Urofacial Syndrome 2 |
|
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... |
OMIM:615112 |
Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Elevated ser... |
ORPHA:556037 |
Cardiomyopathy, Dilated, 1L |
|
Sudden cardiac death, Elevated circulating creatine kinase concentration, Increased left ventricu... |
OMIM:606685 |
Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Vomiting, Increased circulating renin... |
OMIM:203400 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Decreased circulating aldosterone level, Feeding difficulties, Orthostatic hyp... |
ORPHA:556030 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Hyper... |
OMIM:618719 |
Mungan Syndrome |
|
Tricuspid regurgitation, Barrett esophagus, Abdominal pain, Pulmonic stenosis, Hypoperistalsis, R... |
OMIM:611376 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Failure to thrive, Hyperalaninemia, Hypertrophic cardiomyopathy, Stage 5 chronic kidney disease, ... |
OMIM:618250 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Dilated cardiomyop... |
OMIM:604765 |
Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy, Death in middle age, Increased left ventricular end-diastolic volume, Con... |
OMIM:613286 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Increased ci... |
OMIM:610600 |
Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... |
OMIM:611880 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... |
OMIM:607482 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612925 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... |
ORPHA:976 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Nephrogenic diabetes insipidus, Constipation, Short stature, Polyuria, Vomitin... |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Constipation, Short stature, Polyuria, Vomiting, Hypernatremia, Feeding diffic... |
OMIM:304800 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Decreased body weight, Gastroesophageal reflux, Short stature, Dilated cardiomyopathy, Intrauteri... |
OMIM:618097 |
Familial Hypoaldosteronism |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Feeding diffic... |
ORPHA:427 |
Adrenomyodystrophy |
|
Failure to thrive, Abnormality of the urinary system, Myopathy, Abnormal intestine morphology, Me... |
ORPHA:977 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612922 |
Posterior Urethral Valve |
|
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... |
ORPHA:93110 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612926 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Nephrolithiasis, Abdominal distention, Recurrent urinary tract infections, Hypoperistalsis, Fetal... |
OMIM:619365 |
Cardiomyopathy, Dilated, 3B |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Increased circulating cr... |
OMIM:302045 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperactive renin-angiotensin system, Failure to thrive, Feeding difficulties, Diarrhea, Vomiting... |
OMIM:177735 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Pulmonic stenosis, Vomiting, Dicarboxylic acidu... |
ORPHA:79159 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Decreased glomerular filtration rate, Diarrhea, Hematuria, Vomiting, Elevated circulating... |
ORPHA:340 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Neoplasm of the heart, Abdominal distention, Intestinal malrotation, Hydroureter, Multicystic kid... |
ORPHA:2241 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Abdominal distention, Peritonitis, Elevated pulmonary artery pressure, Ileal atresia, Renal corti... |
OMIM:619351 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... |
OMIM:613172 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
Gitelman Syndrome |
|
Failure to thrive, Hypomagnesemia, Hypokalemia, Constipation, Abdominal pain, Polyuria, Hypocalci... |
OMIM:263800 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... |
OMIM:605362 |
Cardiomyopathy, Dilated, 1W |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613122 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hy... |
OMIM:601198 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Diarrhea, Elevated circulating creatinine concentr... |
OMIM:235400 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Cardiomyopathy, Dilated, 1X |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Increased left ventri... |
OMIM:611615 |
Acute Adrenal Insufficiency |
|
Constipation, Decreased circulating cortisol level, Orthostatic hypotension, Diarrhea, Increased ... |
ORPHA:95409 |
Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613881 |
Cardiomyopathy, Dilated, 1Ee |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613252 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Neonatal death, Hydronephrosis, Fetal megacystis, Microcolon, Megacystis |
OMIM:619362 |
Renal Tubular Dysgenesis |
|
Anuria, Abnormality of the urinary system, Renotubular dysgenesis, Hypotension |
OMIM:267430 |
Infection-Related Hemolytic Uremic Syndrome |
|
Abdominal cramps, Diarrhea, Vomiting, Myocarditis, Decreased urine output, Anuria, Hypertension, ... |
ORPHA:544482 |
D-2-Hydroxyglutaric Aciduria 2 |
|
D-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric acidemia, Cardiomyopathy |
OMIM:613657 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Vomiting, Increased circulating renin level, Nause... |
OMIM:241150 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... |
OMIM:619897 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function |
ORPHA:217622 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Failure to thrive, Cardiomyopathy |
OMIM:613752 |
Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Death in childhood, Dilated cardiomyopathy, Death in infancy |
OMIM:618189 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
3-Methylglutaconic Aciduria, Type V |
|
Intrauterine growth retardation, 3-Methylglutaric aciduria, Hypospadias, Sudden cardiac death, Di... |
OMIM:610198 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... |
ORPHA:168796 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Dysphagia, Achalasia, Ischemic stroke, Hypertension |
OMIM:615750 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure |
OMIM:611879 |
Duplication Of Urethra |
|
Bladder duplication, Chordee, Dysuria, Distal urethral duplication, Epispadias, Anal atresia, Mic... |
ORPHA:237 |
Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Decreased circulating aldosterone level, Hypokalemia, Intrauterine growth reta... |
ORPHA:320 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Glucocortocoid-insensitive primary hyperaldosteronism, Arrhythmia, Vomiting, I... |
ORPHA:171876 |
Atresia Of Urethra |
|
Abdominal distention, Pulmonary insufficiency, Hydroureter, Recurrent urinary tract infections, B... |
ORPHA:105 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Decreased plasma carnitine, Dilated cardiomyopathy |
OMIM:611283 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute colitis, Bloody diarrhea, Hypokalemia, Intussusception, Abdominal pain, Hemoglobinuria, Per... |
ORPHA:90038 |
Visceral Myopathy 1 |
|
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Vomiting, Urinary retention, Dyspha... |
OMIM:155310 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... |
OMIM:615248 |
Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassium, Polyuria, Hypocal... |
OMIM:607364 |
American Trypanosomiasis |
|
Abdominal pain, Pallor, Diarrhea, Arrhythmia, Myocarditis, Cardiomyopathy, Achalasia, Aganglionic... |
ORPHA:3386 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
ORPHA:34587 |
Cardiomyopathy, Dilated, 1K |
|
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure |
OMIM:605582 |
Myopathy, Myofibrillar, 1 |
|
Constipation, Restrictive cardiomyopathy, Diarrhea, Third degree atrioventricular block, Dilated ... |
OMIM:601419 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Micropenis, Hypospadias, Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy, B... |
OMIM:618815 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... |
ORPHA:90791 |
Systemic Capillary Leak Syndrome |
|
Abdominal pain, Abnormal renal tubule morphology, Diarrhea, Arrhythmia, Myocarditis, Hypotension,... |
ORPHA:188 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Constipation, Renal juxtaglomerular... |
OMIM:601678 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Abdominal pain, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Olig... |
OMIM:614723 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
Malonyl-Coa Decarboxylase Deficiency |
|
Left ventricular noncompaction cardiomyopathy, Constipation, Abdominal pain, Short stature, Methy... |
OMIM:248360 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Feeding difficulties, Excessive insulin response... |
ORPHA:276575 |
Addison Disease |
|
Thymoma, Constipation, Decreased circulating cortisol level, Orthostatic hypotension, Diarrhea, H... |
ORPHA:85138 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence |
ORPHA:2795 |
Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Poor suck, Decreased body weight, Dilated cardiomyopathy, Short stature |
OMIM:300580 |
Congenital Primary Megaureter |
|
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... |
ORPHA:617 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Chronic kidney disease, Esophageal neoplasm, Gastroesophageal reflux, Failure to thriv... |
ORPHA:1018 |
Brain-Lung-Thyroid Syndrome |
|
Hypoparathyroidism, Abnormal cardiac septum morphology, Failure to thrive, Abnormality of the thy... |
ORPHA:209905 |
Cardiomyopathy, Dilated, 1Bb |
|
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:612877 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, Intrauterine growth retardation, Short stature |
ORPHA:2515 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Urinary retention, Skeletal muscle atrophy, Foot dorsiflexor weakness |
OMIM:616586 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Feeding difficulties, Excessive insulin response... |
ORPHA:276580 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Feeding difficulties, Excessive insulin response to glucagon test,... |
ORPHA:276556 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Intestinal malrotation, Hydroureter, Hydronephrosis, Microcolon, Megacystis |
OMIM:619431 |
Familial Isolated Dilated Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy |
ORPHA:154 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:616730 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy |
OMIM:604286 |
Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Short stature, Anorexia, Pallor, Diarrhea, Paroxysmal atrial tachycardia, V... |
ORPHA:49827 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Elevated circulating creatine kinase concentration, Arrhythmia, Dilated car... |
OMIM:181350 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy, Hypogonadism, Obesity, Diabe... |
OMIM:615981 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Hypokalemia, Short stature, Polyuria, Hypocalciuria, Increased circulating renin ... |
OMIM:612780 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Feeding difficulties, Elevated circulating creatine kinase concentr... |
OMIM:255100 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Nephrolithiasis, Hypokalemia, Left ventricular hypertrophy, Ventricular septal defect, Biventricu... |
OMIM:615474 |
Sepsis In Premature Infants |
|
Decreased liver function, Petechiae, Elevated circulating C-reactive protein concentration, Enter... |
ORPHA:90051 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Polyuria, Hypercalciuria, Increased circulating renin level, Hyponatremia, Medullary... |
OMIM:300971 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Nephrolithiasis, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentrati... |
ORPHA:352447 |
Cardiomyopathy, Dilated, 1Ii |
|
Mitral regurgitation, Elevated circulating creatine kinase concentration, Increased left ventricu... |
OMIM:615184 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Short stature, Elevated circulating creatine kinase concentration, Death in... |
OMIM:255160 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Dilated cardiom... |
ORPHA:206546 |
East Syndrome |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Renal magnesium wasting, Renal so... |
ORPHA:199343 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... |
ORPHA:159 |
Myopathy, Distal, 1 |
|
Left atrial enlargement, Elevated circulating creatine kinase concentration, Dilated cardiomyopat... |
OMIM:160500 |
2p15-16.1 microdeletion syndrome |
|
Camptodactyly of finger, Hydronephrosis |
DECIPHER:70 |
Microscopic Polyangiitis |
|
Abdominal pain, Peritonitis, Diarrhea, Arrhythmia, Hematuria, Vasculitis, Pericarditis, Oliguria,... |
ORPHA:727 |
Cleft Larynx, Posterior |
|
Aspiration |
OMIM:215800 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Malabsorption, Gastroesophageal reflux, Abnormal bowel sounds, Xerost... |
ORPHA:220393 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Myo... |
OMIM:619424 |
Foix-Alajouanine Syndrome |
|
Lower limb muscle weakness, Functional abnormality of the bladder, Urinary retention, Distal lowe... |
ORPHA:79093 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Episodic abdominal pain, Cerebral hemorrhage, Sinu... |
ORPHA:94080 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in adolescence, Death in early adulthood, Cardiomyocyte hypertrophy, Dilated cardiomyopathy... |
OMIM:605676 |
Cyclic Vomiting Syndrome |
|
Abdominal pain, Anorexia, Pallor, Vomiting, Nausea, Growth delay, Gastrointestinal dysmotility, C... |
OMIM:500007 |
Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy |
OMIM:615235 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Scleromyxedema |
|
Gastroesophageal reflux, Raynaud phenomenon, Abnormality of the kidney, Elevated circulating crea... |
ORPHA:167635 |
Mirage Syndrome |
|
Adrenal insufficiency, Petechiae, Gastroesophageal reflux, Decreased body weight, Short stature, ... |
OMIM:617053 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Constipation, Renal juxtaglomerular... |
OMIM:241200 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Diarrhea, Arrhythmia, V... |
ORPHA:31824 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... |
ORPHA:563 |
Bartter Syndrome Type 4 |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Vomiting, Increased circulating ren... |
ORPHA:89938 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Arrhythmia, Dilated ... |
OMIM:602390 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Hyperammonemia, Elevated circulating creatine kinase concentration, Dilated cardio... |
OMIM:618120 |
Polymyositis |
|
Abnormal mitral valve morphology, Constipation, Gastroesophageal reflux, Abdominal pain, Abnormal... |
ORPHA:732 |
Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Diarrhea, Vomiting, Increased circulating free fatty acid level, Proportionate short stature, Int... |
ORPHA:71212 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Absent ankle pulse, Pallor, Myocardial infarction, Abnormality of v... |
ORPHA:90064 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Vomiting, Inc... |
ORPHA:289548 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy |
OMIM:300718 |
Fabry Disease |
|
Angina pectoris, Telangiectasia of the skin, Hematuria, Proteinuria, Abnormal myocardium morpholo... |
ORPHA:324 |
X-Linked Intellectual Disability, Schimke Type |
|
High palate, Hip contracture, Elbow flexion contracture, Knee flexion contracture, Hydronephrosis... |
ORPHA:85285 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Vomiting, Inc... |
ORPHA:168558 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Failure to thrive, Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infection... |
OMIM:191800 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy |
OMIM:612937 |
Hyperaldosteronism, Familial, Type I |
|
Abnormality of the urinary system, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circula... |
OMIM:103900 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Reduced systolic func... |
OMIM:616827 |
Fatal Familial Insomnia |
|
Urinary retention, Weight loss |
OMIM:600072 |
Retinohepatoendocrinologic Syndrome |
|
Maturity-onset diabetes of the young, Elevated circulating creatine kinase concentration, Pallor,... |
OMIM:268040 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Myoglobinuria, Feeding difficulties in infancy, Dicarboxylic aciduria,... |
OMIM:231530 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
Nemaline Myopathy 3 |
|
Slender build, Feeding difficulties in infancy, Dilated cardiomyopathy, Mildly elevated creatine ... |
OMIM:161800 |
Cardiomyopathy, Dilated, 2F |
|
Increased circulating brain natriuretic peptide concentration, Increased left ventricular end-dia... |
OMIM:619747 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Increased circulating brain natriuretic peptide concentration, Left... |
OMIM:601494 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Decreased circulating aldosterone level, Hypokalemia, Growth delay, Small for ... |
OMIM:218030 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Achalasia, Severe short stature |
ORPHA:3239 |
Porphyria, Acute Intermittent |
|
Dysuria, Paralytic ileus, Elevated urinary delta-aminolevulinic acid, Urinary retention, Urinary ... |
OMIM:176000 |
Cholera |
|
Abdominal cramps, Abnormality of renal excretion, Hypokalemia, Hypocalcemia, Abdominal pain, Hypo... |
ORPHA:173 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Anorexia, Failure to thrive, Pallor |
ORPHA:79283 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Feeding difficulties, Small for gestational age,... |
ORPHA:324575 |
Familial Visceral Myopathy |
|
Cleft palate, Hydroureter, Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of... |
ORPHA:2604 |
Dpm3-Cdg |
|
Elevated creatine kinase after exercise, Dilated cardiomyopathy |
ORPHA:263494 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Right bundle branch b... |
ORPHA:206559 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Bifid uvula, Hydronephrosis |
ORPHA:2669 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Failure to thrive, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Vomiting,... |
OMIM:143880 |
Gaisböck Syndrome |
|
Angina pectoris, Hypovolemia, Hyperproteinemia, Elevated diastolic blood pressure, Increased circ... |
ORPHA:90041 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
Renal Hypoplasia |
|
Chronic kidney disease, Small for gestational age, Abnormal renal tubule morphology, Unilateral r... |
ORPHA:93101 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Diarrhea, Arr... |
OMIM:615084 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Diarrhea, Tachycardia, Vomiting, Arrhythmia, Hypotension, Elevated circulatin... |
ORPHA:542323 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating renin level, Hy... |
OMIM:613677 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Abnormal T-wave, Neoplasm of the adrenal gland, Increased circulating cortisol level... |
ORPHA:231625 |
Acute Intermittent Porphyria |
|
Dark urine, Dysuria, Ileus, Proximal muscle weakness in lower limbs, Urinary incontinence, Increa... |
ORPHA:79276 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy |
ORPHA:34515 |
Iatrogenic Botulism |
|
Urinary retention, Xerostomia |
ORPHA:254509 |
Galloway-Mowat Syndrome 7 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Short stature, IgA deposi... |
OMIM:618348 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Elevated systolic blood pressure, Decreased serum creatinine, Hypernatriuria, Hyponatremia, Decre... |
OMIM:300539 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy |
OMIM:602541 |
Laryngotracheoesophageal Cleft |
|
Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor |
ORPHA:2004 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Eleva... |
ORPHA:79230 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy |
OMIM:610140 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Arrhythmia, Oliguria, Hyperphosphatemia, Acute... |
ORPHA:99845 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Hypoalbuminemia, Chronic diarrhea, Failure to thrive in infancy, Reduced ... |
OMIM:618805 |
Liddle Syndrome 1 |
|
Decreased circulating aldosterone level, Hypokalemia, Renal insufficiency, Decreased circulating ... |
OMIM:177200 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Death in infancy, Vomiting, Hypertrophic cardiomyopathy |
OMIM:614299 |
Achalasia-Microcephaly Syndrome |
|
Achalasia, Growth delay |
ORPHA:929 |
Salih Myopathy |
|
Elevated circulating creatine kinase concentration, Arrhythmia, Dilated cardiomyopathy |
OMIM:611705 |
Rheumatic Fever |
|
Abnormal mitral valve morphology, Nephrotic syndrome, Constipation, Abdominal pain, Anorexia, Pal... |
ORPHA:3099 |
Yellow Fever |
|
Supraventricular arrhythmia, Hyperbilirubinemia, Abdominal pain, Hematemesis, Elevated circulatin... |
ORPHA:99829 |
Inhalational Botulism |
|
Urinary retention, Xerostomia |
ORPHA:254504 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Atrial septal defect, Intestinal malrotation, Hypoperistalsis, Patent ductus arteriosus, Hyperten... |
OMIM:613834 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Type II diabetes mellitus, Short stature, Renovascular hypertension, Aorti... |
ORPHA:401923 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Constipation, Abnormal renal physiology, Diarrhea, Nephropathy, Arrhythmi... |
ORPHA:85447 |
Cardiac Lipidosis, Familial |
|
Death in infancy, Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating cr... |
OMIM:300257 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Functional abnormality of the bladder, Skeletal muscle atrophy, Lower limb muscle weakness |
ORPHA:488594 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Tricuspid regurgitation, Feeding difficulties, Left ventricular hypertrophy, Left vent... |
OMIM:619167 |
Adult-Onset Nemaline Myopathy |
|
Neuromuscular dysphagia, Dilated cardiomyopathy, Feeding difficulties, Mildly elevated creatine k... |
ORPHA:171442 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure |
OMIM:614672 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Nephrotic syndrome, Cutis laxa, Renal insufficiency, Cardiomyopathy |
OMIM:105120 |
Aa Amyloidosis |
|
Adrenal insufficiency, Chronic kidney disease, Nephrotic syndrome, Malabsorption, Abdominal pain,... |
ORPHA:85445 |
Hinman Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... |
ORPHA:84085 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Achalasia, Orthostatic hypotension |
OMIM:252320 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... |
OMIM:613255 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Hyperprolinemia, Neonatal death, Lacticaciduria, Pulmonar... |
OMIM:619003 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Vomiting, Dilated cardiomyopa... |
OMIM:600649 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Tetrasomy 18P |
|
Achalasia, Syncope |
ORPHA:3307 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Dilated cardiomyopathy |
OMIM:619903 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Increased urinary potassium, Palpitations, Adrenal hyperplasia, Nausea, Decreased ci... |
ORPHA:231580 |
Mitochondrial Trifunctional Protein Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Feeding difficulties, Hypera... |
OMIM:609015 |
Wound Botulism |
|
Urinary retention |
ORPHA:178475 |
Botulism |
|
Urinary retention, Xerostomia |
ORPHA:1267 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Cerebellar hemorrhage, Hyper... |
ORPHA:99901 |
Lujo Hemorrhagic Fever |
|
Abdominal cramps, Odynophagia, Elevated circulating C-reactive protein concentration, Diarrhea, F... |
ORPHA:319213 |
Achalasia-Microcephaly Syndrome |
|
Achalasia |
OMIM:200450 |
Triple A Syndrome |
|
Adrenal insufficiency, Achalasia, Anterior hypopituitarism, Short stature |
ORPHA:869 |
Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
Moyamoya Disease 1 |
|
Telangiectasia, Inflammatory arteriopathy |
OMIM:252350 |
Cardiomyopathy, Dilated, 2E |
|
Death in childhood, Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Death in infa... |
OMIM:619492 |
Lassa Fever |
|
Miscarriage, Abdominal pain, Diarrhea, Oliguria, Shock, Dysphagia, Nausea and vomiting |
ORPHA:99824 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Urinary retention, Pollakisuria, Skeletal muscle atrophy |
ORPHA:447760 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Vomiting, Ventricular septal defect, Anteriorly placed anus, Increased circulating free fatty aci... |
ORPHA:26793 |
X-Linked Spastic Paraplegia Type 16 |
|
Functional abnormality of the bladder |
ORPHA:100997 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Death in childhood, Dicarboxylic aciduria, Dilated cardiomyopathy, Death in infa... |
OMIM:611126 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Failure to thrive, Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
Foodborne Botulism |
|
Urinary retention, Xerostomia |
ORPHA:228371 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Hypokalemia, Short stature, Anorexia, Pallor, Distal renal tubular acidosis, I... |
OMIM:611590 |
Polyarteritis Nodosa |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Raynaud phenomenon, Abnorm... |
ORPHA:767 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy, Carnosinuria |
OMIM:309930 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... |
ORPHA:1909 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Gastroesophageal reflux, Atrial septal defect, Feeding difficulties, Secundum atrial septal defec... |
OMIM:600987 |
Leprechaunism |
|
Failure to thrive, Severe intrauterine growth retardation, Hyperinsulinemia, Hypokalemia, Abdomin... |
ORPHA:508 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hematuria, Proteinuria, Adrenal pheochromocytoma, Weight loss, Elevated urinary epinephrine, Cere... |
ORPHA:276621 |
Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder, Neonatal death, Small for gestational age |
OMIM:300076 |
Vesicoureteral Reflux 3 |
|
Hydroureter, Vesicoureteral reflux, Hydronephrosis |
OMIM:613674 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Precocious puberty, Hypokalemia, Short stature, Decreased cir... |
ORPHA:90795 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Decreased body weight, Cleft palate, Hydronephrosis, Arthrogryposis multiplex congenita, Vesicour... |
OMIM:618265 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... |
OMIM:615382 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Achalasia, Decreased response to growth hormone stimulation test, Short stature |
ORPHA:436174 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Achalasia |
ORPHA:2400 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Increased circu... |
ORPHA:90793 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Precocious puberty, Dilated cardiomyopathy |
ORPHA:2229 |
Urofacial Syndrome 1 |
|
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... |
OMIM:236730 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Urinary retention, Weight loss |
ORPHA:2126 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dysuria, Failure to thrive, Ureterocele, Aplasia/Hypoplasia of the bladder, Ureteral obstruction,... |
ORPHA:79404 |
Adrenomyeloneuropathy |
|
Urinary bladder sphincter dysfunction, Urinary urgency, Leg muscle stiffness, Urinary retention, ... |
ORPHA:139399 |
Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Renal cortical adenoma, Nausea, Decreased circulating renin level, Epistaxis, Hypert... |
ORPHA:231632 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Achalasia, Recurrent urinary tract infections, Urinary incontinence |
OMIM:609033 |
Macdermot-Winter Syndrome |
|
Camptodactyly of finger, Hydronephrosis |
OMIM:247990 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Lower limb muscle weakness, Increased intramyocellular lipid dr... |
ORPHA:79102 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Achalasia, Short stature |
OMIM:221350 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Left ventricular noncompaction, Short stature, Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:252011 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Dk1-Cdg |
|
Failure to thrive, Short stature, Arrhythmia, Cardiomyocyte hypertrophy, Interstitial cardiac fib... |
ORPHA:91131 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Dysphagia, Achalasia, Short stature, Death in early adulthood |
ORPHA:79107 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... |
OMIM:616963 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Short stature, Hyperg... |
ORPHA:280679 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
Dystonia, Juvenile-Onset |
|
Dysphagia, Achalasia, Pseudobulbar paralysis, Small for gestational age |
OMIM:607371 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Myopathy, Centronuclear, 5 |
|
Dilated cardiomyopathy |
OMIM:615959 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Cong... |
ORPHA:1349 |
Bladder Diverticulum |
|
Dysuria, Solitary bladder diverticulum, Recurrent urinary tract infections, Hematuria, Urinary he... |
OMIM:109820 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Diarrhea, Vomiting, Dry skin, Dilated cardiomyopathy, Death in infancy, Increa... |
OMIM:610768 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Abd... |
ORPHA:567548 |
Immunodeficiency 70 |
|
Achalasia, Colitis, Celiac disease |
OMIM:618969 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Micropenis, Renal agenesis, Hypogonadotropic hypogonadism, Mitral ... |
ORPHA:2326 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension |
OMIM:605115 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Dysphagia, Failure to thrive, Dilated cardiomyopathy, Feeding difficulties |
OMIM:255310 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Diarrhea, Vomiting, Enlarged kidney, Elevated circulating creatinine concentration, Cardiomegaly,... |
OMIM:608836 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Organic aciduria, Hypertrophic cardiomyopathy, Neonatal death, Death in infancy |
OMIM:617184 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Fanconi Anemia, Complementation Group O |
|
Anal atresia, Small thenar eminence, Neonatal death, Renal cyst, Hydronephrosis, Rectal atresia, ... |
OMIM:613390 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Failure to thrive, Hypoproteinemia, Abdominal pain, Elevated circulating creatine kinase concentr... |
OMIM:615895 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Decreased body weight, Atrial septal defect, Decreased response ... |
OMIM:609053 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Pallor, Tachycardia, Pancreatic islet-cell hyper... |
ORPHA:276608 |
Melas |
|
Constipation, Diarrhea, Vomiting, Type I diabetes mellitus, Proteinuria, Proximal tubulopathy, In... |
ORPHA:550 |
Alstrom Syndrome |
|
Hyperinsulinemia, Nephritis, Decreased response to growth hormone stimulation test, Short stature... |
OMIM:203800 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Urinary urgency, Hypotension, Urinary incontinence |
OMIM:156310 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... |
ORPHA:263455 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Barth Syndrome |
|
Failure to thrive, Tricuspid regurgitation, Arrhythmia, Increased left ventricular end-diastolic ... |
OMIM:302060 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Hypocalcemia, Gastritis, Tachycardia, Hematuria, Vomiting, Hypotension... |
ORPHA:31826 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
3-Methylglutaric aciduria, Hyperammonemia, Pallor, Death in childhood, Vomiting, Organic aciduria... |
OMIM:246450 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... |
OMIM:613496 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hematuria, Proteinuria, Adrenal pheochromocytoma, Weight loss, Elevated urinary epinephrine, Cere... |
ORPHA:29072 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Dilated cardiomyopathy, Hydronephrosis |
OMIM:607598 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Patent ductus arteriosus, Dysphagia, Hypertrophic cardiomyopathy, Intraut... |
OMIM:616276 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Pallor, Tachycardia, Increased total bilirubin, Congestive heart failure |
ORPHA:90037 |
Andersen-Tawil Syndrome |
|
Renal tubular dysfunction, Torsade de pointes, Abnormal T-wave, Premature ventricular contraction... |
ORPHA:37553 |
Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Ethylmalonic aciduria, Feedi... |
ORPHA:26792 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia, Gastroesophageal reflux, Feeding difficulties, Small intestinal dysmotility, D... |
OMIM:619482 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Short stature, Hypothyroidism, Type I diabetes mellitus, Delay... |
OMIM:615952 |
Myopathy, Congenital, Progressive, With Scoliosis |
|
High palate, Hydronephrosis, Skeletal muscle atrophy, Renal atrophy, Congenital contracture, Faci... |
OMIM:618578 |
Exercise-Induced Malignant Hyperthermia |
|
Decreased liver function, Hypocalcemia, Abnormal pulse pressure, Abnormal T-wave, ST segment depr... |
ORPHA:466650 |
Neutrophilic Dermatosis, Acute Febrile |
|
Elevated circulating C-reactive protein concentration, Erythema, Dilated cardiomyopathy, Pyoderma... |
OMIM:608068 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Bladder diverticulum, Cleft palate, Ureterocele, Micropenis, Renal agenesis, Hydroureter, Absence... |
OMIM:604292 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Anal atresia, Aganglionic megacolon, Hydronephrosis |
OMIM:235760 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Unilateral renal ag... |
OMIM:618845 |
Congenital Disorder Of Glycosylation, Type It |
|
Short stature, Sudden cardiac death, Elevated circulating creatine kinase concentration, Tachycar... |
OMIM:614921 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:619688 |
Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:324588 |
Gm1-Gangliosidosis, Type I |
|
Severe short stature, Abnormality of the urinary system, Dilated cardiomyopathy, Death in infancy... |
OMIM:230500 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Urinary retention, Failure to thrive in infancy |
ORPHA:79124 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Abnormal left ventricular function, Elevated circulating creatine kinase concentration, Dilated c... |
OMIM:607155 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Dysphagia, Achalasia, Enuresis |
ORPHA:289483 |
Propionic Acidemia |
|
Constipation, Hyperammonemia, Arrhythmia, Organic aciduria, Cardiomyopathy |
ORPHA:35 |
Cat-Eye Syndrome |
|
Anal atresia, Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis |
ORPHA:195 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Anorexia, Weight loss, Central hypothyroidism |
ORPHA:514 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperactive renin-angiotensin system, Failure to thrive, Diarrhea, Vomiting, Hyperaldosteronism, ... |
OMIM:264350 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor, Vomiting |
ORPHA:71518 |
Lethal Infantile Mitochondrial Myopathy |
|
Fatal liver failure in infancy, Cardiomyopathy, Renal insufficiency |
ORPHA:254857 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Failure to thrive, Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Car... |
OMIM:300952 |
Cockayne Syndrome Type 3 |
|
Flexion contracture, Unilateral renal agenesis, Hydroureter, Urinary retention, Renal hypoplasia,... |
ORPHA:90324 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Congestive heart failure, Short stature, Myocardial infarction, Dilated... |
OMIM:208000 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Decreased liver function, Failure to thrive, Hepatic failure, Dilated cardiomyopathy, Esophageal ... |
ORPHA:367 |
Bohring-Opitz Syndrome |
|
Cleft palate, Severe failure to thrive, Nephroblastoma, Urinary retention, Lower limb hypertonia,... |
ORPHA:97297 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Anal atresia, Failure to thrive, Constipation, Intestinal atresia, Atri... |
ORPHA:2970 |
Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... |
ORPHA:2704 |
Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Abdominal pain, Pallor, Arrhythmia, Congestive heart failure |
ORPHA:98375 |
Leigh Syndrome With Cardiomyopathy |
|
Decreased liver function, Failure to thrive, Renal tubular acidosis, Abnormal renal tubule morpho... |
ORPHA:70474 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Short stature, Hyperg... |
OMIM:300845 |
Dilated Cardiomyopathy With Ataxia |
|
Intrauterine growth retardation, Hypoplasia of penis, Muscular ventricular septal defect, Elevate... |
ORPHA:66634 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Growth delay, Pallor, Hypogonadism |
OMIM:615234 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... |
ORPHA:91359 |
Wild Type Attr Amyloidosis |
|
Nephrotic syndrome, Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunc... |
ORPHA:330001 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating aldosterone level, Short stature, Decreased circulating cortisol level, Ort... |
OMIM:231550 |
Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... |
OMIM:611878 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Dysmyelination With Jaundice |
|
Hydroureter, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia, Hyperten... |
OMIM:618114 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Hypokalemia, Hyperte... |
OMIM:202010 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor, Short stature |
ORPHA:2786 |
Aneurysm Of Sinus Of Valsalva |
|
Bacterial endocarditis, Heart murmur, Oliguria, Aortic regurgitation, Congestive heart failure |
ORPHA:1054 |
Loeffler Endocarditis |
|
Right bundle branch block, Weight loss, Pericarditis, Myocardial fibrosis, Abnormal morphology of... |
ORPHA:75566 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Chronic kidney disease, Hypomagnesemia, Feeding difficulties, Polyuria, Hypere... |
OMIM:613845 |
Laing Early-Onset Distal Myopathy |
|
Dilated cardiomyopathy, Mildly elevated creatine kinase |
ORPHA:59135 |
Nephronophthisis-Like Nephropathy 2 |
|
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... |
OMIM:619468 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, 3-Methylglutaric aciduria, Hyperammonemia, Anorexia, Pallor, Diarrhea, Episodic vomiti... |
ORPHA:20 |
Naxos Disease |
|
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... |
OMIM:601214 |
Alg1-Cdg |
|
Decreased liver function, Nephrotic syndrome, Abnormality of the kidney, Abnormality of the gastr... |
ORPHA:79327 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Growth delay, Decreased body weight, Constipation, Gastroesophageal reflux, Fe... |
ORPHA:89842 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Concentric hypertrophic cardiomyopathy, Death in childhood, Elevated circulating creatine kinase ... |
OMIM:610505 |
Li-Campeau Syndrome |
|
Atrial septal defect, Micropenis, Short stature, Hypothyroidism, Ventricular septal defect, Paten... |
OMIM:619189 |
Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... |
ORPHA:98853 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Hypoplastic left heart, Short stature, Unilateral renal agenesis, Rhizome... |
OMIM:617661 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Erythema, Tachycardia, Syncope |
OMIM:615821 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Intrauterine growth retardation |
ORPHA:272 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Adrenal insufficiency, High-output congestive heart failure, Feeding difficul... |
ORPHA:231226 |
Familial Dilated Cardiomyopathy |
|
Failure to thrive, Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral r... |
ORPHA:217607 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Urinary retention, Recurrent urinary tract infections, Urinary urgency, Flexion contracture |
ORPHA:99027 |
Beta-Thalassemia |
|
Pallor, Hypogonadotropic hypogonadism, Abnormality of iron homeostasis, Skin ulcer, Hypertrophic ... |
ORPHA:848 |
Xanthinuria, Type I |
|
Xanthinuria, Hydronephrosis, Myopathy, Pyelonephritis, Xanthine nephrolithiasis |
OMIM:278300 |
Spontaneous Periodic Hypothermia |
|
Pallor, Nausea and vomiting, Diarrhea, Arrhythmia |
ORPHA:29822 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... |
ORPHA:98855 |
Muscular Dystrophy, Duchenne Type |
|
Elevated circulating creatine kinase concentration, Arrhythmia, Dilated cardiomyopathy, Abnormal ... |
OMIM:310200 |
Snakebite Envenomation |
|
Neuromuscular dysphagia, Pseudobulbar paralysis, Intracranial hemorrhage, Diarrhea, Tachycardia, ... |
ORPHA:449285 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Abnormality of the diaphragm, Ureteral atresia, Hydronephrosis |
OMIM:183802 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Urinary retention, Small for gestational age |
OMIM:617799 |
Nephronophthisis 1 |
|
Growth delay, Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitia... |
OMIM:256100 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation |
OMIM:257500 |
Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Hydronephrosis |
OMIM:617127 |
Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Pallor, Heart murmur, Glomerulonephritis, Diffuse alveolar hemorrhage, Cardiom... |
ORPHA:99931 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Renal insufficiency, Hyperuricemia, Hypertension, Cardiomyopathy |
ORPHA:3222 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Intrauterine growth retardation, Supravalvular aortic stenosis, Cutis laxa, Lack of skin elastici... |
ORPHA:90349 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Sudden c... |
ORPHA:73224 |
Acute Transverse Myelitis |
|
Urinary bladder sphincter dysfunction, Paralytic ileus, Urinary retention, Upper limb muscle weak... |
ORPHA:139417 |
Neuroendocrine Tumor Of The Colon |
|
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Melena, Bowel urgency, Bloody diar... |
ORPHA:100080 |
Primary Lateral Sclerosis, Juvenile |
|
Dysphagia, Pallor |
OMIM:606353 |
Myoclonus, Intractable, Neonatal |
|
Dysphagia, Pallor, Feeding difficulties |
OMIM:617235 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Polyuria, Diarrhea, Death in childhood, Vomiting, Death in adolescence, Type I... |
OMIM:560000 |
Neuroendocrine Tumor Of The Rectum |
|
Increased serum serotonin, Melena, Bowel urgency, Constipation, Hematochezia, Facial telangiectas... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Increased serum serotonin, Melena, Bowel urgency, Constipation, Hematochezia, Facial telangiectas... |
ORPHA:100082 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Failure to thrive, Constipation, Gastroesophageal reflux, Hyperthyroidism, Left ventricular hyper... |
ORPHA:254892 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Gastroesophageal reflux, Aminoaciduria, Short stature, Arrhythmia, Ventricu... |
OMIM:249270 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Postnatal growth retardation, Small for gestational ... |
OMIM:613355 |
Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Abnormal cardiac ventricu... |
ORPHA:439232 |
3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Failure to thrive, 3-Methylglutaconic aciduria, Cardiomyopathy |
ORPHA:67048 |
Acute Myelomonocytic Leukemia |
|
Pallor, Weight loss |
ORPHA:517 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Increased total bilirubin, Tachycardia, Pallor |
ORPHA:90036 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Hypergonadotropic hypogonadism, Mitral regurgitation, Dilated cardiomyopathy |
OMIM:212112 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Central hypoventilation, Apnea, Respiratory failure |
OMIM:619483 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Failure to thrive, Atrial septal defect, P... |
OMIM:619343 |
Prune Belly Syndrome |
|
Anal atresia, Hydroureter, Xerostomia, Aplasia of the abdominal wall musculature, Hydronephrosis,... |
OMIM:100100 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:606703 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Feeding difficulties, Hyper... |
ORPHA:2394 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Adrenal insufficiency, High-output congestive heart failure, Feeding difficul... |
ORPHA:231214 |
Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Cleft palate, Hypospadias, Left ventricular hypertrophy, Camptodactyly, Renal insuff... |
OMIM:611209 |
Adenohypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95512 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hypert... |
OMIM:617021 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Vomiting, Low-output congestive heart failure, Abnormal B... |
ORPHA:66529 |
Parkes Weber Syndrome |
|
Nephrotic syndrome, Abnormality of the urinary system, Muscle hypertrophy of the lower extremitie... |
ORPHA:90307 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Disproportionate short-limb short stature, Abnormal circulating lipid concentration, Unilateral r... |
OMIM:616541 |
Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Left ventricular hypertrophy, Elevated circulating creatine kinase concentrat... |
OMIM:617713 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Hyperammonemia, Anorexia, Pallor, Diarrhea, Vomiting, Hypotension, Hyperuricemia, Hype... |
ORPHA:134 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Arrhythmia, Cardiomyopathy |
OMIM:612999 |
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Mild short stature, Vesicou... |
OMIM:601450 |
Familial Glucocorticoid Deficiency |
|
Constipation, Decreased circulating cortisol level, Diarrhea, Vomiting, Decreased circulating deh... |
ORPHA:361 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... |
OMIM:607941 |
Sheehan Syndrome |
|
Constipation, Central adrenal insufficiency, Decreased circulating cortisol level, Orthostatic hy... |
ORPHA:91355 |
Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema |
OMIM:603165 |
Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Left ventricular noncompaction, Atrial standstill, Mo... |
ORPHA:1344 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor |
ORPHA:228312 |
Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
Neonatal Lupus Erythematosus |
|
Hepatic failure, Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Dilated cardio... |
ORPHA:398124 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hematuria, Xanthine nephrolithiasi... |
ORPHA:3467 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Hypotaurinemia, Mitral valve prolapse, Dilated cardiomyopathy, Left ventricular systolic dysfunction |
OMIM:145350 |
Autosomal Recessive Polycystic Kidney Disease |
|
Growth delay, Cholangiocarcinoma, Hepatoblastoma, Reduced renal corticomedullary differentiation,... |
ORPHA:731 |
Panhypophysitis |
|
Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating prolactin co... |
ORPHA:95513 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Short stature, Urethral stricture, Esophageal stricture, Dilated cardiomyopath... |
OMIM:613989 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Diarrhea, Hyperphosphatemia, Vomiting |
OMIM:239350 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Abnormal heart morphology, Failure to thrive, Ketonuria, Subdural hemorrhage, Feeding difficultie... |
ORPHA:79282 |
Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... |
ORPHA:2041 |
Al Amyloidosis |
|
Renal interstitial amyloid deposits, Proteinuria, Postural hypotension with compensatory tachycar... |
ORPHA:85443 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... |
OMIM:616000 |
Achalasia, Familial Esophageal |
|
Achalasia, Xerostomia |
OMIM:200400 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Ileal Neuroendocrine Tumor |
|
Increased serum serotonin, Hepatic failure, Tricuspid stenosis, Small intestine carcinoid, Weight... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Increased serum serotonin, Hepatic failure, Tricuspid stenosis, Small intestine carcinoid, Weight... |
ORPHA:100077 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Heart murmur, Proteinuria, Postnatal growth retardation, Intrauterine growt... |
ORPHA:2728 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine kinase concentra... |
OMIM:212138 |
Endove Syndrome, Limb-Brain Type |
|
Failure to thrive, Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis |
OMIM:619218 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Hemoglobin D Disease |
|
Pallor, Abdominal pain |
ORPHA:90039 |
Neuroendocrine Tumor Of Stomach |
|
Increased serum serotonin, Melena, Bowel urgency, Hepatic failure, Facial telangiectasia, Weight ... |
ORPHA:100075 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Gastroesophageal reflux, Hyperammonemia, Necrotizing enterocolitis, Sudd... |
OMIM:201475 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Heart murmur, Ventricular se... |
ORPHA:860 |
Mcleod Syndrome |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Reduced haptoglobin l... |
OMIM:300842 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Nausea and vomiting, Diarrhea, Pallor |
ORPHA:56425 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
Hypomagnesemia 3, Renal |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Renal tubular aci... |
OMIM:248250 |
Camurati-Engelmann Disease |
|
Slender build, Cachexia, Urinary retention, Facial palsy, Skeletal muscle atrophy |
ORPHA:1328 |
X-Linked Immunoneurologic Disorder |
|
Functional abnormality of the bladder, Myopathy |
ORPHA:2571 |
Von Hippel-Lindau Disease |
|
Abnormal left ventricular function, Abdominal pain, Elevated urinary catecholamines, Pallor, Palp... |
ORPHA:892 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Adrenal insufficiency, Decreased liver function, High-output congestive heart... |
ORPHA:231222 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Telangiectasia of the skin, Growth delay, Decreased response to growth hormone stimulation test, ... |
OMIM:616007 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Neonatal death, Ventricular septal defect, Renal cyst, Renal hypoplasia, Truncus arteriosus |
OMIM:228940 |
Multiple Endocrine Neoplasia Type 2 |
|
Medullary thyroid carcinoma, Constipation, Elevated circulating parathyroid hormone level, Diarrh... |
ORPHA:653 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Death in childhood, Diarrhea, Episodic vomiting, Vomiting, Tachycar... |
OMIM:618321 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Pallor, Delayed puberty |
OMIM:600462 |
Vici Syndrome |
|
Failure to thrive, Left ventricular hypertrophy, Penile hypospadias, Dilated cardiomyopathy, Abno... |
OMIM:242840 |
Leishmaniasis |
|
Anorexia, Pallor, Hypoalbuminemia, Skin ulcer, Weight loss |
ORPHA:507 |
Esophageal Atresia |
|
Tracheoesophageal fistula, Vomiting, Pyloric stenosis, Ventricular septal defect, Anorectal anoma... |
ORPHA:1199 |
Alacrima, Achalasia, And Mental Retardation Syndrome |
|
Adrenal insufficiency, Feeding difficulties, Orthostatic hypotension, Esophageal stenosis, Dyspha... |
OMIM:615510 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Pallor |
ORPHA:75563 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
High, narrow palate, Cleft palate, Renal agenesis, Renal hypoplasia, Anteriorly placed anus, Hydr... |
OMIM:618494 |
Pearson Marrow-Pancreas Syndrome |
|
Failure to thrive, Exocrine pancreatic insufficiency, Malabsorption, Small for gestational age, H... |
OMIM:557000 |
Renal Glucosuria |
|
Polyuria, Glycosuria, Enuresis nocturna |
OMIM:233100 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
Senior-Loken Syndrome 4 |
|
Polyuria, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:606996 |
Bardet-Biedl Syndrome 17 |
|
Micropenis, Polyuria, Situs inversus totalis, Dextrocardia, Renal cyst, Hypogonadism, Obesity, St... |
OMIM:615994 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... |
ORPHA:85451 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Fetal megacystis, Hydroureter, Intestinal malrotation |
OMIM:249210 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Failure to thrive, Hepatic failure, Abnormal renal tubule morphology, Low plasma citrulline, Epis... |
ORPHA:255210 |
Bor Syndrome |
|
Renal hypoplasia/aplasia, Cleft palate, Multicystic kidney dysplasia, Ureteropelvic junction obst... |
ORPHA:107 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urinary bladder sphincter dysfunction, Chronic kidney disease, Growth delay, Gastroesophageal ref... |
ORPHA:79408 |
Hereditary Folate Malabsorption |
|
Failure to thrive, Gastroesophageal reflux, Anorexia, Pallor, Diarrhea, Recurrent urinary tract i... |
ORPHA:90045 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Failure to ... |
ORPHA:137675 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Atrial septal defect, Short stature, Unilateral renal agenesis, Ventricular septal defect, Patent... |
OMIM:608406 |
Hb Bart'S Hydrops Fetalis |
|
Pallor, Pericarditis, Congestive heart failure |
ORPHA:163596 |
Type 1 Diabetes Mellitus |
|
Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor, Diarrhea, Increased urinary glycerol, Vomiting, Tachycardia, Hyperuricemia, Reye syndrome... |
ORPHA:348 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Constipation, Pallor, Tachycardia, Vomiting, Proteinuria, Weight loss, Poor ap... |
ORPHA:35858 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Tachycardia, Pallor, Congestive heart failure |
ORPHA:90033 |
Athabaskan Brainstem Dysgenesis Syndrome |
|
Central hypoventilation |
OMIM:601536 |
Desmoid Tumor |
|
Malabsorption, Abnormality of the upper urinary tract, Intestinal obstruction, Intestinal polypos... |
ORPHA:873 |
Cardiomyopathy, Familial Hypertrophic 27 |
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Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
Retinitis Pigmentosa 73 |
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Pallor |
OMIM:616544 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
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Failure to thrive, Abdominal pain, Feeding difficulties, Hyperammonemia, Anorexia, Renal insuffic... |
ORPHA:79312 |
Primary Hyperoxaluria Type 3 |