephrocalcinosis, Increased circulating renin level, Vomiting, Hyponatremia, ... |
ORPHA:89938 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephri... |
ORPHA:94080 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Intestinal malrotation, Megacystis, Hydronephrosis, Microcolon |
OMIM:619431 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Feeding difficulties... |
ORPHA:276580 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Death in early adulthood, Right axis deviation, Elevated jugular venous pressure, Short stature, ... |
OMIM:255160 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Large for gestational age, Feeding difficulties, Decreased circulating free fatty ac... |
ORPHA:276556 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Short stature, Anorexia, Paroxysmal... |
ORPHA:49827 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Obesity, Hypogonadism, Atrial s... |
OMIM:615981 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:620125 |
Sepsis In Premature Infants |
|
Tachycardia, Small for gestational age, Elevated circulating C-reactive protein concentration, Ab... |
ORPHA:90051 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... |
OMIM:619371 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Death in infancy, Left ventricular noncompaction cardiomyopathy, Elevated circulating creatine ki... |
OMIM:619424 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... |
OMIM:616730 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... |
OMIM:617912 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
ORPHA:154 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Elevated circulating creatine k... |
OMIM:608099 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Ad... |
OMIM:617053 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... |
ORPHA:199343 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulating acylcarnitin... |
ORPHA:159 |
Diffuse Cutaneous Systemic Sclerosis |
|
Nausea and vomiting, Renal insufficiency, Telangiectasia of the skin, Malabsorption, Congestive h... |
ORPHA:220393 |
Cleft Larynx, Posterior |
|
Aspiration |
OMIM:215800 |
2p15-16.1 microdeletion syndrome |
|
Camptodactyly of finger, Hydronephrosis |
DECIPHER:70 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Nausea and vomiti... |
ORPHA:727 |
Cyclic Vomiting Syndrome |
|
Anorexia, Abdominal pain, Gastrointestinal dysmotility, Growth delay, Cardiomyopathy, Vomiting, P... |
OMIM:500007 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Hypera... |
OMIM:618120 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Bifid uvula, Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Neurogenic bladder, Urinary incontinence, Functional abnormality of... |
ORPHA:79093 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604286 |
Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Transient ischemic attack, Abnormality of the kidney, ... |
ORPHA:167635 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Myopathy, Distal, 1 |
|
Left atrial enlargement, Dilated cardiomyopathy, Elevated circulating creatine kinase concentrati... |
OMIM:160500 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy, Elevated circulat... |
ORPHA:206546 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Nephropathy, ... |
ORPHA:324 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo... |
OMIM:300539 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... |
ORPHA:90064 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia |
OMIM:618196 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Congestive heart failure, Increased circulating ferritin concentra... |
OMIM:602390 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... |
OMIM:614672 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... |
OMIM:615474 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased circulating ren... |
OMIM:241200 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Diarrhea, Hypovolemia, ... |
ORPHA:31824 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:300718 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Feeding difficulties in infancy, Fasting hyperinsulinemia, Hepatic necrosi... |
ORPHA:71212 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp... |
OMIM:103900 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:612937 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Poor appetite... |
ORPHA:352447 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati... |
ORPHA:168558 |
Porphyria, Acute Intermittent |
|
Dysuria, Urinary incontinence, Paralytic ileus, Urinary retention, Elevated urinary delta-aminole... |
OMIM:176000 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Dilated cardiomyopathy, Reduced systolic function, Elevated circulating creatine kinase concentra... |
OMIM:616827 |
X-Linked Intellectual Disability, Schimke Type |
|
Hip contracture, Failure to thrive in infancy, Ankle flexion contracture, Elbow flexion contractu... |
ORPHA:85285 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Elevated circulating creatine kinase concentration, Feeding difficulties, Cardiomyopathy, Organic... |
OMIM:255100 |
Fatal Familial Insomnia |
|
Urinary retention, Weight loss |
OMIM:600072 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
Apparent Mineralocorticoid Excess |
|
Small for gestational age, Short stature, Growth delay, Hypertension, Hypokalemia, Failure to thr... |
OMIM:218030 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Feeding difficulties in infancy, Dilated cardio... |
OMIM:231530 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Feeding difficulties in infancy, Dilated cardiomyopathy, Dysphagia, Slender build, Mildly elevate... |
OMIM:161800 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Achalasia, Severe short stature |
ORPHA:3239 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Pallor, Anorexia |
ORPHA:79283 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Miscarriage, Achlorhydria, Abdominal p... |
ORPHA:173 |
Familial Visceral Myopathy |
|
Hydroureter, Aganglionic megacolon, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal ... |
ORPHA:2604 |
Liddle Syndrome 1 |
|
Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease... |
OMIM:177200 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, ... |
ORPHA:324575 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Elevate... |
ORPHA:206559 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur... |
OMIM:611705 |
Gaisböck Syndrome |
|
Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Peptic ulcer, Ov... |
ORPHA:90041 |
Dpm3-Cdg |
|
Elevated creatine kinase after exercise, Dilated cardiomyopathy |
ORPHA:263494 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Dec... |
OMIM:613677 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... |
ORPHA:231625 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Poor appetite, Nausea, Heart block, Diarrhea, Elevated circulating creatinine concen... |
ORPHA:542323 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Pallor, Dysphagia, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:613561 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Acute Intermittent Porphyria |
|
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Dysuria, Urinary incont... |
ORPHA:79276 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
Iatrogenic Botulism |
|
Xerostomia, Urinary retention |
ORPHA:254509 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Short stature, Minimal chang... |
OMIM:618348 |
Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
ORPHA:79230 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
ORPHA:34515 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy |
OMIM:610140 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Vomiting |
OMIM:620126 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Reduced systolic function, Failure to thrive in infancy, Chronic diarrhea, Dilated cardiomyopathy... |
OMIM:618805 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Feeding difficulties,... |
OMIM:619167 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
Achalasia-Microcephaly Syndrome |
|
Growth delay, Achalasia |
ORPHA:929 |
Rheumatic Fever |
|
Nausea and vomiting, Pericarditis, Abnormal heart valve morphology, Epistaxis, Anorexia, Abdomina... |
ORPHA:3099 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Constipation, Nephro... |
ORPHA:85447 |
Inhalational Botulism |
|
Xerostomia, Urinary retention |
ORPHA:254504 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Intestinal malrotation, Hypoperistalsis, Patent ductus arteriosus, Hypertension, Atrial septal de... |
OMIM:613834 |
Yellow Fever |
|
Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Supravent... |
ORPHA:99829 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Abdominal distention, Secretory diarrhea, Hypochloremia, Growth delay, Hypokalemia,... |
OMIM:214700 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Short stature, Overweight, Dilated cardiomyopathy, R... |
ORPHA:401923 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Abdominal pain, Malabsorption, Chronic kidney disease, Ch... |
ORPHA:85445 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Hyperalaninemia, Elevated urinary 4-hydroxybutyric acid, Redundant neck skin, Lacticaciduria, Hyp... |
OMIM:619003 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Adrenal pheochromocytoma, Pallor, Positive regitine blocking test, Nausea, Extraadrenal pheochrom... |
ORPHA:276621 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Short stature, Secundum atrial septal defect, Feeding difficulties, Pe... |
OMIM:600987 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Death in infancy, Cardiomyopathy |
OMIM:212080 |
Amyloidosis, Finnish Type |
|
Renal insufficiency, Cutis laxa, Nephrotic syndrome, Cardiomyopathy, Cardiac amyloidosis |
OMIM:105120 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyopathy, Ventric... |
OMIM:600649 |
Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Neuromuscular dysphagia, Mildly elevated creatine kinase, Feeding difficu... |
ORPHA:171442 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Myocarditis, F... |
ORPHA:319213 |
Tetrasomy 18P |
|
Achalasia, Syncope |
ORPHA:3307 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Dilated cardiomyopathy |
OMIM:619903 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Botulism |
|
Xerostomia, Urinary retention |
ORPHA:1267 |
Isolated Atp Synthase Deficiency |
|
Short stature, Dilated cardiomyopathy, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic acidu... |
ORPHA:254913 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... |
ORPHA:231580 |
Wound Botulism |
|
Urinary retention |
ORPHA:178475 |
Achalasia-Microcephaly Syndrome |
|
Achalasia |
OMIM:200450 |
Triple A Syndrome |
|
Achalasia, Anterior hypopituitarism, Short stature, Adrenal insufficiency |
ORPHA:869 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Dicarboxylic aciduria, Elevated creatine kinase after exercise, Sudden car... |
ORPHA:99901 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Pollakisuria, Urinary retention, Skeletal muscle atrophy |
ORPHA:447760 |
Lassa Fever |
|
Shock, Nausea and vomiting, Miscarriage, Abdominal pain, Diarrhea, Oliguria, Dysphagia |
ORPHA:99824 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Neph... |
OMIM:143880 |
Foodborne Botulism |
|
Xerostomia, Urinary retention |
ORPHA:228371 |
Cardiomyopathy, Dilated, 2E |
|
Death in infancy, Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricu... |
OMIM:619492 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Short stature, Anorexia, Nephrocalcinosis, Hypokalemia, Pallor, Distal renal tubular... |
OMIM:611590 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Death in infancy, Dicarboxylic aciduria, Congestive heart failure, Dilated cardiomyopathy, Death ... |
OMIM:611126 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Dilated cardi... |
OMIM:615084 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Functional abnormality of the bladder, Small for gestational age |
OMIM:300076 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo... |
ORPHA:26793 |
Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Pericarditis, Abnormality of the kidney, Elevated circ... |
ORPHA:767 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Short stature, Premature thelarche, Ren... |
ORPHA:90795 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Adre... |
ORPHA:231632 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy, Carnosinuria |
OMIM:309930 |
Leprechaunism |
|
Postnatal growth retardation, Abdominal distention, Rectal prolapse, Long penis, Hyperinsulinemia... |
ORPHA:508 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ... |
ORPHA:90793 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Achalasia, Short stature, Decreased response to growth hormone stimulation test |
ORPHA:436174 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Achalasia |
ORPHA:2400 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Solitary Fibrous Tumor |
|
Urinary retention, Weight loss |
ORPHA:2126 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
Dk1-Cdg |
|
Short stature, Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Inter... |
ORPHA:91131 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertr... |
ORPHA:1349 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Adrenomyeloneuropathy |
|
Urinary incontinence, Urinary urgency, Urinary retention, Leg muscle stiffness, Urinary bladder s... |
ORPHA:139399 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Achalasia, Short stature |
OMIM:221350 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Enuresis, Achalasia, Abnormality of the adrenal glands, Dysphagia |
ORPHA:289483 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Recurrent urinary tract infections, Achalasia, Urinary incontinence |
OMIM:609033 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Cardiomegaly, Congestive heart failure, Feeding difficulties, Reduced left vent... |
OMIM:614096 |
Macdermot-Winter Syndrome |
|
Camptodactyly of finger, Hydronephrosis |
OMIM:247990 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Left ventricular noncompaction, Short stature |
OMIM:252011 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
ORPHA:280679 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycard... |
OMIM:605676 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Short stature, Elevated circulating creatine kinase concentration, Feeding difficulties in infanc... |
ORPHA:324525 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Adrenal pheochromocytoma, Pallor, Positive regitine blocking test, Nausea, Extraadrenal pheochrom... |
ORPHA:29072 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Failure to thrive, Dilated cardiomyopathy, Feeding difficulties, Dysphagia |
OMIM:255310 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Achalasia, Short stature, Dysphagia |
ORPHA:79107 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Decreased urinary potassium, Rhabdomyolysis, Obesity, Weight lo... |
ORPHA:79102 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... |
OMIM:616963 |
Myopathy, Centronuclear, 5 |
|
Mitral regurgitation, Dilated cardiomyopathy, Abnormal circulating creatine kinase concentration |
OMIM:615959 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Increased circulating free fatty acid level, Diarrhea, Dilated cardiomyopathy, ... |
OMIM:610768 |
Dystonia-Deafness Syndrome 1 |
|
Achalasia, Small for gestational age, Pseudobulbar paralysis, Dysphagia |
OMIM:607371 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... |
ORPHA:567548 |
Immunodeficiency 70 |
|
Celiac disease, Achalasia, Colitis |
OMIM:618969 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Renal agenesis, Hypogonadotropic hypogonadism, Short stature, Congestive he... |
ORPHA:2326 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Decreased response to growth hormone stimulation... |
OMIM:609053 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hypergonadotr... |
OMIM:203800 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia, Pallor, ... |
ORPHA:276608 |
Melas |
|
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Vomi... |
ORPHA:550 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Abdominal pain, Congestive heart failure, Dil... |
OMIM:615895 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Feeding d... |
OMIM:608836 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Small intestinal dysmotility, Urinary incontinence, Sinus bradycardia, Feeding difficulties, Chro... |
OMIM:619482 |
Fanconi Anemia, Complementation Group O |
|
Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Small thenar eminence, Neonatal death... |
OMIM:613390 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentratio... |
ORPHA:263455 |
Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:324588 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Methylglutaric ac... |
OMIM:246450 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Anal stenosis, Hydroureter, Renal agenesis, Absenc... |
OMIM:604292 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Gastritis, N... |
ORPHA:31826 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Short stature, Celiac disease, Abnormal intestine morphology, Delayed puberty, Type I diabetes me... |
OMIM:615952 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Congestive heart failure, Pallor, Increased total bilirubin |
ORPHA:90037 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis |
OMIM:607598 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Feeding difficulties in infancy, Diarrhea, Hyperkalemia, Hypera... |
OMIM:264350 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Short stature, Bidirectional ventricular ectopy, Polymorphic ventricular t... |
ORPHA:37553 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Hydronephrosis, Anal atresia |
OMIM:235760 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Elevated ci... |
OMIM:614921 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Congenital Myopathy 19 |
|
Skeletal muscle atrophy, Facial hypotonia, Renal atrophy, Congenital contracture, High palate, Hy... |
OMIM:618578 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Bicuspid aortic valve, Unilateral renal agenesis, Patent ductus arteriosus, Ure... |
OMIM:618845 |
Propionic Acidemia |
|
Hyperammonemia, Cardiomyopathy, Organic aciduria, Constipation, Arrhythmia |
ORPHA:35 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating cortisol level, Orthostatic hypotension, Short stature, Adrenocorticotropin... |
OMIM:231550 |
Cat-Eye Syndrome |
|
Anal atresia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Elevated circulating creatine kinase ... |
OMIM:607155 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:619688 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Urinary retention, Failure to thrive in infancy |
ORPHA:79124 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Sinus tachycardia, Elevated circulating creatine kinase concentration, Nau... |
ORPHA:466650 |
Neutrophilic Dermatosis, Acute Febrile |
|
Elevated circulating C-reactive protein concentration, Dilated cardiomyopathy, Erythema, Pyoderma... |
OMIM:608068 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Benign Paroxysmal Torticollis Of Infancy |
|
Vomiting, Pallor |
ORPHA:71518 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Short stature, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopa... |
OMIM:208000 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss, Oliguria, Anorexia, Central hypothyroidism |
ORPHA:514 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia |
OMIM:615506 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Bilateral wrist flexion contracture, Cleft palate, Congenital contracture, Lowe... |
ORPHA:97297 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Esophageal varix, Abnormal... |
ORPHA:367 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Death in infancy, Dilated cardiomyopathy, Vomiting, Hyperglycinemia, Hypertrophic cardiomyopathy |
OMIM:614299 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... |
OMIM:615996 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur, Bacterial endocarditis |
ORPHA:1054 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal a... |
ORPHA:90324 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Severe short stature, Abnormal heart valve morphology, Congestive heart failure... |
OMIM:230500 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Bowel incontinence, Conges... |
ORPHA:330001 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Renal insufficiency, Fatal liver failure in infancy |
ORPHA:254857 |
Liddle Syndrome 2 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:618126 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Hypoplasia of penis, Muscular ventricular septal defect, Dilated cardiomyo... |
ORPHA:66634 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Cardiac arrest, Anorexia, Reye syndrome-like episodes, Diarrhea, Dilated cardiomyopath... |
ORPHA:20 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormality of the kidney, Chroni... |
ORPHA:79327 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:300376 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Esophageal stenosis, Decreased serum iron, Esophageal stricture, Dilated cardi... |
ORPHA:89842 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Arrhythmia, Pallor, Diarrhea |
ORPHA:29822 |
Prune Belly Syndrome |
|
Atrial septal defect, Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract ... |
ORPHA:2970 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Diarrhea, Erythema, Neuromuscular dy... |
ORPHA:449285 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy |
OMIM:606703 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Intrauterine growth retardation, Dilated cardiomyopathy |
ORPHA:272 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98853 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Cleft palate, Decreased body weight, Vesicoureteral reflux, Arthrogryposis multiplex congenita, H... |
OMIM:618265 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Short stature, Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone leve... |
OMIM:202010 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Hypopituitarism, Diabetes mellitus, Failure to thrive in infancy, Hepatocellu... |
ORPHA:231226 |
Laing Early-Onset Distal Myopathy |
|
Dilated cardiomyopathy, Mildly elevated creatine kinase |
ORPHA:59135 |
Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Skin ulcer, Pallor, Abnormality of iron homeostasis, Hypertrophic ... |
ORPHA:848 |
Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Pallor, Failure to t... |
ORPHA:99931 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98855 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Urinary urgency, Recurrent urinary tract infections, Flexion contracture, Urinary retention |
ORPHA:99027 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart failure, Dilat... |
OMIM:310200 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas... |
OMIM:613845 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Erythema, Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Myopathy, Hydronephrosis |
OMIM:278300 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Small for gestational age, Urinary retention |
OMIM:617799 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... |
OMIM:614492 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation |
OMIM:257500 |
Primary Lateral Sclerosis, Juvenile |
|
Pseudobulbar paralysis, Pallor, Dysphagia |
OMIM:606353 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:256100 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypertension, Cardiomyopathy, Hyperuricemia, Arrhythmia |
ORPHA:3222 |
Acute Myelomonocytic Leukemia |
|
Pallor, Weight loss |
ORPHA:517 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... |
ORPHA:100080 |
Prune Belly Syndrome |
|
Hydroureter, Xerostomia, Aplasia of the abdominal wall musculature, Congenital posterior urethral... |
OMIM:100100 |
Adenohypophysitis |
|
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating ... |
ORPHA:95512 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Retinitis Pigmentosa 51 |
|
Pallor, Abnormality of the kidney, Obesity |
OMIM:613464 |
Neuroendocrine Tumor Of The Rectum |
|
Abnormal pulmonary valve cusp morphology, Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypic... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Abnormal pulmonary valve cusp morphology, Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypic... |
ORPHA:100082 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f... |
ORPHA:73224 |
Aapoaiv Amyloidosis |
|
Left bundle branch block, Sinus bradycardia, Elevated circulating creatinine concentration, Cardi... |
ORPHA:439232 |
Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Hyperthyroidism, Elevated circulating creatine kinase concentration, Diabete... |
ORPHA:254892 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Abnormal cardiac ventricular function, Elevate... |
ORPHA:2394 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,... |
ORPHA:95513 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Pallor, Increased total bilirubin |
ORPHA:90036 |
Acute Transverse Myelitis |
|
Urinary incontinence, Upper limb muscle weakness, Paralytic ileus, Urinary retention, Urinary bla... |
ORPHA:139417 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Diarrhea, Death in adolescence, Proximal tubulopathy, Vomiting, Death in childhood, Typ... |
OMIM:560000 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopat... |
OMIM:249270 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Cardiomyopath... |
OMIM:212112 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Death in infancy, Elevated circulating creatine kinase concentration, Feeding diffi... |
OMIM:610505 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:602541 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Short stature, Esophageal stricture, Chronic diarrhea, Dilated cardiomyopathy... |
OMIM:613989 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,... |
ORPHA:91355 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Anorexia, Diarrhea, Hyperammonemia, Weight loss, Hypertension, Vomiting, Hyperuricemia... |
ORPHA:134 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hypopituitarism, Diabetes mellitus, Failure to thrive in infancy, Hepatocellu... |
ORPHA:231214 |
Parkes Weber Syndrome |
|
Nephrotic syndrome, Abnormality of the urinary system, Urinary retention, Lower limb muscle weakn... |
ORPHA:90307 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Anorexia, Renal salt wasting, Vomiting, Hyponatremia, Impai... |
ORPHA:361 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Short stature, Unilateral renal agenesis, Ectopic kidney, Dilated cardiomyopat... |
OMIM:616541 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Carnitine Deficiency, Systemic Primary |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiomegaly, Congesti... |
OMIM:212140 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Hydronephrosis |
OMIM:617127 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Hypotaurinemia, Mitral valve prolapse |
OMIM:145350 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... |
ORPHA:398124 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Diabetes mellitus, Hepatocellular carcinoma, High-output congestive heart fai... |
ORPHA:231222 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Xerostomia, Hypoalbuminemia, Abnormal EKG, Abnorma... |
ORPHA:85443 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Short stature, Rhizomelia, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney di... |
OMIM:617661 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Esophageal stenosis, Feeding difficulties, Adrenal insufficiency, Dyspha... |
OMIM:615510 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block, Abdominal pain, Patent ductus arteriosu... |
ORPHA:589821 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Failure to thrive, Recurrent urinary tract infections |
OMIM:619218 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Recurrent urinary tract infections, Renal insufficienc... |
ORPHA:731 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Death in infancy, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:201475 |
Achalasia, Familial Esophageal |
|
Achalasia, Xerostomia |
OMIM:200400 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Myocardial infarction, Abdom... |
ORPHA:892 |
Hemoglobin D Disease |
|
Pallor, Abdominal pain |
ORPHA:90039 |
Mcleod Syndrome |
|
Atrial fibrillation, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, ... |
OMIM:300842 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Pulmon... |
ORPHA:79282 |
Analbuminemia |
|
Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL cholester... |
OMIM:616000 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Dicarboxylic aciduria, Cardiac arrest, Elevated circulating creatine kin... |
OMIM:212138 |
Esophageal Atresia |
|
Maternal diabetes, Feeding difficulties in infancy, Gastrointestinal dysmotility, Anorectal anoma... |
ORPHA:1199 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Abnorm... |
ORPHA:860 |
Cold Agglutinin Disease |
|
Nausea and vomiting, Abnormal urinary color, Diarrhea, Pallor |
ORPHA:56425 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... |
ORPHA:2041 |
Neuroendocrine Tumor Of Stomach |
|
Abnormal pulmonary valve cusp morphology, Anorexia, Poor appetite, Lack of bowel sounds, Bloody d... |
ORPHA:100075 |
X-Linked Sideroblastic Anemia |
|
Pallor, Abnormality of iron homeostasis |
ORPHA:75563 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis, Intestinal malrotation |
OMIM:249210 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Postnatal growth retardation, Heart murmur, Multiple bladder diverticula, Atrial sep... |
ORPHA:2728 |
Leishmaniasis |
|
Anorexia, Skin ulcer, Weight loss, Hypoalbuminemia, Pallor |
ORPHA:507 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Diarrhea, Dilated cardiomyopathy, Erythema, Vomiting, Death in childhood, Left ventr... |
OMIM:618321 |
X-Linked Immunoneurologic Disorder |
|
Myopathy, Functional abnormality of the bladder |
ORPHA:2571 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Facial palsy, Cachexia, Urinary retention, Slender build |
ORPHA:1328 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Recurrent urinary tract infections, Anorexia, Diarrhea, Gastroesophageal ref... |
ORPHA:90045 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Short stature,... |
OMIM:616007 |
Sacral Defect With Anterior Meningocele |
|
Rectal abscess, Neurogenic bladder, Urinary retention |
OMIM:600145 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated circulating parathyroid hormone level, Pheochromocytoma, Pallor, Ganglioneuromatosis, El... |
ORPHA:653 |
Ileal Neuroendocrine Tumor |
|
Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intestinal obstruction, Episod... |
ORPHA:100078 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Abnormal cardiac ventricular function, Severe short stature, ... |
ORPHA:90349 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Small for gestational age, Anorexia, Malabsorption, Hepatic failure, Erythema, C... |
OMIM:557000 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Cleft ... |
ORPHA:107 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... |
ORPHA:2973 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... |
ORPHA:137675 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Pericarditis, Pallor |
ORPHA:163596 |
Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Unilateral renal agenesis, High palate, Failure to thrive, Hydronephrosis |
OMIM:609757 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Achalasia, Dysphagia |
OMIM:300858 |
Ohdo Syndrome, Sbbys Variant |
|
Hypothyroidism, Dilated cardiomyopathy, Hypospadias, Feeding difficulties |
OMIM:603736 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Renal insufficiency, Anorexia, Abdominal pain, Hyperammonemia, Feeding diffi... |
ORPHA:79312 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Proteinuria, Poor appetite, Weight loss, Vomiting, Pallor, Constipation, Failure to ... |
ORPHA:35858 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Death in infancy, Hypertriglyceridemia, Polyuria, Pericardial effusion, Elevated ci... |
OMIM:618183 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... |
OMIM:300952 |
Athabaskan Brainstem Dysgenesis Syndrome |
|
Central hypoventilation |
OMIM:601536 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Increased urinary glycerol, Reye syndrome-like episodes, Diarrhea, Vomiting, Hyperur... |
ORPHA:348 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Dextrocardia, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Obesi... |
OMIM:615994 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Multiple glomerular cysts, Cardiac conduction abnormality, Hepatic failure, Dilated cardiomyopath... |
ORPHA:255210 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Tachycardia, Congestive heart failure, Pallor |
ORPHA:90033 |
Desmoid Tumor |
|
Intestinal polyposis, Intestinal obstruction, Abnormality of the upper urinary tract, Malabsorpti... |
ORPHA:873 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Redundant skin, Hiatus hernia,... |
ORPHA:3342 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Short stature, Elevated circulating creatine kinase concentration, Feeding difficulties, Esophagi... |
OMIM:615356 |
Obesity Due To Sim1 Deficiency |
|
Short stature, Hyperinsulinemia, Obesity, Feeding difficulties, Hypotension, Postural hypotension... |
ORPHA:369873 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Evans Syndrome |
|
Pallor, Syncope, Epistaxis, Petechiae |
ORPHA:1959 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Small for gestational age, Patent ductus arteriosus,... |
OMIM:617021 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Hereditary Spherocytosis |
|
Abdominal pain, Abdominal distention, Skin ulcer, Growth delay, Pallor, Hyperbilirubinemia, Restr... |
ORPHA:822 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor, Failure to thrive, Mildly elevated creatine kinase |
ORPHA:536516 |
Tako-Tsubo Cardiomyopathy |
|
Vomiting, Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricula... |
ORPHA:66529 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Elevated circulating growth ho... |
ORPHA:97287 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Vomiting, Pallor, Male hypogonadi... |
ORPHA:91347 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Growth delay, Hypo... |
OMIM:615234 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Flexion contracture, Congenital pyloric atresia, Abn... |
ORPHA:158684 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Feeding difficulties, Renal ... |
OMIM:614922 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Aganglionic megacolon, Decreased heart rate variability, Feeding difficulties, Chronic constipati... |
OMIM:209880 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hydronephrosis, Hem... |
ORPHA:79403 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Dilated card... |
ORPHA:79408 |
Partial Atrioventricular Septal Defect |
|
Atrial flutter, Angina pectoris, Transient ischemic attack, Bicuspid aortic valve, Coronary sinus... |
ORPHA:1330 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Renal artery aneurysm, Portal hypertension, Elevated circulating C-reactive protein concentration... |
OMIM:615688 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Feeding difficulties, Reduced ... |
OMIM:620203 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Neonatal death, Anal atresia, Hy... |
OMIM:314390 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Anorexia, Malabsorption, Congestive ... |
ORPHA:33226 |
Vici Syndrome |
|
Failure to thrive, Left ventricular hypertrophy, Elevated circulating creatine kinase concentrati... |
OMIM:242840 |
Interstitial Cystitis |
|
Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ... |
ORPHA:37202 |
Primary Myelofibrosis |
|
Cachexia, Portal hypertension, Anorexia, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Elevated circulating... |
ORPHA:228305 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Melena, Increased serum iron, Increased total iron binding capacity, Hyperbilirubi... |
ORPHA:98870 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... |
OMIM:616307 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Cardiac conduction abnormality, Anorexia, Oral-pharyng... |
ORPHA:2131 |
Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the ureter, Tracheoesop... |
ORPHA:1834 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Elevated... |
OMIM:606812 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Cleft palate, High palate, Failure to thrive, Hydronephrosis, Limb hypertonia |
ORPHA:488613 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Dilated cardiomyopathy, Intestinal pseudo-obstruction, Gastroparesis |
ORPHA:70595 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Abdominal pain, Di... |
ORPHA:91547 |
Hydroxykynureninuria |
|
Tachycardia, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Hypotension, ... |
ORPHA:79155 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Redundant neck skin, Redundant skin, Unilateral renal agenesis, Postnatal g... |
ORPHA:90348 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Increased circulating ferritin concentration, Growth delay, Pallor, Delayed puberty, Hypopituitar... |
OMIM:600462 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Failure to thrive, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Pituitary Apoplexy |
|
Hyponatremia, Nausea and vomiting, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:95613 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Ventri... |
ORPHA:263297 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Bladder diverticulum, Redundant skin, Cutis laxa, Supravalvular aortic stenosis |
OMIM:219100 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Pallor, Nausea and vomiting, Weight loss |
ORPHA:3226 |
Trisomy 17P |
|
Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Urethral stenosis, Flexion contract... |
ORPHA:261290 |
Hyperekplexia 1 |
|
Aspiration, Apnea |
OMIM:149400 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Short stature, Pallor |
OMIM:615631 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Hypertriglyceridemia, Small for gestational age, Villous atrophy, Elevated ci... |
OMIM:619573 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Decreased circulating cortisol level, Elevated circulating creatine kinase conc... |
OMIM:618839 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Neonatal death, Atrioventric... |
OMIM:265380 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... |
OMIM:300048 |
Prolactinoma |
|
Nausea and vomiting, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating gro... |
ORPHA:2965 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Intestinal pseudo-obstruction, Gastroparesis, Dilated cardiomyopathy, Weight loss, Mitral valve p... |
OMIM:607459 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Small for gestational age, Gastroparesis, Hyperammonemia, Growth delay, Hypertension... |
OMIM:614052 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Redundant skin, Adrenal hypoplasia, Pyloric stenosis, Rectal prolapse, Cutis la... |
OMIM:613177 |
Diabetic Embryopathy |
|
Ureteral duplication, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the abdominal wall musculat... |
ORPHA:1926 |
Joubert Syndrome 37 |
|
Micropenis, High palate, Hydronephrosis, Obesity |
OMIM:619185 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney d... |
ORPHA:2461 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Feeding difficulties in infancy, Primary ... |
OMIM:239200 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis |
OMIM:619797 |
Irida Syndrome |
|
Decreased circulating copper concentration, Pallor, Abnormal intestine morphology |
ORPHA:209981 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... |
ORPHA:2473 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Growth delay, Cardiomyopa... |
OMIM:222300 |
Sweet Syndrome |
|
Elevated circulating C-reactive protein concentration, Dilated cardiomyopathy, Pyoderma gangrenos... |
ORPHA:3243 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Feeding difficulties in infancy, Rectal prolapse, Nephrocalcinosis, Early ... |
OMIM:194050 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Short stature, Ecto... |
OMIM:227650 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic acid... |
OMIM:251000 |
Meningococcal Meningitis |
|
Shock, Renal insufficiency, Projectile vomiting, Elevated circulating C-reactive protein concentr... |
ORPHA:33475 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Facial hypotonia, Narrow palate, Micropenis, Abnormality of muscle size, Slender build, Hydroneph... |
ORPHA:364028 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Large for gestational age, Flexion contracture, Dilatation of the rena... |
ORPHA:314588 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Short stature, Ecto... |
OMIM:600901 |
Recombinant Chromosome 8 Syndrome |
|
Joint contracture of the hand, Hydronephrosis, Camptodactyly |
OMIM:179613 |
Idiopathic Hypereosinophilic Syndrome |
|
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... |
ORPHA:3260 |
Plummer-Vinson Syndrome |
|
Poor appetite, Abdominal pain, Esophageal web, Pallor, Dysphagia, Decreased circulating ferritin ... |
ORPHA:54028 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... |
OMIM:606966 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Small for gestational age, Flexion contracture, Cleft palate, Micropenis, Hydronephr... |
OMIM:616897 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Death in infancy, Decreased circulating cortisol level, Elevated circulating creatine kinase conc... |
OMIM:618835 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Abdominal pain, Diarrhea, Erythema, Vomiting, Scaling skin, Hypotensi... |
ORPHA:79455 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myocardial fibrosis, ... |
OMIM:253800 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Hypotension, A... |
OMIM:615668 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Growth delay, Increased serum iron, Hypogonadism, A... |
ORPHA:300298 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T... |
ORPHA:228308 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Congenital diaphr... |
ORPHA:887 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
High palate, Hydronephrosis, Cleft palate |
OMIM:602418 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M... |
ORPHA:904 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Abdominal pain, Hemoglobinuria, Pallor, Unconjugated hyperbilirubinemia, Decreased glucose-6-phos... |
OMIM:300908 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Congenital diaphragmatic hernia, Bladde... |
OMIM:614080 |
Tetraploidy |
|
Hydronephrosis, Cleft palate, Renal hypoplasia/aplasia |
ORPHA:3305 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Small for gestational age, Megarectum, Vesicoureteral ... |
OMIM:301056 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Short stature, Ecto... |
OMIM:227646 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Fetal megacystis, Constipation, Intr... |
ORPHA:73246 |
Legionnaires Disease |
|
Hyponatremia, Nausea and vomiting, Renal insufficiency, Pericarditis, Proteinuria, Anorexia, Abdo... |
ORPHA:549 |
Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... |
OMIM:618612 |
Suleiman-El-Hattab Syndrome |
|
Failure to thrive, High palate, Hydronephrosis |
OMIM:618950 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... |
ORPHA:2842 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Aplasia/Hypoplasia of the tongue, Aplasia of the pectorali... |
ORPHA:1358 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Cardiomyopathy, Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:119 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, Feeding difficulties, Mitral regurgitation, Dy... |
ORPHA:261250 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, High, narrow palate, Renal hypoplasia, Cleft palate, Anteriorly placed... |
OMIM:618494 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Feeding difficulties in infancy, Renal cyst, Gastroesophageal reflux, Hypoth... |
ORPHA:1606 |
Mercury Poisoning |
|
Tachycardia, Anorexia, Episodic abdominal pain, Hypertension, Hypokalemia, Hypotension, Acute kid... |
ORPHA:330021 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Renal insufficiency, Recurrent urinary tract infections, Tachycardia, Glomerulonephritis, ... |
ORPHA:36234 |
Tetrasomy 15Q26 |
|
High palate, Hydronephrosis, Horseshoe kidney, Camptodactyly |
OMIM:614846 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... |
ORPHA:210122 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Tricuspid regurgitation, Hypospadias, Severe short stature, Epispadias... |
ORPHA:2556 |
Helix Syndrome |
|
Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Xerostomia,... |
OMIM:617671 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Multiple Osteochondromas |
|
Intestinal obstruction, Urinary retention |
ORPHA:321 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Late-Onset Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Anorexia, Hashimoto thyroiditis, Hypoparathyroidism, Hypona... |
ORPHA:199299 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Increased circulating androgen concentration, Bladder diverticulum, Palmoplant... |
ORPHA:2976 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
Childhood Absence Epilepsy |
|
Pallor, Urinary incontinence |
ORPHA:64280 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Tracheoesophageal fistula, Ureteral agenesis, Abnormality of... |
ORPHA:2437 |
Ritscher-Schinzel Syndrome 1 |
|
Anal atresia, Hypospadias, Hydronephrosis, Cleft palate |
OMIM:220210 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Hydronephrosis |
OMIM:620141 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration, Dilated cardi... |
OMIM:164310 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Gastroesophageal reflux, Pallor, Atrial se... |
OMIM:619488 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Malabsorption, Anteriorly placed anus, Failure to thrive, Hydro... |
ORPHA:2315 |
Trisomy 13 |
|
High, narrow palate, Abnormality of the ureter, Cleft palate, Multiple renal cysts, Displacement ... |
ORPHA:3378 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Hypoventilation, Breathing dysregulation |
OMIM:618232 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis, Cleft palate |
ORPHA:1727 |
Tarp Syndrome |
|
Failure to thrive, Horseshoe kidney, Cleft palate, Tongue nodules, Glossoptosis, High palate, Neo... |
OMIM:311900 |
Occipital Horn Syndrome |
|
Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decreased circulating... |
OMIM:304150 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Peptic ulcer, Abdominal pain, Diarrhea, Weight loss, Syncope, Pallor, Hypotension, N... |
ORPHA:98849 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Anal stenosis, Renal agenesis, Facial palsy, Aganglionic megacolon, Renal hypo... |
OMIM:607323 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Small Cell Carcinoma Of The Bladder |
|
Hematuria, Recurrent urinary tract infections, Dysuria |
ORPHA:284400 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Abno... |
ORPHA:391673 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Calcinosis, Angina pectoris, Tela... |
ORPHA:93672 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... |
OMIM:611489 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Ventricular septal ... |
OMIM:227645 |
Baller-Gerold Syndrome |
|
Failure to thrive in infancy, Malabsorption, Abnormality of the ureter, Abnormal localization of ... |
ORPHA:1225 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... |
ORPHA:49041 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Camptodactyly of finger, Congenital diaphragmatic hernia, Cleft pal... |
ORPHA:261344 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Obesity, Hyposthenuria, Vesicoureteral reflux, Hydronephrosis |
OMIM:615926 |
Neuroendocrine Neoplasm Of Appendix |
|
Anorexia, Poor appetite, Adenocarcinoma of the colon, Abdominal colic, Functional intestinal obst... |
ORPHA:100079 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Failure to thrive in infancy, Hemolytic-uremic syndrome, Cleft ... |
OMIM:611209 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Hydronephrosis, Weight loss |
ORPHA:449400 |
Congenital Myopathy 17 |
|
Failure to thrive in infancy, Renal hypoplasia, Cleft palate, Myopathy, Distal arthrogryposis, Hi... |
OMIM:618975 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Atrial septal defect, Ventricular septal defect, Proportionat... |
ORPHA:488618 |
Cat Eye Syndrome |
|
Atrial septal defect, Meckel diverticulum, Renal agenesis, Ventricular septal defect, Short statu... |
OMIM:115470 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiac arrest, Elevated circulating creatine kinase concentration, Cardiomegaly, Nephrotic syndr... |
OMIM:617713 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Short stature, Elevated circulating creatine kinase concentration, Growth delay,... |
OMIM:617675 |
Acquired Idiopathic Sideroblastic Anemia |
|
Congestive heart failure, Pallor |
ORPHA:75564 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Short stature, Primary adrenal insufficiency, Renal tubula... |
OMIM:530000 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Malabsorption, Pyloric stenosis, High palate, Failure ... |
ORPHA:912 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, He... |
ORPHA:99147 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... |
ORPHA:358 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Feeding difficulties in infancy, Aortic valve atresia, Aortopulmonary wind... |
ORPHA:2299 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Short stature, Abnormality of the kidney, Tricuspid stenosi... |
ORPHA:391641 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, Abdominal pain,... |
ORPHA:99828 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
OMIM:201750 |
Acro-Renal-Ocular Syndrome |
|
Renal malrotation, Aganglionic megacolon, Renal hypoplasia/aplasia, Postnatal growth retardation,... |
ORPHA:959 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Rectal polyposis, Adenomatous colo... |
ORPHA:329971 |
Scrub Typhus |
|
Nausea and vomiting, Renal insufficiency, Abdominal pain, Myocarditis, Hypotension |
ORPHA:83317 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria, Pallor, Increased circulating ferritin concentration |
OMIM:194380 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Congenital diaphragmatic hernia... |
ORPHA:2059 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hypophosphatemi... |
OMIM:276700 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Functional abnormality of the bladder, Malrotation of small bowel, Nephrol... |
ORPHA:2953 |
Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Tricuspid regurgitation, Patent ductus arteriosus, Cutis laxa, Feeding difficulties, Bladder dive... |
OMIM:614557 |
Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Vom... |
ORPHA:94093 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Pyloric stenosis, Obesity, Renal cyst, Mac... |
ORPHA:261494 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Reduced haptoglobin level, Pallor, Unconjugated hyperbilirubinemia |
OMIM:266200 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, High, narrow palate, Pyloric stenosis, Cleft palate, Narrow pa... |
ORPHA:96169 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor, Feeding difficulties |
OMIM:613839 |
Kcnq2-Related Epileptic Encephalopathy |
|
Feeding difficulties, Pallor, Facial erythema |
ORPHA:439218 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy... |
OMIM:615745 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Camptodactyly of finger, Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
Zaki Syndrome |
|
High palate, Renal agenesis, Hydronephrosis, Congenital diaphragmatic hernia |
OMIM:619648 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:613550 |
Tay-Sachs Disease |
|
Aspiration |
OMIM:272800 |
Netherton Syndrome |
|
Aminoaciduria, Malabsorption, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Cleft palate, Myopathy, Stil... |
OMIM:243605 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Vomiting, Premature adrenarche, Hyponat... |
ORPHA:90794 |
Syndromic Diarrhea |
|
Villous atrophy, Bicuspid aortic valve, Bloody diarrhea, Colitis, Hypoplasia of the thymus, Hepat... |
ORPHA:84064 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Intestinal malrotation, High, narrow palate, Cleft palate, Ecto... |
ORPHA:7 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Anemic pallor, Abnormal circulating albumin concentra... |
ORPHA:86839 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia, Obesity |
OMIM:615989 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Heart block, Raynaud phenomenon, Arteri... |
ORPHA:416 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Small for gestational age, Rectovaginal fistula, Vesicour... |
OMIM:300707 |
Perry Syndrome |
|
Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency |
OMIM:168605 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Hydronephrosis, Protruding tongue |
OMIM:619179 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Mala... |
ORPHA:3463 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute kidney i... |
ORPHA:79233 |
Meacham Syndrome |
|
Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... |
OMIM:608978 |
Autosomal Dominant Hypocalcemia |
|
Abdominal pain, Congestive heart failure, Hypercalciuria, Dry skin, Nephrocalcinosis, Hyperphosph... |
ORPHA:428 |
Kury-Isidor Syndrome |
|
High palate, Hydronephrosis |
OMIM:619762 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Small for gestational age, Pyloric stenosis, Hypotrophy of th... |
OMIM:610443 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... |
ORPHA:91354 |
Pfeiffer Syndrome Type 3 |
|
Intestinal malrotation, Cleft palate, Horseshoe kidney, High palate, Vesicoureteral reflux, Hydro... |
ORPHA:93260 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hypocalcemia, Death in childhood, Atrial septal defect, Micropenis... |
OMIM:243800 |
Mesomelia-Synostoses Syndrome |
|
Aplasia/Hypoplasia of the uvula, High, narrow palate, Hydronephrosis |
ORPHA:2496 |
Ketamine-Induced Biliary Dilatation |
|
Dysuria |
ORPHA:293807 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Renal salt wasting, Vomiting, Hyponatremia, Abdominal pain, Hypovolemia, D... |
ORPHA:275761 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Rectal fistula, Fetal pyelectasis, Bilateral renal hypoplasi... |
ORPHA:49 |
Al-Gazali Syndrome |
|
Failure to thrive, Wrist flexion contracture, Hydronephrosis |
OMIM:609465 |
Postpoliomyelitis Syndrome |
|
Hypoventilation, Respiratory insufficiency |
ORPHA:2942 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Intestinal pseudo-o... |
ORPHA:273 |
Developmental And Epileptic Encephalopathy 38 |
|
Aspiration |
OMIM:617020 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Scapular winging, Hydroureter, Interphalangeal joint contracture of fing... |
OMIM:305620 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor, Dysphagia |
ORPHA:13 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Short stature, Congestive heart failure, Renal hyp... |
OMIM:105650 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... |
ORPHA:99125 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Ecto... |
OMIM:607872 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
High, narrow palate, High palate, Camptodactyly, Micropenis, Joint contracture of the hand, Hydro... |
OMIM:612513 |
46,Xy Sex Reversal 4 |
|
Cleft palate, Hydronephrosis, High palate, Ureteropelvic junction obstruction, Renal dysplasia, A... |
OMIM:154230 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Microglossia, Renal hy... |
OMIM:146510 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Congenital diaphragmatic hernia, Renal hypoplasia, Horseshoe kidney, Neonatal ... |
OMIM:601186 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic left heart, Atrial septa... |
ORPHA:2248 |
Amyotrophic Lateral Sclerosis 21 |
|
Respiratory insufficiency due to muscle weakness, Aspiration |
OMIM:606070 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Skeletal muscle atrophy, Dysuria, Upper limb muscle weakness, Distal amyotrophy, Hydronephrosis |
ORPHA:101000 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Neurogenic bladder, Protruding tongue, Failure to thrive, Hydronephrosis |
OMIM:608779 |
Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Diamond-Blackfan Anemia |
|
Renal agenesis, Hypospadias, Ventricular septal defect, Short stature, Small for gestational age,... |
ORPHA:124 |
9Q21.13 Microdeletion Syndrome |
|
Abnormal tongue morphology, Hydronephrosis |
ORPHA:531151 |
Carpenter Syndrome 1 |
|
Hydroureter, Obesity, High palate, Camptodactyly, Joint contracture of the hand, Hydronephrosis |
OMIM:201000 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture, Bladder diverticulum, Ex... |
OMIM:225400 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Rectal prolapse, Horseshoe kidney, Narrow palate, Protein-losing enteropathy, Cam... |
OMIM:235510 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Abnormality of the ureter, Abnor... |
ORPHA:261318 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Intestinal malrotation, Epispadias, Ve... |
OMIM:258040 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Protruding tongue, High, narrow palate, Macroglossia, Albuminuria, Aminoaciduria, Hi... |
OMIM:214100 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cleft palate, Furrowed tongue, Macroglossia, Bifid uvula, High palate, Vesicoureteral reflux, Fai... |
ORPHA:453499 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema... |
OMIM:263200 |
Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Hiatus hernia, Rectal prolapse, Arterial rupture, Mitral valve prolapse,... |
ORPHA:287 |
Hardikar Syndrome |
|
Vomiting, Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Bladder exstrophy, S... |
OMIM:301068 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Anorexia, Abdominal pain, Bowel incontinence, Xerostomia, Hypertens... |
ORPHA:178478 |
Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis, Large for gestational age |
OMIM:610733 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Failure to thrive, Small for gestational age, Hydronephrosis |
OMIM:617093 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Feeding difficulties in infancy,... |
ORPHA:565 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Myocardial infarction, Cachexia, Anorexi... |
ORPHA:3452 |
Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Abnormal circulating protein concentration, Membranoproliferative glomerulon... |
ORPHA:48435 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Apnea, Hyperventilation |
OMIM:229700 |
Arima Syndrome |
|
Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria, Hypertension,... |
OMIM:243910 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Cleft palate, Furrowed tongue, High palate, Hydronephrosis |
OMIM:616449 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Camptodactyly of finger, Facial palsy, High palate, Failure to thri... |
ORPHA:261349 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Failure to thrive, Hypospadias, Small for gestational age, Unilate... |
ORPHA:464311 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Short stature, Subdural hemorrhage, Art... |
ORPHA:536545 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Cong... |
ORPHA:2322 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... |
ORPHA:223 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Hydronephrosis, Limb hypertonia |
OMIM:620327 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Cardiac-Urogenital Syndrome |
|
Tachycardia, Penoscrotal hypospadias, Cor triatrium sinister, Ventricular septal defect, Coronary... |
OMIM:618280 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Aspiration |
ORPHA:600 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Cleft palate, High palate, Vesicoureteral reflux, Arthrogryposis multipl... |
ORPHA:96061 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Intestinal malrotation, Portal hypertension, Situs inversus totalis, Patent ... |
OMIM:208540 |
Fryns Syndrome |
|
Ureteral duplication, Meckel diverticulum, Renal agenesis, Hypospadias, Aganglionic megacolon, In... |
OMIM:229850 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Joint contracture, Fai... |
OMIM:618460 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Flexion contracture, Macroglossia, Camptodactyly, Flexion contracture of finger,... |
ORPHA:254528 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Camptodactyly of finger, Intestinal malrotation, Horseshoe ... |
ORPHA:99776 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... |
OMIM:233450 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Branchio-Oculo-Facial Syndrome |
|
High palate, Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Intestinal malrotation, Hydronephrosis, Cleft palate |
ORPHA:457193 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... |
ORPHA:449395 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... |
ORPHA:97214 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Failure to thrive, Pallor, Protracted diarrhea |
ORPHA:331206 |
Isolated Congenital Alacrima |
|
Achalasia |
ORPHA:91416 |
Alström Syndrome |
|
Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, Dysuria, ... |
ORPHA:64 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Failure to thrive, Multiple joint contractures, Hypospadias, Small for gestational age, Unilatera... |
ORPHA:464306 |
15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ureterovesical stenosis, Hig... |
ORPHA:314585 |
Micro Syndrome |
|
Hypoplasia of penis, High palate, Hydronephrosis, Abnormal localization of kidney |
ORPHA:2510 |
Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia, Tracheoesophageal fistula, Rectovaginal fistula, Hydronephrosis,... |
ORPHA:1780 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Hypoplastic tricuspid valve, Diabetes mellitus, Double outlet left ventricl... |
OMIM:600001 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... |
OMIM:614527 |
Intellectual Disability, Buenos-Aires Type |
|
High palate, Hydronephrosis |
ORPHA:3079 |
1Q21.1 Microdeletion Syndrome |
|
High palate, Vesicoureteral reflux, Failure to thrive, Ankyloglossia, Hydronephrosis |
ORPHA:250989 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... |
ORPHA:1457 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, Hydronephrosis |
ORPHA:568 |
Congenital Enterovirus Infection |
|
Pericardial effusion, Myocarditis, Hyperammonemia, Cardiomyopathy, Hypoalbuminemia, Hypotension, ... |
ORPHA:292 |
Zttk Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Polyuria, Unilateral renal agenesis, Short statu... |
OMIM:617140 |
Distal Deletion 12Q |
|
Failure to thrive in infancy, Ectopic kidney, High, narrow palate, Esophageal atresia, Pyloric st... |
ORPHA:96149 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Scaling skin, Hypo... |
ORPHA:79456 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Atrial septal defect, Hypopla... |
ORPHA:2255 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Polyuria, Facial wrinkl... |
OMIM:606721 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Bladder diverticulum |
OMIM:617821 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Small for gestational age, Vomiting, Patent urachus, Death in childhood, Failure to... |
OMIM:618252 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Flexion contracture, High palate, Hydronephrosis |
ORPHA:35173 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Cleft palate, Hydronephrosis, Polycystic kidney d... |
ORPHA:2237 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... |
ORPHA:99827 |
Nipah Virus Disease |
|
Nausea and vomiting, Hypotension, Anorexia |
ORPHA:99825 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anal stenosis, Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Proxi... |
ORPHA:280633 |
Hellp Syndrome |
|
Proteinuria, Cerebral hemorrhage, Nausea, Abdominal pain, Increased body weight, Hemoglobinuria, ... |
ORPHA:244242 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, High, narrow palate, Contractures of the large joints, Abnormality of ... |
ORPHA:96092 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Rectovaginal fistula, Polycystic kidney dysplasia, Vesicovagi... |
OMIM:236700 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Esophageal atresia, Tracheoesophage... |
OMIM:192350 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Bowel incontinence, Pollakisuria, Hypertension, Hypotension, Dysphagia, Urinary bladder sphincter... |
ORPHA:93256 |
Pde4D Haploinsufficiency Syndrome |
|
Hypospadias, Postnatal growth retardation, Obesity, Elevated circulating parathyroid hormone leve... |
ORPHA:439822 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Perianal abscess, Urachus fistula, Cleft palate, Myopathy, Hi... |
OMIM:612541 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, High palate, Renal artery stenosis... |
OMIM:617913 |
Letterer-Siwe Disease |
|
Stomatitis, Abdominal distention, Pallor |
OMIM:246400 |
Serotonin Syndrome |
|
Tachycardia, Diarrhea, Hypertension, Hypotension, Hepatic failure, Acute kidney injury, Nausea |
ORPHA:43116 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Knee flexion contracture, Arthrogryposis multiplex... |
ORPHA:85201 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Anorexia, Portal hypertension, Abdominal pain, Malabsorption, Diarrh... |
ORPHA:98850 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Obesity, Anteriorly placed anus, High palate, Vesicoureteral reflux, Micropenis, Pelvic kidney, H... |
OMIM:618653 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension, Failure to thrive, Elevated ci... |
OMIM:263400 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Microglossia, Hydronephrosis, Cleft palate |
ORPHA:2839 |
Trisomy 18 |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of the upper urinary tract,... |
ORPHA:3380 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cleft palate, Protein-losing enteropathy, High palate, Micropenis, Hydronephrosis |
OMIM:235255 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Absence of Stensen duct, Xerostomia, C... |
OMIM:129900 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, Anteriorly placed anus, Hydronephrosis, High palate, Bifid uvula |
ORPHA:247262 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... |
ORPHA:258 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Aganglionic megacolon, Abnormality of th... |
ORPHA:847 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Vent... |
OMIM:270100 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Camptodactyly of finger, Horseshoe kidney, Duplication... |
DECIPHER:81 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Stridor, Hypoventilation, Apnea |
OMIM:617143 |
Otopalatodigital Syndrome Type 2 |
|
Hypospadias, Camptodactyly of finger, Ureteral obstruction, Cleft palate, Glossoptosis, Failure t... |
ORPHA:90652 |
Au-Kline Syndrome |
|
Failure to thrive, Chronic kidney disease, Dilatation of the renal pelvis, Cleft palate, Bifid uv... |
OMIM:616580 |
Gm2-Gangliosidosis, Ab Variant |
|
Aspiration |
OMIM:272750 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis, Camptodactyly |
OMIM:616737 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Congenital diaphragmatic hernia, Renal hypoplasia, Renal cyst, Cleft palate, Microphallus, Vesico... |
OMIM:618454 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Bloody diarrhea, Hypoa... |
ORPHA:99826 |
Pure Autonomic Failure |
|
Dysuria, Urinary incontinence |
ORPHA:441 |
Malakoplakia |
|
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Neoplasm of the r... |
ORPHA:556 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Micropenis, Hydronephrosis, Duodenal atresia |
OMIM:617798 |
Meacham Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus,... |
ORPHA:3097 |
Frontometaphyseal Dysplasia |
|
Interphalangeal joint contracture of finger, Hypoplasia of the musculature, Ureteral obstruction,... |
ORPHA:1826 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Stridor, Aspiration, Neonatal respiratory distress, Apnea |
OMIM:614653 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Acute Radiation Syndrome |
|
Diarrhea, Skin ulcer, Telangiectasia, Vomiting, Scaling skin, Hypotension |
ORPHA:454831 |
Spinocerebellar Ataxia Type 8 |
|
Aspiration |
ORPHA:98760 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, High, narrow palate, Cleft palate, Furrowed tongue, Male urethral meatus stenosis, H... |
ORPHA:464738 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Cleft palate, High palate, Ureteropelvic junction obstruction, Failure to thr... |
OMIM:616973 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Aspiration, Neonatal respiratory distress |
OMIM:618922 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Diastasis recti, Congenital diaphragmatic hernia, Renal hypoplasia/... |
ORPHA:2092 |
Joubert Syndrome 17 |
|
Hyperventilation |
OMIM:614615 |
Erdheim-Chester Disease |
|
Hydronephrosis, Renal insufficiency, Dysuria, Weight loss |
ORPHA:35687 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Protruding tongue, Macroglossia, Micropenis, Hydronephrosis |
OMIM:301040 |
Raine Syndrome |
|
Hydroureter, Protruding tongue, Cleft palate, High palate, Neonatal death, Arthrogryposis multipl... |
OMIM:259775 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, High, narrow palate, Horseshoe kidney, Cleft palate, Camptodactyly, Hydronephr... |
OMIM:272950 |
Opitz Gbbb Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Cleft palate, Abnormalit... |
ORPHA:2745 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Unilateral renal agenesis, Obesity, Enuresis, High ... |
ORPHA:96121 |
Teratoma, Pineal |
|
Polyuria |
OMIM:273120 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Hydronephrosis, Esophagitis |
ORPHA:541423 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal renal morphology, Protein-losing enteropathy, High palate, Micropenis, Hydronephrosis |
ORPHA:1655 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Patent ... |
ORPHA:3427 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Renal dysplasia, Cleft palate, Bifid uvula, Hydronephrosis, Anal atresia |
OMIM:300968 |
Hennekam-Beemer Syndrome |
|
Short stature, Telangiectasia of the skin, Abdominal pain, Erythema, Vomiting, Hypotension, Skin ... |
ORPHA:2135 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Failure to thrive, Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Failure to thrive, Hydronephrosis |
OMIM:302960 |
Gabriele-De Vries Syndrome |
|
Facial hypotonia, Distal arthrogryposis, High palate, Ureteropelvic junction obstruction, Hydrone... |
OMIM:617557 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Ureteropelvic junction obstruction, Failure to thrive, Hydronephrosis, Li... |
ORPHA:444072 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
Tarp Syndrome |
|
Failure to thrive, Cleft palate, Horseshoe kidney, Glossoptosis, Abnormal duodenum morphology, To... |
ORPHA:2886 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, High palate, Hydronephrosis |
OMIM:104350 |
Pontine Tegmental Cap Dysplasia |
|
Aspiration |
OMIM:614688 |
Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Gastroparesis, Hiatus hernia, Bladder diverticulum, Gastroeso... |
ORPHA:198 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti... |
ORPHA:199296 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Torticollis, Villous atrophy, Ureteral hypoplasia, Hypoplasia of the m... |
ORPHA:79328 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Aspiration |
ORPHA:2148 |
Cardiofaciocutaneous Syndrome 1 |
|
Failure to thrive, Submucous cleft hard palate, High palate, Hydronephrosis |
OMIM:115150 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Hyperventilation |
OMIM:617903 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Growth delay, Hypocalcemia, Pallor, Hypophosphatemia, Pulmon... |
ORPHA:667 |
Cousin Syndrome |
|
Cleft palate, Camptodactyly, Microglossia, Joint contracture of the hand, Wrist flexion contractu... |
OMIM:260660 |
White-Kernohan Syndrome |
|
Hydroureter, Obesity, Horseshoe kidney, Anteriorly placed anus, Rectovaginal fistula, Hydronephrosis |
OMIM:619426 |
Cardiofaciocutaneous Syndrome |
|
Submucous cleft hard palate, High palate, Hydronephrosis, Failure to thrive in infancy |
ORPHA:1340 |
Incontinentia Pigmenti |
|
Pallor, Erythema, Short stature, Retinal hemorrhage |
OMIM:308300 |
Encephalocraniocutaneous Lipomatosis |
|
Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Diabetic ketoacidosis, Vasculitis, Hypotension |
ORPHA:70578 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Pollakisuria, Proximal muscle weakness... |
ORPHA:268 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, High, narrow palate, Type 1 musc... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, High, narrow palate, Type 1 musc... |
ORPHA:352665 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Eec Syndrome |
|
Hypospadias, Renal hypoplasia/aplasia, Xerostomia, Cleft palate, Urethral atresia, Vesicoureteral... |
ORPHA:1896 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Cleft palate, Stillbirth, Failure to thrive, Hydronephrosis |
OMIM:309350 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Patent ductus arteriosus, Bicuspid aortic valve, Abnormal left ventricular ... |
OMIM:132900 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morpholo... |
ORPHA:286 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor, Decreased serum iron |
OMIM:616959 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis, Anal atresia |
OMIM:271520 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Trisomy 8P |
|
Multiple joint contractures, Fetal pyelectasis, Malrotation of small bowel, Cleft palate, Nephroc... |
ORPHA:264450 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Stillbirth, Flexion contracture, Hydronephrosis, Unilateral renal agenesis |
OMIM:308050 |
Dubowitz Syndrome |
|
Anal stenosis, Hypospadias, Malabsorption, Rectal prolapse, Submucous cleft hard palate, High pal... |
ORPHA:235 |
Apert Syndrome |
|
Esophageal atresia, Pyloric stenosis, Narrow palate, Cleft palate, Hydronephrosis, Ectopic anus, ... |
OMIM:101200 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Macroglossia, Micropenis, Failure to thrive, Hydrone... |
OMIM:269150 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... |
OMIM:270400 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Intestinal obstruction, Weig... |
ORPHA:900 |
Campomelic Dysplasia |
|
Hydronephrosis, Cleft palate |
ORPHA:140 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Hypotension, Inc... |
ORPHA:36238 |
Familial Aortic Dissection |
|
Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis, Obesity |
OMIM:619269 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Congenital... |
ORPHA:818 |
Leptospirosis |
|
Nausea and vomiting, Pericarditis, First degree atrioventricular block, Anorexia, Cellular urinar... |
ORPHA:509 |
Halperin-Birk Syndrome |
|
Aspiration |
OMIM:618651 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Recurrent urinary tract infections, Rhabdomyosarcoma, Cleft palate, Hydronephrosis... |
OMIM:251260 |
Schinzel-Giedion Syndrome |
|
Hypospadias, Aganglionic megacolon, Failure to thrive in infancy, Abnormality of the ureter, Neph... |
ORPHA:798 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Nephrocalcinosis, Macroglossia, Micropenis, Bifid tongue, Hydronephrosis, Absent... |
OMIM:268310 |
Rett Syndrome, Congenital Variant |
|
Aspiration |
OMIM:613454 |
Holoprosencephaly 3 |
|
Bifid uvula, Hydronephrosis, Cleft palate |
OMIM:142945 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Large for gestational age, Cleft palate, Camptodactyly, Contracture... |
OMIM:280000 |
Poliomyelitis |
|
Anorexia, Paralytic ileus, Hypertension, Hypovolemic shock, Vomiting, Hypotension, Dysphagia, Nausea |
ORPHA:2912 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Recurrent urinary tract infections, Hypospadias, Small for gestational age, ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Recurrent urinary tract infections, Hypospadias, Small for gestational age, ... |
ORPHA:363958 |
Osteopetrosis With Renal Tubular Acidosis |
|
Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, High palate, Distal ren... |
ORPHA:2785 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Alexander Disease |
|
Nausea and vomiting, Diabetes mellitus, Sudden cardiac death, Bowel incontinence, Precocious pube... |
ORPHA:58 |
Choreoacanthocytosis |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Dysphagia, Weight loss |
ORPHA:2388 |
Urachal Cyst |
|
Hematuria, Urachus fistula, Dysuria, Pyuria |
ORPHA:488 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hamartoma of tongue, Cleft palate... |
ORPHA:2750 |
Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Malabsorption, Abnormality of the urethra, Intestinal perforation, ... |
ORPHA:537 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Small for gestational age, Celiac disease, Dilatation of the renal p... |
ORPHA:2044 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Camptodactyly of finger, Ectopic anus, Bifid t... |
ORPHA:1507 |
Opitz Gbbb Syndrome |
|
Aspiration |
OMIM:300000 |
Secondary Syringomyelia |
|
Facial paralysis, Dysuria |
ORPHA:99857 |
Inhalational Anthrax |
|
Vomiting, Internal hemorrhage, Hypotension |
ORPHA:247257 |
3Mc Syndrome 1 |
|
Diastasis recti, Hydronephrosis, Cleft palate |
OMIM:257920 |
Craniofacioskeletal Syndrome |
|
Hypospadias, Hydronephrosis, Cleft palate |
OMIM:300712 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Diastasis recti, Intestinal malrotation, Hiatus hernia, Cleft palate, Nephrotic syndrome, Distal ... |
OMIM:601776 |
Gabriele-De Vries Syndrome |
|
Distal lower limb amyotrophy, Facial hypotonia, Small for gestational age, Esophageal atresia, Di... |
ORPHA:506358 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Unilateral renal agenesis, Flexion contracture, Camptodactyly, Hydronephrosis |
ORPHA:487796 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Small for gestational age, Webbed penis, Micropenis, Bifid tongue, ... |
ORPHA:97360 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Pyloric stenosis, Abnormality of the anus, ... |
ORPHA:2308 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... |
OMIM:619522 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Nephrolithiasis, Narrow ... |
ORPHA:353281 |
Pitt-Hopkins-Like Syndrome 2 |
|
Hyperventilation |
OMIM:614325 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Micropenis, Hypospadias, Hydronephrosis, Cleft palate |
ORPHA:163979 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
Stevens-Johnson Syndrome |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Esophageal stricture, Weight loss |
ORPHA:36426 |
Monosomy 22Q13.3 |
|
Obesity, Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia |
ORPHA:48652 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Hypotension |
OMIM:608643 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Diarrhea, Hyperammonemia, Hepatocellular necrosis, Intracrani... |
ORPHA:90062 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Hyperventilation |
ORPHA:420492 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... |
ORPHA:90695 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, S... |
ORPHA:289176 |
Joubert Syndrome 8 |
|
Hyperventilation |
OMIM:612291 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Aspiration |
ORPHA:96182 |
Immunodeficiency 58 |
|
Failure to thrive, Colitis, Dysuria, Esophagitis |
OMIM:618131 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
Campomelic Dysplasia |
|
Hypospadias, Contracture of the distal interphalangeal joint of the fingers, Submucous cleft hard... |
OMIM:114290 |
Rubinstein-Taybi Syndrome 1 |
|
Hypospadias, Small for gestational age, High, narrow palate, Flexion contracture, Cleft palate, N... |
OMIM:180849 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Urinary incontinence, Intestinal malrotation, Cl... |
ORPHA:2729 |
Adnp Syndrome |
|
Respiratory distress, Aspiration |
ORPHA:404448 |
Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Intestinal malrotation, Upper limb amyotrophy, Cleft palate, ... |
OMIM:616268 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Pyloric stenosis, Cleft palate, M... |
ORPHA:83617 |
Developmental And Epileptic Encephalopathy 100 |
|
Aspiration |
OMIM:619777 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperventilation |
OMIM:253270 |
Hereditary Angioedema Type 1 |
|
Intestinal edema, Abdominal pain, Diarrhea, Vomiting, Hypotension, Dysphagia, Nausea |
ORPHA:100050 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Myositis, Horseshoe kidney, Cleft palate, Bi... |
ORPHA:3310 |
Chime Syndrome |
|
Hydronephrosis, Abnormality of the kidney, Cleft palate |
ORPHA:3474 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Pyloric stenosis, Bifid ureter, Hydronephrosis, Renal duplication |
OMIM:267750 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Intestinal malrotation, Congenital diaphragmatic hernia, Ectopic kidney... |
OMIM:135900 |
Charge Syndrome |
|
Facial palsy, Abnormal soft palate morphology, Tracheoesophageal fistula, Horseshoe kidney, Cleft... |
ORPHA:138 |
Bilateral Perisylvian Polymicrogyria |
|
Aspiration, Apnea |
ORPHA:98889 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Hypospadias, Facial hypotonia, Congenital diaphragmatic hernia,... |
OMIM:312870 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Intestinal malrotatio... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Intestinal malrotatio... |
ORPHA:353277 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Muscular dystrophy |
OMIM:615287 |
Ogden Syndrome |
|
Aspiration, Apnea, Pulmonary arterial hypertension, Restrictive ventilatory defect |
OMIM:300855 |
Plague |
|
Tachycardia, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis, Endocarditis, Skin u... |
ORPHA:707 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Cleft palate, Stillbirth, Agenesis of the diaphragm, Hydronephrosis |
OMIM:236680 |
Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Anal stenosis, Intestinal malrotation, Malabsorption, Cleft palate, ... |
OMIM:147920 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Submucous cleft h... |
ORPHA:2636 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Diastasis recti, Congenital diaphragmatic hernia, Intestinal malrotation, H... |
OMIM:305600 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Failure to thrive, Hypospadias, Camptodactyly of finger, Subm... |
ORPHA:3455 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Narrow palate, Macroglossia, High palate, Micropenis, Bifid tongue, Short hard palate, Hydronephr... |
OMIM:180700 |
Floating-Harbor Syndrome |
|
Hypospadias, Celiac disease, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethr... |
OMIM:136140 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydroureter, Aganglionic megacolon, Camptodactyly of finger, Abnormality of the kidney, Abnormali... |
ORPHA:2273 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis, Absent uvula |
OMIM:600383 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Esophageal atresia, Renal hypoplasia, Renal cyst, Ec... |
ORPHA:93271 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Intestinal fistula, Hypospadias, Renal hypopl... |
ORPHA:709 |
Lacrimoauriculodentodigital Syndrome |
|
Xerostomia, Renal hypoplasia, Bifid uvula, Vesicoureteral reflux, Abnormal salivary gland morphol... |
ORPHA:2363 |
Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor, Elevated circulating creatine kinase concentration |
OMIM:253280 |
Digeorge Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, High, narrow palate, Obesity, Cleft palate, Hydro... |
OMIM:188400 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Anal stenosis, Malrotation of small bowel, Knee fl... |
OMIM:606170 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Recurrent urinary tract infections, Hypospadias, Aminoaciduria, Protein-losing... |
OMIM:619991 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Aganglionic m... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Urinary incontinence, Cleft hard palate, Flexion contracture, Vesicoureteral reflux, Webbed penis... |
ORPHA:2152 |
Heart Block, Congenital |
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Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... |
OMIM:234700 |
Sotos Syndrome |
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Ureteral duplication, Renal insufficiency, Hip contracture, Hypospadias, Abnormality of the kidne... |
ORPHA:821 |
Pudendal Neuralgia |
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Pollakisuria, Anal canal adenocarcinoma, Dysuria |
ORPHA:60039 |
Peters-Plus Syndrome |
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Ureteral duplication, Hypospadias, Diastasis recti, Renal hypoplasia, Cleft palate, Anteriorly pl... |
OMIM:261540 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Dark urine, Renal insufficiency, Failure to thrive, Dilatation of the renal pelvis, Stage 5 chron... |
OMIM:619534 |
Doors Syndrome |
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Increased urine alpha-ketoglutarate concentration, Cleft palate, Narrow palate, Nephrocalcinosis,... |
ORPHA:79500 |
Viss Syndrome |
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Chronic gastritis, Failure to thrive, Duodenitis, Intestinal malrotation, Cleft soft palate, Subm... |
OMIM:619472 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Aganglionic m... |
ORPHA:261552 |
Charge Syndrome |
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Anal stenosis, Renal agenesis, Facial palsy, Esophageal atresia, Renal hypoplasia, Horseshoe kidn... |
OMIM:214800 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... |
ORPHA:95494 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Abnormal renal morphology, High palate, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:363700 |
Otopalatodigital Syndrome, Type Ii |
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Hypospadias, Elbow contracture, Cleft palate, Stillbirth, Hydronephrosis |
OMIM:304120 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Neonatal respiratory distress, Aspiration, Asthma, Apnea |
OMIM:619503 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis |
ORPHA:438213 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Bifid uvula, High palate, Hydronephrosis |
OMIM:620330 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Renal dysplasia, Cleft palate, High palate, Hydronephrosis, Anal atresia |
ORPHA:480880 |
Osteogenesis Imperfecta, Type Vii |
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Hydronephrosis |
OMIM:610682 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Abnormal penis morphology, Dysuria, Intestinal perforation, Xerostomia, Renal tubular epithelial ... |
ORPHA:95455 |
Acromegaly |
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Dysuria, Macroglossia, Wide penis, Long penis |
ORPHA:963 |
Somatomammotropinoma |
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Macroglossia, Dysuria |
ORPHA:314769 |