| Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Senior-Loken Syndrome 4 |
|
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Pol... |
OMIM:613677 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Diarrhea, Hyperkalemia, Hyperactive renin-angiotensin system, H... |
OMIM:264350 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l... |
OMIM:619468 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia, Polyuria |
OMIM:222100 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Asthma, Recu... |
OMIM:617585 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp... |
OMIM:103900 |
| Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Diarrhea, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, I... |
OMIM:177735 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Nephrolithias... |
ORPHA:369929 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:620125 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Ground-glass opacification, ... |
OMIM:619773 |
| Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... |
OMIM:620056 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A... |
ORPHA:70589 |
| Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
| Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... |
ORPHA:231580 |
| Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Anorexia, Nephrogenic diabetes insipidus, Functional abnormalit... |
ORPHA:223 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... |
OMIM:620152 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613021 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Ground-glass opacification, Respiratory tract infection, Dyspnea, Nonproductive cough,... |
ORPHA:1303 |
| Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
| Hyperaldosteronism, Familial, Type Iv |
|
Hypertension, Hyperaldosteronism |
OMIM:617027 |
| Liddle Syndrome |
|
Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Constipation, Nephropathy, Arr... |
ORPHA:526 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
| Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... |
ORPHA:231625 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT, Ground-glass opacification, Dyspnea, Plasmacytosis, Cough |
ORPHA:60026 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
| Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
| Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:616963 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
| Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:54370 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... |
OMIM:265120 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... |
ORPHA:2902 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media |
OMIM:300455 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypertension, Hypokalemia, Hypocalciuria, I... |
OMIM:612780 |
| Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Pulmonary infiltrates, Cough |
ORPHA:64741 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intr... |
OMIM:610910 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... |
OMIM:615474 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... |
ORPHA:556037 |
| Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia |
ORPHA:95626 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polyuria, Nephrogenic diabetes insipidus, Megacystis, Vomiting, Constipation, Polydipsia, Hyperna... |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Megacystis, Vomiting, Constipation, Polydipsia, Hypernatremia, Diabetes insipidus |
OMIM:304800 |
| Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyp... |
ORPHA:94093 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-... |
ORPHA:79126 |
| Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Diabetes mellitus, Hypercholesterolemia, Myocardial infarction |
OMIM:608320 |
| Young Syndrome |
|
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... |
OMIM:279000 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Neutrophilia, Crackles, Ground-glass opac... |
ORPHA:1302 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
| Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal... |
ORPHA:320 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... |
ORPHA:556030 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Vomiting, Hypo... |
OMIM:203400 |
| Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Renal cortical adenoma, Hyperte... |
ORPHA:231632 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... |
OMIM:618314 |
| Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria |
ORPHA:2613 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:613944 |
| Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... |
OMIM:616818 |
| Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was... |
OMIM:610600 |
| Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... |
ORPHA:70588 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc... |
OMIM:610947 |
| Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Constip... |
ORPHA:225 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria, Hypertension |
ORPHA:2820 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough, Pulmonary opac... |
ORPHA:330012 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Trimethylaminuria |
|
Splenomegaly, Hypertension, Tachycardia, Trimethylaminuria |
OMIM:602079 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... |
ORPHA:84090 |
| C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Facial erythema, Arthritis, Vasculit... |
OMIM:620321 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Attention deficit hyper... |
OMIM:617182 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Vomiting |
OMIM:620126 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... |
ORPHA:79127 |
| Hypercalcemia, Infantile, 1 |
|
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:143880 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
| Focal Segmental Glomerulosclerosis 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... |
OMIM:613237 |
| East Syndrome |
|
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteron... |
ORPHA:199343 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension |
OMIM:607832 |
| Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Diarrhea, Neuromuscular dysphagia, I... |
ORPHA:449285 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Hypovolemic sh... |
ORPHA:171876 |
| Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Polyuria, Renal magnesium wasting, Hypomagnesemia, Ventricul... |
OMIM:263800 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Diarrhea, Increased urinary porphobilinogen, Hypertensio... |
OMIM:121300 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... |
ORPHA:91359 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Hyperkalemia, Stage 5 ... |
OMIM:602088 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
| Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Ground-glass opacif... |
OMIM:619611 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... |
ORPHA:723 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Thrombocytopenia, Giant platelets, Hypoxemia, Neutropenia, Abnor... |
ORPHA:238459 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Congestive heart failure,... |
OMIM:619048 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Elev... |
OMIM:300539 |
| Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
| Pseudohypoaldosteronism, Type Iib |
|
Pseudohypoaldosteronism, Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Pseudohypoaldosteronism, Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
| Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Hypertension, Type II diabetes mellitus, Polyphagia |
ORPHA:71529 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:161950 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti... |
ORPHA:199296 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiectasis, Decreased nas... |
OMIM:612444 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Myopathy, Myofibrillar, 1 |
|
Diarrhea, Dilated cardiomyopathy, Constipation, Third degree atrioventricular block, Bradycardia,... |
OMIM:601419 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Diarrhea,... |
ORPHA:427 |
| Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Hypercalcemia, Diarrhea, Nephrolithiasis, Hematuria, Vomiting, Hypernatremia |
ORPHA:35710 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Respiratory insufficiency |
OMIM:611369 |
| Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
| Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers... |
ORPHA:358 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachyp... |
ORPHA:36238 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
| Central Diabetes Insipidus |
|
Polydipsia, Nocturia, Anorexia |
ORPHA:178029 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
| Liddle Syndrome 1 |
|
Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease... |
OMIM:177200 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract... |
ORPHA:361 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Hypothyroi... |
ORPHA:213 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr... |
OMIM:601678 |
| Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypoplastic left heart, Bradycardia, Dysphagia, Hypertrophic cardiomyo... |
OMIM:616276 |
| Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Diarrhea, Hypovolemia, ... |
ORPHA:31824 |
| Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... |
ORPHA:275555 |
| Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ... |
ORPHA:439232 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f... |
ORPHA:73224 |
| Pseudohypoaldosteronism, Type Iie |
|
Pseudohypoaldosteronism, Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypertension, Cardiomyopathy, Hyperuricemia, Arrhythmia |
ORPHA:3222 |
| Pseudohypoaldosteronism Type 2 |
|
Hypertension, Hyperkalemia |
ORPHA:757 |
| Idiopathic Pulmonary Fibrosis |
|
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... |
ORPHA:2032 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia |
OMIM:616949 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Gastroesophageal reflux, Bradycardia |
OMIM:617173 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... |
OMIM:614473 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
| Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Nephrotic syndrome, Hypertension, Nephropathy |
OMIM:105200 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia, Mildly elevated creatine kinase, Dysphagia |
OMIM:620265 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... |
ORPHA:976 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
| Infant Botulism |
|
Hyponatremia, Cardiac arrest, Anorexia, Bowel incontinence, Xerostomia, Hypertension, Constipatio... |
ORPHA:178478 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Renal insufficiency, Hepatomegaly, Proteinuria, Myocardial infarction, Bowel incont... |
ORPHA:330001 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... |
OMIM:611489 |
| Idiopathic Achalasia |
|
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough |
ORPHA:930 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoargininemia, Hyperglutaminemia, Low plasma... |
OMIM:615751 |
| Immunodeficiency 104 |
|
Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med... |
OMIM:608971 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
| Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased circulating ren... |
OMIM:241200 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas... |
OMIM:613845 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Hypertension, Transient ischemic attack |
OMIM:616779 |
| Lessel-Kubisch Syndrome |
|
Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia |
OMIM:618681 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... |
ORPHA:91354 |
| Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Lymphopenia |
OMIM:247800 |
| Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... |
ORPHA:2004 |
| Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Abnormal left ventri... |
OMIM:540000 |
| Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:608644 |
| Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... |
OMIM:614492 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... |
OMIM:618254 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Miscarriage, Pneumonia |
ORPHA:464370 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena... |
ORPHA:97362 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
| Tako-Tsubo Cardiomyopathy |
|
Vomiting, Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricula... |
ORPHA:66529 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... |
ORPHA:1345 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Dicarboxylic aciduria, Cardiac arrest, Elevated circulatin... |
OMIM:212138 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
| Methemoglobinemia, Beta Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617973 |
| Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... |
ORPHA:50251 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
| Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... |
OMIM:613490 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Ventricular arrhythmia |
OMIM:141000 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Eosinophilic infiltration of the esophagus, Multiple muscular ventricular septal defects, Hypoalb... |
OMIM:615508 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Eczema, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arteria... |
OMIM:619751 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyper... |
OMIM:239200 |
| Webb-Dattani Syndrome |
|
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:615926 |
| Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
| Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Myocardial infarction, Decreased urinary potassium, Renal s... |
ORPHA:95409 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Hypothyroidism, Ventricular tachy... |
OMIM:601005 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Hereditary Coproporphyria |
|
Dark urine, Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Porphyrinuri... |
ORPHA:79273 |
| Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immo... |
OMIM:244400 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
| Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Bradycardia, Pulmonary arterial h... |
OMIM:616299 |
| Helix Syndrome |
|
Renal insufficiency, Polyuria, Nephrolithiasis, Hypocalciuria, Polydipsia |
OMIM:617671 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
| Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Bowel incontinence, Elevated uri... |
ORPHA:3299 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Death in infancy, Autoimmune thrombocytopenia, Sple... |
OMIM:617514 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:300991 |
| Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... |
ORPHA:95717 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... |
OMIM:615505 |
| 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 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
| Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171420 |
| Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
| Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interst... |
OMIM:612387 |
| Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... |
ORPHA:178320 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... |
ORPHA:411703 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
| Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Polydipsia, Polyphagia |
OMIM:615986 |
| Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
| Senior-Boichis Syndrome |
|
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... |
ORPHA:84081 |
| Immunodeficiency 48 |
|
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczem... |
OMIM:269840 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis |
OMIM:615994 |
| Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weight proteinuria, ... |
ORPHA:411634 |
| Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Diarrhea, Abnormal blood ion concentra... |
ORPHA:173 |
| Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
| Avian Influenza |
|
Respiratory distress, Nonproductive cough, Tachypnea, Leukopenia, Conjunctivitis, Cough, Infectio... |
ORPHA:454836 |
| Panhypophysitis |
|
Hyponatremia, Decreased serum testosterone concentration, Orthostatic hypotension, Decreased circ... |
ORPHA:95513 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephri... |
ORPHA:94080 |
| Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys... |
ORPHA:133 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Sensorineur... |
ORPHA:52368 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic e... |
OMIM:617638 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abn... |
OMIM:620233 |
| Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Tularemia |
|
Respiratory distress, Brain abscess, Abnormal pulmonary thoracic imaging finding, Skin rash, Pneu... |
ORPHA:3392 |
| Denys-Drash Syndrome |
|
Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma |
ORPHA:220 |
| Pediatric-Onset Graves Disease |
|
Hepatomegaly, Hyperactivity, Atrial fibrillation, Puberty and gonadal disorders, Congestive heart... |
ORPHA:525731 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
| Immunodeficiency 13 |
|
Lymphopenia, Nasal polyposis, Recurrent upper respiratory tract infections, Bronchiolitis obliter... |
OMIM:615518 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary art... |
ORPHA:2414 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Nasal polyposis, Bronchiectasi... |
OMIM:606763 |
| Mercury Poisoning |
|
Tachycardia, Anorexia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury, Episodic vomi... |
ORPHA:330021 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
| Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Anorexia, Myocarditis, Splenomegaly... |
ORPHA:549 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroi... |
ORPHA:90065 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl... |
OMIM:234810 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Splenomegaly, Cough, Abnormal pattern of ... |
ORPHA:77260 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... |
ORPHA:244 |
| Aspergillosis |
|
Sinusitis, Diffuse reticular or finely nodular infiltrations, Cough, Neutropenia, Infectious ence... |
ORPHA:1163 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci... |
ORPHA:90791 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Go... |
ORPHA:95716 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Cardiac arrest, Vomiting, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618235 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... |
OMIM:614370 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper... |
OMIM:614736 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Dilated cardiomyopathy, Micropenis, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618815 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir... |
OMIM:613095 |
| Cln3 Disease |
|
Aggressive behavior, Increased circulating androgen concentration, T-wave inversion, Bradycardia,... |
ORPHA:228346 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy... |
OMIM:615745 |
| Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia |
ORPHA:2111 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Secretory diarrhea, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin syste... |
OMIM:214700 |
| Immunodeficiency 50 |
|
Recurrent respiratory infections, Lymphopenia, Eczema, Neutropenia |
OMIM:300988 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Death in infancy, Splenomegaly, Leukocytosis, Intraalveolar pho... |
OMIM:618042 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap... |
ORPHA:199241 |
| Acute Intermittent Porphyria |
|
Dark urine, Hyponatremia, Renal insufficiency, Tachycardia, Restlessness, Dysuria, Urinary incont... |
ORPHA:79276 |
| Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Gastritis, N... |
ORPHA:31826 |
| 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 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Anorexia, Lacticacid... |
ORPHA:3008 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco... |
OMIM:618913 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:218030 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
| Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... |
OMIM:123550 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
| Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Recurrent otitis media, Respiratory distress |
OMIM:615993 |
| Porphyria Variegata |
|
Hyponatremia, Neurogenic bladder, Tachycardia, Abnormal circulating porphyrin concentration, Chro... |
ORPHA:79473 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia |
OMIM:609924 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... |
OMIM:619220 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... |
ORPHA:567548 |
| Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia, Achalasia |
OMIM:615750 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
| Senior-Loken Syndrome |
|
Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting |
OMIM:613743 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Hypertension, Abnormal renal corticomedullary diff... |
OMIM:616733 |
| Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Bowel incontinence, Congestive ... |
ORPHA:682 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Adrenal hypoplasia, Hyperkalemia, Vomiting, Adrenal insufficiency |
OMIM:240200 |
| Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Hyperkalemia, Arrhythmia, Elevated creatine kinase after exercise, Acute kidney in... |
ORPHA:57 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Hyperalaninemia, Bradycardia |
OMIM:614654 |
| Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Orthostatic hypotension, Decreased circulating cortisol level, ... |
ORPHA:199299 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... |
ORPHA:747 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Hyperten... |
OMIM:615238 |
| Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis medi... |
OMIM:604571 |
| Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Cough, Wheezing... |
OMIM:613808 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Pericardial effusion, Elevated circulating thyroid-... |
OMIM:618183 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Cough,... |
OMIM:613807 |
| Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Nephrotic syndrome, Hypertension, Type I diabetes mellitus, Abnormal mitral valve mo... |
ORPHA:1192 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu... |
OMIM:607594 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch... |
OMIM:615500 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
| Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... |
ORPHA:137914 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Glutaric Aciduria Iii |
|
Hyperthyroidism, Glutaric aciduria, Diarrhea, Hypertension, Vomiting, Goiter |
OMIM:231690 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
| Niemann-Pick Disease, Type B |
|
Recurrent respiratory infections, Bone-marrow foam cells, Dyspnea, Thrombocytopenia, Splenomegaly... |
OMIM:607616 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Crescentic glomerulonephritis, Ar... |
OMIM:616414 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Hypertension,... |
ORPHA:280356 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Hypertension, Pancreatitis |
ORPHA:79084 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... |
ORPHA:2257 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... |
OMIM:615482 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Neonatal death, Death in infancy |
OMIM:300219 |
| Fabry Disease |
|
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... |
OMIM:301500 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... |
OMIM:171400 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Bradycardia, Hyperalaninemia, Hypertrophic ca... |
OMIM:614702 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Adenohypophysitis |
|
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating ... |
ORPHA:95512 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia, Death in childhood |
OMIM:609528 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytope... |
OMIM:226990 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
| Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Anorexia, Decreased urinary potassiu... |
ORPHA:85138 |
| Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| 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 |
| Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Diarrhea, Peritonitis, Abnormal heart morphology, Bloody diarrhea, Vomiting,... |
ORPHA:391673 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility,... |
OMIM:266265 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea |
ORPHA:254361 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoac... |
OMIM:617913 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Potocki-Shaffer Syndrome |
|
Nephroblastoma, Hypertension, Delayed puberty, Micropenis, Hypothyroidism |
ORPHA:52022 |
| Familial Cervical Artery Dissection |
|
Diabetes mellitus, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... |
ORPHA:36382 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Episodic hyperhidrosis, Hyperinsulinemia, Decreased circulating free f... |
ORPHA:276575 |
| Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr... |
OMIM:617091 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension |
OMIM:201910 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:608600 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Myocardial infarction, Diarrhea, Peritonitis, Elevated circulating creatini... |
ORPHA:90038 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Absent outer dynein arms, ... |
OMIM:616037 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, High-output congestive heart failure, Ventricular tachyc... |
ORPHA:423 |
| Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, I... |
ORPHA:347 |
| Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
| Variegate Porphyria |
|
Tachycardia, Porphyrinuria, Increased urinary porphobilinogen, Vomiting, Constipation, Elevated u... |
OMIM:176200 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Restrictive ventilatory defec... |
OMIM:620296 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Hepatomegaly, Myocardial infarction, Ano... |
ORPHA:3452 |
| Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... |
OMIM:619897 |
| Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:612650 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema, Increased proportion of exhausted T cells, Facial erythema |
OMIM:618307 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, Acrocyanosis |
ORPHA:896 |
| Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Prolonged P... |
ORPHA:542306 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... |
OMIM:601457 |
| Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... |
OMIM:608647 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Anorexia... |
ORPHA:3287 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:613239 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus, Respiratory insufficiency |
OMIM:601612 |
| Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating ... |
ORPHA:91355 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... |
ORPHA:320401 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit... |
ORPHA:51636 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Abnormality of the thyroid gland, Cardiomyopathy, Hypogonadism, Bradycardia, D... |
OMIM:609286 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... |
OMIM:209950 |
| Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Decreased ... |
OMIM:617092 |
| Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor |
ORPHA:2375 |
| Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tachycardia, Abnormal... |
ORPHA:1764 |
| Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Hematuria, Hypertension, Internal hemorrhage |
ORPHA:69077 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Nausea, Abnormal circulating porphyrin concentration, Abnormal fear-i... |
ORPHA:100924 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Hypertension, Agitation, Atrial septal defect, Micropenis |
OMIM:613870 |
| Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... |
ORPHA:217390 |
| Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Tubulointers... |
OMIM:617595 |
| Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... |
OMIM:618061 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr... |
ORPHA:276621 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie... |
OMIM:619126 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ... |
OMIM:614679 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
| Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop... |
OMIM:616881 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Episodic hyperhidrosis, Decreased circulating free fatty acid level, S... |
ORPHA:276556 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Livedo, Recurrent lower respiratory... |
OMIM:615139 |
| Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... |
OMIM:618620 |
| Pheochromocytoma |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171300 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Nausea, Heart block, Diarrhea, Elevated circulating creatinine concentration, Capill... |
ORPHA:542323 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Vomiting, Gastroesophageal... |
ORPHA:85450 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... |
ORPHA:57777 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Syncope, ... |
ORPHA:276580 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
OMIM:613877 |
| Retinal Dystrophy And Microvillus Inclusion Disease |
|
Death in infancy, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract... |
OMIM:619446 |
| Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Recurrent sin... |
OMIM:613193 |
| Polyarteritis Nodosa |
|
Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, R... |
ORPHA:767 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia, Neutropenia |
OMIM:257100 |
| Grange Syndrome |
|
Aortic regurgitation, Hypertension, Ventricular septal defect |
ORPHA:79094 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
| Sneddon Syndrome |
|
Intracranial hemorrhage, Nephropathy, Hypertension |
ORPHA:820 |
| Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ... |
ORPHA:97287 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... |
ORPHA:79102 |
| Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Air crescent sign, Neutropenia, Brain ... |
ORPHA:228119 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... |
ORPHA:70578 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop... |
OMIM:618986 |
| Familial Pseudohyperkalemia |
|
Hypertension, Hyperkalemia |
ORPHA:90044 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Atelectasis, Co... |
ORPHA:2314 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia, Recurrent streptococcus pneumoniae infections |
ORPHA:70592 |
| Porphyria, Acute Intermittent |
|
Tachycardia, Dysuria, Urinary incontinence, Diarrhea, Paralytic ileus, Hypertension, Urinary rete... |
OMIM:176000 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitation, Polycystic kidney... |
OMIM:173900 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Shortened QT interval, Primary h... |
ORPHA:99880 |
| 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 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein ... |
OMIM:614935 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension |
ORPHA:401945 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased nerve conduction veloci... |
ORPHA:206443 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,... |
OMIM:615444 |
| Scedosporiosis |
|
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... |
ORPHA:449280 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Ground-glass opaci... |
OMIM:300770 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Hypokalemia, Palpitations, Goiter |
OMIM:188580 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis, Abnormal erythrocyte morphology |
ORPHA:71277 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Thyroid hypoplasia, Increased circulating thyroglobulin level, Goiter, Elevated circulating thyro... |
ORPHA:90673 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Extraadrenal pheochromocytoma, Hyperhidrosis, Glomus jugular tumor, Adrenal pheochro... |
OMIM:605373 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
| Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Methemoglobinemia, Polycythemia, Exertional dyspnea |
OMIM:250800 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Acute colitis, Diabetes mellitus, Nausea, Myocarditis, Diarrhea, Pancreatit... |
ORPHA:544482 |
| Glucocorticoid Resistance, Generalized |
|
Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Shortened QT interval, Primary h... |
ORPHA:143 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
| Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
| Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
| Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Proteinuria, Epistaxis, Elevated circulating C-reactive protein concentration, Diff... |
OMIM:614034 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
| Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Hyp... |
OMIM:618886 |
| Illum Syndrome |
|
Calcinosis, Bradycardia |
OMIM:208155 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Atelectasi... |
OMIM:306400 |
| Ciliary Dyskinesia, Primary, 16 |
|
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot... |
OMIM:614017 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
| Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Ab... |
OMIM:618063 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Diarrhea, Atrioventricular block, Cardiomyopathy, Constipation, Nephropathy, Arrhyt... |
ORPHA:85447 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertensi... |
OMIM:615980 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Propionic Acidemia |
|
Hepatomegaly, Hyperammonemia, Cardiomyopathy, Organic aciduria, Constipation, Arrhythmia |
ORPHA:35 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Maturity-onset diabetes of the young, Episodic hype... |
ORPHA:324575 |
| Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase... |
ORPHA:90060 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, I... |
ORPHA:136 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... |
OMIM:615954 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... |
OMIM:219080 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a... |
OMIM:166300 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertr... |
ORPHA:1349 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood... |
ORPHA:251004 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Crackles, Dyspnea, Premature graying of hair, Decreased DLCO, Anem... |
OMIM:614742 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ... |
ORPHA:90793 |
| Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials |
ORPHA:99852 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Episodic hyperhidrosis, Adrenal pheochromocytoma, Positive regitine blocking test, Nausea, Extraa... |
ORPHA:29072 |
| Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:615184 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Renal salt wasting... |
ORPHA:90795 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Atelectasis, L... |
OMIM:618278 |
| Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
| Postorgasmic Illness Syndrome |
|
Hypertension, Xerostomia, Palpitations, Hyperhidrosis |
ORPHA:279947 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Polyuria, Diarrhea, Proximal tubulopathy, Vomiting, Type I diabetes mellitus |
OMIM:560000 |
| Pulmonary Arteriovenous Malformation |
|
Brain abscess, Cyanosis, Liver abscess, Epistaxis, Dyspnea, Hemothorax, Telangiectasia, Hypoxemia... |
ORPHA:2038 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Cyanosis |
OMIM:607578 |
| Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Hepatitis, Jaundice |
ORPHA:60 |
| Stiff Skin Syndrome |
|
Hypertension, Abnormal circulating lipid concentration, Type II diabetes mellitus, Nephrolithiasis |
ORPHA:2833 |
| Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Diarrhea, Oliguria, Hypotension, Arrhythmia, Panc... |
ORPHA:188 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
| Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Ground-glass opacification, Respiratory tr... |
ORPHA:79128 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Consti... |
ORPHA:226313 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... |
OMIM:168000 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Diarrhea, Elevated circulating creatinine conc... |
OMIM:235400 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
| Coach Syndrome 2 |
|
Hypertension, Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine... |
OMIM:619281 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B... |
OMIM:242700 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Eczema, Pneumonia, Splenomegaly, Asthma, Decreased CD4:CD8 ratio |
OMIM:607271 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroes... |
ORPHA:534 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Nephropathy, ... |
ORPHA:324 |
| Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:245650 |
| Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Ad... |
OMIM:617053 |
| Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism, Hypohidrosis |
ORPHA:181 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Splenomegaly, D... |
ORPHA:90051 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elev... |
OMIM:613327 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
| Congenital Myopathy 19 |
|
Renal atrophy, Hydronephrosis, Dysphagia |
OMIM:618578 |
| Shigellosis |
|
Hyponatremia, Anorexia, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Urethritis, Abnormal... |
ORPHA:810 |
| Riboflavin Transporter Deficiency |
|
Aggressive behavior, Hypertension, Hypogonadism, Dysphagia, Diabetes insipidus |
ORPHA:97229 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Secretory diarrhea, Vomiting |
OMIM:616069 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita... |
OMIM:202010 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Hypothyroidism, Mitral va... |
ORPHA:449291 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr... |
ORPHA:251992 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Bronchiectasis, T lymph... |
OMIM:618108 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent pneum... |
OMIM:300400 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Cyanosis, Dyspnea, Hypoxemia, Methemoglobinemia |
ORPHA:464453 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Hyperinsulinemia, Hypertension |
ORPHA:363400 |
| Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Myocarditis, D... |
ORPHA:319213 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Gastroesophageal reflux, Bradycardia |
OMIM:619814 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Vomiting, Premature adrenarche, Hyponat... |
ORPHA:90794 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... |
OMIM:600501 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Increa... |
OMIM:618459 |
| Malaria |
|
Respiratory distress, Anemia, Thrombocytopenia |
ORPHA:673 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Neutropenia |
OMIM:193670 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Episodic hyperhidrosis, Diarrhea, Elevated circulating crea... |
OMIM:223900 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Pustule, Dyspnea, Angioedema, Erythema, Myocarditis, Hepatitis, Erythrod... |
ORPHA:139402 |
| Immunodeficiency 102 |
|
Recurrent skin infections, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infecti... |
OMIM:301082 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte... |
ORPHA:77296 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Ch... |
ORPHA:1667 |
| Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Renal hypoplasia |
OMIM:615996 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Bronchiectasis, Arthritis, B lymphocytopenia, Recurrent otitis media, Re... |
ORPHA:397596 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Pericarditis,... |
OMIM:619487 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulatin... |
ORPHA:159 |
| Alport Syndrome |
|
Mesangial hypercellularity, Vomiting, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 depos... |
ORPHA:63 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... |
OMIM:604367 |
| 8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Absent circulating B cells, Neutropenia, Recurrent otitis media, Recu... |
OMIM:613501 |
| X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Goiter, Pituitary hypothyroidism... |
ORPHA:90674 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... |
OMIM:615830 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Elevated circulating C-reactive protein concentration, Anorexia, Splenomegaly, Diarrhe... |
OMIM:619381 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Anorexia, Ha... |
ORPHA:49041 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Right ventricular failure, Reduced circulating transferrin concentration,... |
ORPHA:90363 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... |
OMIM:208000 |
| Nelson Syndrome |
|
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... |
ORPHA:199244 |
| Sneddon Syndrome |
|
Hypertension, Bicuspid aortic valve, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
| Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Infectious encephalitis, Cough |
ORPHA:99825 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy... |
OMIM:619260 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroid... |
ORPHA:508 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Anhidrosis, Sinus tachycardia, Elevated circulating creatine kinase concen... |
ORPHA:466650 |
| Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Tachycardia, Recurrent myoglobinuria, Elevated circulating creatine kinase concentrat... |
ORPHA:368 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Pneumonia, Eczema, Pure... |
ORPHA:436159 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Diarrhea, Hypertension, Pheochromocytoma, Adr... |
ORPHA:139411 |
| Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Bradycardia, Hyperammonemia |
OMIM:610015 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
| Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Impulsivity, Ectopic kidney, Bowel inc... |
ORPHA:3027 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... |
OMIM:618394 |
| D-Glyceric Aciduria |
|
Tongue thrusting, Nonketotic hyperglycinemia, Aminoaciduria, Gastroesophageal reflux, Bradycardia... |
OMIM:220120 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Adrenal calcification, Renal salt wasti... |
ORPHA:275761 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Nasal polyposis, Decreased nasal nitric oxide, Bronchiectasis, ... |
OMIM:620197 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
ORPHA:280679 |
| Overlap Myositis |
|
Diabetes mellitus, Abnormality of the kidney, Elevated circulating creatine kinase concentration,... |
ORPHA:206572 |
| Erythrocytosis, Familial, 1 |
|
Splenomegaly, Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
| Serotonin Syndrome |
|
Restlessness, Tachycardia, Diarrhea, Hyperhidrosis, Hypertension, Agitation, Hypotension, Acute k... |
ORPHA:43116 |
| Hereditary Methemoglobinemia |
|
Cyanosis, Methemoglobinemia, Exertional dyspnea |
ORPHA:621 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Autoim... |
OMIM:614700 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis... |
ORPHA:169160 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, Bruising susceptibility, H... |
ORPHA:231401 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Xerostomia, Oliguria, ... |
ORPHA:220393 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Diabetes mellitus, Congestive heart failure, Elevated transferrin saturation, Incre... |
ORPHA:139507 |
| Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... |
OMIM:301050 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Recurrent intrapulmonary hemorrhage, Cutis marmorata, ... |
ORPHA:183 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Erythema nodosum, Recurrent respiratory infections, Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency |
OMIM:614399 |
| Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen... |
ORPHA:1572 |
| Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Atelectasis, Dyspnea, Erythema, Myoca... |
ORPHA:728 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Neutropenia, Recurrent otitis media, Chronic sin... |
OMIM:613502 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Ventricular septal defect, Precocious puberty, Insulin... |
ORPHA:769 |
| Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Congest... |
ORPHA:247353 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T... |
OMIM:618982 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Pancreatitis, Hyperlipidemia, Nephrolithiasis, Focal segmental glomeru... |
OMIM:232200 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, Nephrocalcinosi... |
OMIM:601198 |
| Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Diarrhea, Dilated cardiomyopathy, Vomiting, Bradycardia |
OMIM:610768 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Increased circulating dehydr... |
OMIM:201810 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Abn... |
ORPHA:1215 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
| Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hepatomegaly,... |
OMIM:203800 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Hyponatremia, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Polycystic kidney dysplasia |
OMIM:600666 |
| Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Hyperhidrosis, Vomiting, Prom... |
ORPHA:466677 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Crackles, Abnormal pleura morphology, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect... |
ORPHA:210136 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Hyperhidrosis,... |
ORPHA:99827 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Hematuria, Hypertension, Second degree atrioventricu... |
OMIM:617021 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Neoplasm of the lung, Stridor, Cough |
ORPHA:142 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Air crescent sign, Colitis, Cough, Neutropenia,... |
ORPHA:73263 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con... |
OMIM:618775 |
| Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block |
OMIM:614407 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ... |
ORPHA:36234 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress |
OMIM:620011 |
| Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
| Immunodeficiency 91 And Hyperinflammation |
|
Death in infancy, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia... |
OMIM:619644 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Nephroblastoma |
|
Hematuria, Hypertension, Nephroblastoma |
ORPHA:654 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Stage 3 chronic kidney disease, Elevated circulating creatinine concentratio... |
OMIM:620366 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria |
ORPHA:100057 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Erythema, Enterocolitis, Ulcerative colitis, Decreased propor... |
OMIM:614878 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Ventri... |
ORPHA:263297 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat... |
OMIM:608184 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Chronic pancreatitis, Hyperlip... |
OMIM:232240 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Recurrent urinary tract infections, Renal insufficienc... |
ORPHA:731 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Card... |
ORPHA:3463 |
| Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass ... |
ORPHA:99931 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
| Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... |
OMIM:617180 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Anorexia, Diarrhea, Hyperammonemia, Hypertension, Agitation, Hyperuricem... |
ORPHA:134 |
| Goodpasture Syndrome |
|
Cyanosis, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Crac... |
OMIM:233450 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Chronic constipation, Episodic hypertension, Episodic vomiting |
OMIM:619483 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... |
OMIM:619752 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Congestive heart failur... |
ORPHA:79083 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Pancreatitis, Nephrolithiasis, Focal seg... |
OMIM:232220 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Stage 5 chronic kidney disease, H... |
OMIM:613159 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response, Optic atrophy, Optic disc pallor |
OMIM:609541 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric... |
OMIM:616812 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension |
OMIM:267430 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic kidney disease, St... |
ORPHA:567546 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
| Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... |
ORPHA:662 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Cognitive impairment, Dystonia, Che... |
ORPHA:309246 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Ataxia, Upper limb postural tremor, ... |
ORPHA:99027 |
| Paroxysmal Hemicrania |
|
Hypertension, Restless legs, Diabetes mellitus |
ORPHA:157835 |
| 6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Absent circulating B cells, Recu... |
OMIM:620282 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Bloody diarrhea, Hypoalbuminemia, V... |
ORPHA:99826 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Ir... |
OMIM:617864 |
| Hydroxykynureninuria |
|
Tachycardia, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Hypotension, ... |
ORPHA:79155 |
| Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis, Acrocyanosis |
ORPHA:3165 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Depression, Hearing impairment |
OMIM:620114 |
| Erdheim-Chester Disease |
|
Hydronephrosis, Renal insufficiency, Polydipsia, Dysuria |
ORPHA:35687 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
OMIM:300845 |
| Farber Disease |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Thrombocytopenia, Recurrent... |
ORPHA:333 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Polydipsia |
ORPHA:3157 |
| Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... |
OMIM:241150 |
| Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
| Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia, A... |
ORPHA:40366 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin-resistant diabetes m... |
ORPHA:79086 |
| Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ventricular septal d... |
ORPHA:411709 |
| Immunodeficiency 40 |
|
Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, Pulmonary infiltrates, ... |
OMIM:616433 |
| Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:603373 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... |
ORPHA:911 |
| Juvenile Paget Disease |
|
Hypertension, Hyperuricemia |
ORPHA:2801 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Osteomyelitis, Skin rash, Neutrophilia, Abscess, Pustule, Splenomegaly, Pul... |
OMIM:612852 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hyperhidrosis, Hypertension, Gastroes... |
OMIM:614653 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia, Abnormal renal cor... |
OMIM:617397 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi... |
OMIM:243700 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Bronchiectasis, Recurrent otit... |
OMIM:618523 |
| Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, E... |
ORPHA:247691 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
| Yellow Fever |
|
Shock, Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase conc... |
ORPHA:99829 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal telangiectasia |
OMIM:620157 |
| Melioidosis |
|
Foot osteomyelitis, Brain abscess, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infe... |
ORPHA:31202 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea... |
ORPHA:276 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy, Difficulty walking |
ORPHA:320406 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent upper respiratory tract infecti... |
OMIM:614868 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Elevated urinary cate... |
OMIM:115310 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Throm... |
ORPHA:292 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:601455 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... |
OMIM:618282 |
| Primary Progressive Freezing Gait |
|
Hypertension, Restless legs, Urinary incontinence, Dysphagia |
ORPHA:75567 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiting, Male hyp... |
ORPHA:91347 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Anorexia, Chronic kidney disease, Delayed puberty, Renal... |
ORPHA:330015 |
| Immunodeficiency 92 |
|
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor... |
OMIM:619652 |
| Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Ne... |
ORPHA:37042 |
| Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Renal insufficiency, Membranoproliferative glomerulonephritis, Prote... |
ORPHA:91139 |
| Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia, Oral-pharyngeal dysphagia |
ORPHA:221098 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le... |
ORPHA:3226 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperkalemia, Increased ... |
ORPHA:90790 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
| Tay-Sachs Disease |
|
Psychomotor deterioration, Cherry red spot of the macula, Exaggerated startle response, Dementia |
OMIM:272800 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia, Polydipsia |
ORPHA:537 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenom... |
ORPHA:97289 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Epistaxis, Conges... |
ORPHA:727 |
| Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal pulmonary thoracic imaging finding, Cyanosis, Orthopne... |
ORPHA:980 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Partial development of the penile shaft, Gastroesophageal reflux, Bradycardia |
OMIM:608800 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Hyperh... |
ORPHA:860 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... |
OMIM:218700 |
| Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated he... |
OMIM:617253 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Nephrolithiasis, Increased circulating ACTH level, Hypertension, Hypokalemia |
OMIM:219090 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis |
OMIM:301080 |
| Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Transient ischemic attack, Abnormality of thyroid physiology, Minimal change glomeru... |
ORPHA:1830 |
| Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest... |
ORPHA:538 |
| Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Skin rash, Recurrent pharyngitis, Myocarditis, Erythema, Leukocytosis... |
ORPHA:829 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Tachycardia, Proteinuria, Abnormal circulating fatty-acid concentration, Diarrhea, ... |
ORPHA:263455 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Emotional lability, Ch... |
OMIM:608643 |
| Immunodeficiency 77 |
|
Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess |
OMIM:619223 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Secundum atrial septal defect, Hy... |
OMIM:608688 |
| Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... |
ORPHA:31204 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Diarrhea, Elevated urinary dopamine level, Abnormality of u... |
OMIM:256700 |
| Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Recurrent upper respiratory tract infections, B lymphocytopenia, Pneumonia, Chronic bronchitis |
OMIM:614069 |
| Hypokalemic Periodic Paralysis |
|
Impaired myocardial contractility, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated ... |
ORPHA:681 |
| Hartsfield Syndrome |
|
Hypospadias, Gonadotropin deficiency, Micropenis, Hypernatremia, Diabetes insipidus |
OMIM:615465 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress |
OMIM:615042 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
| Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Diabetes mellitus, Hyperhidrosis |
OMIM:184850 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Sideroblastic anemia, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Splenomegaly, Congestive heart failure, Increased total bili... |
ORPHA:90037 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
OMIM:211530 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... |
OMIM:618528 |
| Wagro Syndrome |
|
Proteinuria, Aggressive behavior, Hypertension, Agitation, Compulsive behaviors, Nephroblastoma, ... |
OMIM:612469 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Death in infancy, Progeroid facial appearance, Atelectasis, Recurrent pneumonia... |
OMIM:613177 |
| Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Nephrotic syndrome, Hypertension, Hypoplasia o... |
ORPHA:110 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Hypospadias, Bradycardia |
OMIM:619272 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Thrombocytopenia, Death in childhood |
OMIM:615597 |
| Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
| Methylcobalamin Deficiency Type Cble |
|
Glomerulopathy, Hypomethioninemia, Hemolytic-uremic syndrome, Hyperhomocystinemia, Hypertension, ... |
ORPHA:2169 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea |
ORPHA:2759 |
| 22Q11.2 Duplication Syndrome |
|
Urethral stenosis, Compulsive behaviors, Attention deficit hyperactivity disorder, Displacement o... |
ORPHA:1727 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Normocytic anemia, Hemolytic anemia, Macrocytic anemia, R... |
OMIM:615512 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno... |
ORPHA:79644 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Jaundice, Neutropen... |
ORPHA:1959 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Hyperinsulinemia, Hyperhidrosis, Agitation, Pancreatic islet-cell hyperplasia, Hyper... |
ORPHA:276608 |
| Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... |
OMIM:620014 |
| Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Hypochromic microcytic anemia, Crohn... |
OMIM:619632 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
| Letterer-Siwe Disease |
|
Seborrheic dermatitis, Dyspnea, Jaundice, Thrombocytopenia, Pulmonary infiltrates, Hepatosplenome... |
OMIM:246400 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Bowel incontinence, Dysphagia, Pollakisuria, Hypertension, Compulsive behaviors, Hypotension, Uri... |
ORPHA:93256 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Anorexia, Hepatosplenomegaly, Nephrocalcinosis, Hypokalemia, Distal renal tubular ac... |
OMIM:611590 |
| Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... |
OMIM:615952 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Diabetes mellitus, Myocardial infarction, Splenomegaly, Hy... |
ORPHA:90041 |
| Coach Syndrome 1 |
|
Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Splenomegaly, Multiple small medull... |
OMIM:216360 |
| Extracranial Carotid Artery Aneurysm |
|
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteriti... |
ORPHA:494424 |
| Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine, Increased le... |
OMIM:215600 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Polyuria, Diarrhea, Hypertension, Pulmonary arteri... |
OMIM:606721 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
| Relapsing Fever |
|
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Diarrhea, Elevated... |
ORPHA:91547 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Hashimoto thyroiditis |
ORPHA:97285 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
| Q Fever |
|
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditi... |
ORPHA:781 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis |
OMIM:619797 |
| Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cholangitis, Pulmonary embolism, Colitis, Cough, Neutrophilia, Angioedema, ... |
ORPHA:3260 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Jaundice, Pulmonary hypoplasia, Neonatal death, Hepatic periportal necrosis |
OMIM:231680 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Chronic bronchitis, Reduced natural kill... |
OMIM:242860 |
| Familial Cerebral Saccular Aneurysm |
|
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage |
ORPHA:231160 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis... |
ORPHA:183675 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
| Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis |
OMIM:618648 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Atrial septal defect, Hyperactivity, Hypoparathyroidism, Hypospadias, Ventric... |
ORPHA:209905 |
| Arteriosclerosis, Severe Juvenile |
|
Hypertension, Chronic kidney disease, Myocardial infarction, Delayed puberty |
OMIM:208060 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis |
ORPHA:444013 |
| Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Hyperhidrosis, Displacement of... |
ORPHA:1329 |
| Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
| Tetraploidy |
|
Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... |
ORPHA:913 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Vasculitis in the skin, Lymphadenitis, Salmonella osteomyelitis, Pneumonia |
ORPHA:319552 |
| Thrombocytopenia 5 |
|
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... |
OMIM:616216 |
| Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections |
OMIM:619218 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated circulating... |
ORPHA:26793 |
| Graft Versus Host Disease |
|
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ja... |
ORPHA:39812 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
| Ppoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Hypercalcemia, Anorexia, Eleva... |
ORPHA:97278 |
| Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Tachycardia, Hyperthyroidism, Increas... |
OMIM:609152 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertensio... |
ORPHA:258 |
| Williams-Beuren Region Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Epistaxis, Splenomegaly, Hypertension, Mitral regurgitation, Pulmonary arterial hyp... |
OMIM:230800 |
| Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
| Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Hypertension |
OMIM:603903 |
| Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Dec... |
ORPHA:447 |
| Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Mechanical ileus, Tricuspid stenosis, Anorexia, Heart murmur, Protracted diarrhea, ... |
ORPHA:100079 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:590 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia |
OMIM:618253 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... |
OMIM:604278 |
| Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Myocardial infarction, Myoca... |
ORPHA:892 |
| Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent... |
OMIM:300257 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Diarrhea, Xerostomia, Hematochezia, Hypokalemia, Vomiting, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
| Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
| Immunodeficiency 58 |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Eczema, Allergic rhiniti... |
OMIM:618131 |
| Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Bradycardia, Mildly elevated creatine kinase |
OMIM:620351 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Th... |
OMIM:617303 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary... |
ORPHA:653 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Premature graying of hair, Pulmonary fibrosis, Emphysema, Lymphopenia, Anemia |
OMIM:620365 |
| Omenn Syndrome |
|
Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Erythroderma, Abnormal lymphocy... |
ORPHA:39041 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop... |
OMIM:613179 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu... |
ORPHA:363618 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Gastroparesis, Hyperammonemia, Hypertension, 3-Methylglutaconic aciduria, Arrhythmia... |
OMIM:614052 |
| Proximal Spinal Muscular Atrophy |
|
Gastroparesis, Constipation, Gastroesophageal reflux, Bradycardia, Dysphagia, Atrial septal defect |
ORPHA:70 |
| Listeriosis |
|
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ... |
ORPHA:533 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Diabetes mellitus, Hypercalcem... |
ORPHA:97283 |
| Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia, Pulmonary... |
ORPHA:3309 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
| Immunodeficiency 43 |
|
Recurrent respiratory infections, Lung abscess, Bronchiectasis, B lymphocytopenia, Organizing pne... |
OMIM:241600 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Nephrocalcinosis, Hypokalemia, Vomiting, Distal renal tubular acidosis |
OMIM:602722 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, S... |
OMIM:603553 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
| Encephalitis Lethargica |
|
Bradycardia, Urinary incontinence, Bowel incontinence |
ORPHA:83600 |
| Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Dyspnea, Angioedema, Emphysema, Splenomegaly, Uveitis, Restrictive venti... |
ORPHA:36412 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
| Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Hydronephrosis, Dysphagia |
OMIM:222300 |
| Alg8-Cdg |
|
Hyponatremia, Diarrhea, Vomiting |
ORPHA:79325 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... |
ORPHA:99104 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Recurrent aspiration pneumonia |
OMIM:619971 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Eczema, Tachypnea, Keratoconjunctivitis, Thrombocytopenia, Perioral eczema |
ORPHA:79242 |
| Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
| Infantile Krabbe Disease |
|
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic... |
ORPHA:206436 |
| Odontochondrodysplasia |
|
Respiratory distress, Death in infancy, Patent ductus arteriosus |
ORPHA:166272 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| Vipoma |
|
Hepatomegaly, Diabetes mellitus, Hypercalcemia, Anorexia, Follicular thyroid carcinoma, Elevated ... |
ORPHA:97282 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... |
ORPHA:293987 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... |
OMIM:616100 |
| Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Transient ischemic attack, Elevated circulating thyroid-stimula... |
OMIM:242900 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Atrioventricular block, Mi... |
ORPHA:371428 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu... |
ORPHA:141127 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia |
OMIM:612776 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ... |
OMIM:603554 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
| Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Carcinoid tumor, Internal hemorrhage, H... |
ORPHA:805 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Inflammation of the large intestine, Hypothyroidism, Tubulointerstitial fibrosi... |
ORPHA:79259 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
| Granulomatosis With Polyangiitis |
|
Elevated circulating C-reactive protein concentration, Abnormality of the hypothalamus-pituitary ... |
ORPHA:900 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy |
OMIM:184260 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... |
ORPHA:555874 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's... |
OMIM:619705 |
| Grfoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Hypercalcemia, Anorexia, Eleva... |
ORPHA:97261 |
| Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea |
OMIM:617577 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurrent upper respiratory tract i... |
OMIM:602450 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... |
ORPHA:443811 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Posteriorly rotated ears, Exaggerated startle response, Ataxia, Low-set ears |
OMIM:618598 |
| Alagille Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Renal hypoplasia/aplasia, Ab... |
ORPHA:52 |
| Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
| Postinfectious Vasculitis |
|
Cerebral vasculitis, Abnormal circulating protein concentration, Membranoproliferative glomerulon... |
ORPHA:48435 |
| Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Tremor, Inability to walk, Optic atrophy, Dys... |
ORPHA:845 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension, Hypothyroidism, Transient hyperphenylalaninemia, Compulsive behaviors |
ORPHA:98808 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Pulmonar... |
OMIM:608013 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Vomiting, Bradycardia |
ORPHA:565624 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Abnormal left ventricular function, Aminoaciduria, Vomiting, Hyp... |
OMIM:619991 |
| Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... |
OMIM:615207 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis, Dysphagia |
OMIM:618494 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Lassa Fever |
|
Shock, Diarrhea, Oliguria, Dysphagia |
ORPHA:99824 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Eryth... |
ORPHA:420741 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Patent ductus arteriosus, Aortopulmonary window, Pulm... |
ORPHA:99050 |
| Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... |
ORPHA:99106 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, Progressive neurologic ... |
ORPHA:206448 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Splenomegaly, Patent ductus arteriosus, Telangiectasia |
OMIM:608799 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... |
ORPHA:169105 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyo... |
OMIM:610505 |
| Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Splenomegaly, Patent ductus arteriosus, Respiratory insufficiency, Pulmonary hypopla... |
OMIM:269860 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
| Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:79443 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Monosomy 18P |
|
Hypertension, Hypothyroidism |
ORPHA:1598 |
| Cerebrotendinous Xanthomatosis |
|
Resting tremor, Optic disc pallor, Short attention span, Ataxia, Abnormal auditory evoked potenti... |
ORPHA:909 |
| Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Proteinuria, Ventricular septal defect, Abn... |
ORPHA:2162 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Tubulointerstitial nephritis, Leukopenia, Neutropenia, Pancreatitis, Thromb... |
OMIM:251000 |
| Poliomyelitis |
|
Anorexia, Paralytic ileus, Hypertension, Hypovolemic shock, Agitation, Vomiting, Hypotension, Dys... |
ORPHA:2912 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Severe B lymphocytopenia, ... |
OMIM:102700 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension, Hypothyroidism |
OMIM:617763 |
| Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis |
OMIM:179613 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
| Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Cheilitis, Bronchiectasis, Death in adolescence, Recurrent ... |
OMIM:615468 |
| Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
| Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur, Bacterial endocarditis |
ORPHA:1054 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Hypertension, Renal hypoplasia, Absence of renal corticomedullary ... |
OMIM:619758 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
| Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
| Stt3B-Cdg |
|
Respiratory distress, Thrombocytopenia |
ORPHA:370924 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
| Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Diabetes mellitus, Hypercalcem... |
ORPHA:97280 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ... |
OMIM:131100 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Retinal telangiectasia |
OMIM:620155 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Brain abscess, Respiratory failure, Recurrent otitis media, ... |
OMIM:616482 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Chylothorax, Pleural effusion, Anemia, Pulmonary edema |
OMIM:617300 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Conjunctiviti... |
OMIM:601495 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Jaun... |
ORPHA:79124 |
| Diabetic Embryopathy |
|
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:1926 |
| Hypophosphatasia |
|
Anemia, Emphysema, Respiratory insufficiency |
ORPHA:436 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia |
ORPHA:3240 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Brucellosis |
|
Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis... |
ORPHA:1304 |
| Alg12-Cdg |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Hypospadias, Muscular ventricular sep... |
ORPHA:79324 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
| Tetrasomy 15Q26 |
|
Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... |
ORPHA:365 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
| Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... |
ORPHA:331235 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic lymphatic leu... |
OMIM:616005 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Exaggerated startle response, Broad-based gait, Ataxia, External ear malfor... |
ORPHA:438216 |
| Kury-Isidor Syndrome |
|
Hydronephrosis, Attention deficit hyperactivity disorder |
OMIM:619762 |
| Visceral Myopathy 1 |
|
Megacystis, Urinary retention, Dysphagia, Vesicoureteral reflux, Hydronephrosis |
OMIM:155310 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Self-mutilation, Hydronephrosis, Aggressive behavior |
ORPHA:364028 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Aggressive behavior, Self-mutilation, Rena... |
ORPHA:261494 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... |
ORPHA:536467 |
| Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Thrombocytopenia, Hypopnea, Leukopenia, Anemia, Microangio... |
ORPHA:2330 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitation |
OMIM:261990 |
| Joubert Syndrome 37 |
|
Micropenis, Hydronephrosis |
OMIM:619185 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
OMIM:201750 |
| Prader-Willi Syndrome |
|
Diabetes mellitus, Gastroparesis, Decreased response to growth hormone stimulation test, Precocio... |
ORPHA:739 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia |
OMIM:202650 |
| Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Dyspnea, Leuko... |
ORPHA:293173 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
OMIM:151660 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
| Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Episodic respirator... |
ORPHA:1199 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... |
ORPHA:402075 |
| Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Abnormal circulating cholesterol concentration, A... |
ORPHA:399 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypertension, Diabetes mellitus, Hypercholesterolemia, Pancreatitis |
ORPHA:69663 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia |
OMIM:221400 |
| Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:617729 |
| Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Cough, Morbilliform rash, Abscess, Pulmonary inf... |
ORPHA:228123 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Dyspnea, Thrombocytopenia, Hepatic necrosis, Premature graying of hair, Leukopen... |
OMIM:127550 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemi... |
OMIM:274150 |
| Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ventricular septal defect, Renal cyst |
OMIM:614424 |
| Oculopharyngodistal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... |
ORPHA:98897 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
| Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Cyanosis, Tachypnea |
ORPHA:3426 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia... |
ORPHA:2688 |
| Sandhoff Disease |
|
Exaggerated startle response, Orthostatic hypotension, Ataxia, Progressive psychomotor deteriorat... |
OMIM:268800 |
| Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
| Alexander Disease |
|
Diabetes mellitus, Sudden cardiac death, Bowel incontinence, Precocious puberty, Hyperhidrosis, H... |
ORPHA:58 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
| Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Aortic valve ... |
ORPHA:56 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
| Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Ecz... |
OMIM:615816 |
| Spondyloenchondrodysplasia |
|
Proteinuria, Decreased response to growth hormone stimulation test, Raynaud phenomenon, Vasculiti... |
ORPHA:1855 |
| Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Diarrhea, Hypohidrosis, Hypertension, Increased b... |
ORPHA:90321 |
| Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Renal artery aneurysm, Portal hypertension, Elevated circulating C-reactive protein... |
OMIM:615688 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ... |
OMIM:211900 |
| Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Hyperphosphaturia, Hyperthyroidism, Elevated circulating growth ho... |
ORPHA:562 |
| Trisomy 13 |
|
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis |
ORPHA:3378 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Acute myeloid leukemia, Neonatal respiratory distress, Pancytopenia, Myocar... |
OMIM:260400 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
| Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Anorexia |
ORPHA:514 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Recurrent pneumonia, Epididymitis, Bronchiectasis, Wheezing, ... |
OMIM:300755 |
| Xfe Progeroid Syndrome |
|
Hypertension, Renal insufficiency, Proteinuria, Hypoalbuminemia |
OMIM:610965 |
| Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor |
OMIM:207950 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Poor wound healing, Progeroid facial appearance, Dyspnea, Bronchiect... |
OMIM:123700 |
| Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Pure red cell aplasia, Dyspnea, Hepatitis, Rheumatoid arthritis, Acro... |
ORPHA:589 |
| Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... |
ORPHA:185 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydronephrosis |
OMIM:220210 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Zttk Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Polyuria, Unilateral renal agenesis, Chronic dia... |
OMIM:617140 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Pulmonary hypoplasia |
OMIM:151210 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia |
OMIM:300484 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Recurrent pneumonia, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:616271 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Neutropenia, Restrictiv... |
OMIM:607944 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab... |
OMIM:187300 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... |
ORPHA:158684 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Elevated circu... |
OMIM:619573 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Macrocytic anemia, Granulocytopenia |
OMIM:606164 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Hypocalcemia, Hypothyroidism, ... |
ORPHA:699 |
| Livedoid Vasculopathy |
|
Diabetes mellitus, Telangiectasia of the skin, Hyperhomocystinemia, Hypertension, Ischemic stroke... |
ORPHA:542643 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Hypoplastic spleen |
ORPHA:89844 |
| Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Telangiectasia of... |
ORPHA:221 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Decreased serum insulin-like growth factor 1, Ventricular septal defec... |
OMIM:614921 |
| Gaucher Disease, Type Ii |
|
Death in infancy, Apnea, Thrombocytopenia, Splenomegaly, Stridor, Cough, Bronchiolitis, Recurrent... |
OMIM:230900 |
| Suleiman-El-Hattab Syndrome |
|
Hydronephrosis |
OMIM:618950 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Atypical or p... |
ORPHA:83471 |
| Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
| Werner Syndrome |
|
Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Hype... |
ORPHA:902 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Poor wound... |
OMIM:608203 |
| Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... |
ORPHA:314588 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Bradycardia, Vomiting, Nephr... |
ORPHA:97297 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis |
ORPHA:261290 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Epistaxis, Pericardial effusion, Increased circulating ferrit... |
ORPHA:167 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... |
OMIM:158310 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia |
OMIM:618056 |
| Hardikar Syndrome |
|
Vomiting, Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Bladder exstrophy, H... |
OMIM:301068 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalize... |
OMIM:227810 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... |
ORPHA:308552 |
| Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Dyspnea, Iridocyclitis, Splenomegaly, Bronchiectasis, Abnormal pulmonary interstiti... |
OMIM:181000 |
| Koolen-De Vries Syndrome |
|
Ureteral duplication, Overfriendliness, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal... |
ORPHA:96169 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Hematemesis, Increased circulating ferritin concentration, Peri... |
OMIM:615846 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis, Granulocytopenia,... |
ORPHA:454831 |
| Congenital Fibrinogen Deficiency |
|
Splenic rupture, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Decreased nasal nitric oxide, Bronchiectasis, Productive cough |
OMIM:615434 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Chronic irritative conjunctivitis, Episodic respiratory distress, Strido... |
ORPHA:141083 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Recurrent otitis media, Patent ductus arteriosus, Cyanosis |
ORPHA:3304 |
| Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
| Meckel Syndrome 14 |
|
Cardiorespiratory arrest, Pneumothorax, Pulmonary hypoplasia, Cyanosis |
OMIM:619879 |
| Hurler Syndrome |
|
Hepatomegaly, Angina pectoris, Abnormal heart valve morphology, Splenomegaly, Chronic diarrhea, C... |
ORPHA:93473 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Hypospadias, Hydronephrosis |
OMIM:616897 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... |
OMIM:614947 |
| Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... |
ORPHA:3342 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormal lung morphology, Anemia |
ORPHA:54251 |
| Japanese Encephalitis |
|
Hyponatremia, Anorexia, Diarrhea, Vomiting, Inappropriate antidiuretic hormone secretion |
ORPHA:79139 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Nephritis... |
ORPHA:2552 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Vesicoureteral reflux, Micropenis, Hydronephrosis |
OMIM:301056 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Skin rash, Thrombocytopenia, Macular purpura |
ORPHA:49566 |
| Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Hyperlipidemia, Renal steatosis, He... |
ORPHA:391665 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Hydronephrosis, Stereotypical hand wringing |
OMIM:619179 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood |
OMIM:620278 |
| 9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:531151 |
| Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Pneumonia, Bronc... |
ORPHA:125 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Urinary incontinence, Sinus bradycardia, Chronic constipation, Gastroesophageal reflux, Dysphagia... |
OMIM:619482 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Atrial septal defect, Hypertension, Pulmonary arterial hypertension, Hypoperistalsis |
OMIM:613834 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Peritonitis, Erythema, Urticaria, Arthritis, Recurrent aphthous stomatitis, Acrocyanosis, Purpura |
ORPHA:343 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
| Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Self-injurious behavior, Hydronephrosis |
ORPHA:568 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Hydronephrosis, Poly... |
OMIM:608836 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:619383 |
| Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... |
OMIM:602668 |
| Nestor-Guillermo Progeria Syndrome |
|
Left atrial enlargement, Decreased serum leptin, Right bundle branch block, Hypertension, Mitral ... |
OMIM:614008 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis, Methemoglobinemia |
OMIM:250790 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... |
ORPHA:2237 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251110 |
| Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis |
ORPHA:2437 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections |
ORPHA:329178 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Splenomegaly, Chronic otitis media, Thrombocytopenia |
ORPHA:169090 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
| Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Erythema, Oligoarthritis |
OMIM:614204 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... |
OMIM:614527 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
| Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Increased total bilirubin |
ORPHA:90036 |
| Acute Transverse Myelitis |
|
Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Subara... |
ORPHA:139417 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:488613 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
| Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Hyperactivity, Abnormal heart valve morphology, Abnormal pulmonary valve morphology... |
ORPHA:580 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia |
ORPHA:204 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency, Hepatosplenomegaly |
ORPHA:367 |
| Cockayne Syndrome A |
|
Retinal atrophy, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, ... |
OMIM:216400 |
| Double Outlet Left Ventricle |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Cyanosis, Tachypnea |
ORPHA:3427 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
| Zaki Syndrome |
|
Renal agenesis, Hydronephrosis |
OMIM:619648 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Anorexia, Pulmonary embolism, Intracranial hemorrhage,... |
ORPHA:394 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Bradycardia, Dysphagia |
OMIM:617248 |
| Poems Syndrome |
|
Thrombocytosis, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect,... |
ORPHA:2905 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Micropenis, Hydronephrosis, Attention deficit hyperactivity disorder |
OMIM:612513 |
| Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... |
ORPHA:391641 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Rec... |
OMIM:607143 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, Renal insufficiency, Hypospadias, Hydronephrosis |
OMIM:611209 |
| Igg4-Related Aortitis |
|
Hydronephrosis |
ORPHA:449400 |
| Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Nephrocalcinosis, Early onset of sexual maturation, Gastroesophageal reflu... |
OMIM:194050 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Sinusitis, Skin rash, Eczema, Pneum... |
ORPHA:811 |
| Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Aicardi-Goutieres Syndrome 1 |
|
Chilblains, Thrombocytopenia, Splenomegaly, Erythema, Prolonged neonatal jaundice, Acrocyanosis, ... |
OMIM:225750 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:608022 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... |
ORPHA:98905 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
| Smith-Lemli-Opitz Syndrome |
|
Renal cyst, Hypoalbuminemia, Vomiting, Gastroesophageal reflux, Hypocholesterolemia, Atrial septa... |
OMIM:270400 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Hepatosplenomegaly, Thrombocytopenia, Pulmonary edema |
ORPHA:79330 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Neonatal death, Aspiration pneumonia |
OMIM:619167 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
| Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... |
ORPHA:449395 |
| Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Exaggerated startle response |
ORPHA:309155 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea |
OMIM:619580 |
| Von Hippel-Lindau Syndrome |
|
Hypertension, Renal cell carcinoma, Multiple renal cysts, Pheochromocytoma, Paraganglioma |
OMIM:193300 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... |
OMIM:615574 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| 46,Xy Sex Reversal 4 |
|
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:154230 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
| Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Nep... |
OMIM:609049 |
| Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Pneumonia, Hepatosplenomegaly |
ORPHA:309288 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Hyperthyroidism, Bidirectional ventricular ectopy, Hypokalemia, Syncope, P... |
OMIM:170390 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Polysplenia, Pulm... |
OMIM:616749 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Brain abscess, Cyanosis, Nail bed ... |
OMIM:600376 |
| Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
| Achondroplasia |
|
Respiratory distress, Death in infancy, Upper airway obstruction, Pulmonary hypoplasia, Recurrent... |
OMIM:100800 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Prominent superficial veins, Dyspnea, Patent ductus arteriosus, Palmoplanta... |
ORPHA:363705 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperkalemia, Splenomegaly |
OMIM:608885 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Cough |
ORPHA:216866 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria, Dysphagia |
ORPHA:101000 |
| Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes insipidus, Hypertension, Hypog... |
OMIM:209900 |
| Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring |
OMIM:268320 |
| Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pneumonia, Erythema, Respiratory insufficiency, Urticaria, Mastocytosis |
ORPHA:2135 |
| Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Abnormal urinary color, Tachycardia, Congestive heart failure |
ORPHA:90033 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
| Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis |
ORPHA:3079 |
| Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Impulsivity, Abnormality of the urinary system, Attention deficit hyperactivity disorder, Micrope... |
ORPHA:96092 |
| Mirizzi Syndrome |
|
Dark urine, Tachycardia, Anorexia, Pancreatitis, Vomiting, Hyperbilirubinemia, Nausea |
ORPHA:521219 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress |
ORPHA:544503 |
| Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
| Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Peritonitis, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery p... |
OMIM:619351 |
| 3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydronephrosis |
ORPHA:7 |
| Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Ventricular hypertrophy, Hypertension, Ischemic stroke, Aortic valve stenos... |
OMIM:208050 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress |
OMIM:212140 |
| 22Q11.2 Deletion Syndrome |
|
Acne, Seborrheic dermatitis, Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lo... |
ORPHA:567 |
| Micro Syndrome |
|
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney |
ORPHA:2510 |
| Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
| Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis |
OMIM:610733 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea, Pulmonary edema |
OMIM:115197 |
| Developmental And Epileptic Encephalopathy 49 |
|
EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy |
OMIM:617281 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Hearing impairment |
OMIM:620327 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... |
OMIM:610655 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M... |
ORPHA:904 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Albuminuria, Aminoaciduria, Dysphagia, Renal cortical microcysts, Hydronephrosis |
OMIM:214100 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Type I diabetes mellitus, Sinus bradycardia |
OMIM:618397 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Hematuria, Syncope, Renal artery stenosis, Mic... |
ORPHA:71273 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:912 |
| Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
| Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood |
OMIM:613848 |
| Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis |
OMIM:235510 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress |
ORPHA:254913 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Partial anomalous pulmonary venous return, Cyanosis |
OMIM:617478 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251100 |
| 2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:261349 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydronephrosis, Vesicoureteral ... |
OMIM:614080 |
| Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydronephrosis |
ORPHA:2315 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Vomiting, Patent urachus |
OMIM:618252 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Cyanosis |
ORPHA:2326 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag... |
OMIM:609136 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Dysphagia, Vesicoureteral reflux, Hydronephrosis |
OMIM:618460 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Respirato... |
ORPHA:2968 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Thrombocytopenia, Patent ductus arteriosu... |
ORPHA:505248 |
| Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Gastroesophageal reflux, Co... |
OMIM:616580 |
| Tarp Syndrome |
|
Extramedullary hematopoiesis, Cyanosis, Apnea, Pulmonary hypoplasia |
ORPHA:2886 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... |
ORPHA:2473 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Macrocytic anemia, Patent ductus arteriosus, Reticulocytopenia, Steroid-res... |
OMIM:613309 |
| Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Cardiac myxoma, Renal h... |
OMIM:181270 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Optic atrophy, Retinal dysplasia |
OMIM:253800 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Hydronephrosis |
ORPHA:457193 |
| Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Hyperactivity, Impulsivity, Vesicoureteral reflux, Hydronephr... |
OMIM:610443 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor |
ORPHA:100050 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
| Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Hydronephrosis |
OMIM:616449 |
| Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
| 7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Hypospadias, Unilateral renal agenesis, Aggressive behavior, Polyph... |
ORPHA:96121 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Low-set ears |
OMIM:617301 |
| Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Diabetes mellitus, Abnormal circulating porphyrin c... |
ORPHA:101330 |
| Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... |
ORPHA:95455 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
| Al-Gazali Syndrome |
|
Hydronephrosis |
OMIM:609465 |
| Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1225 |
| Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
| Digeorge Syndrome |
|
Acne, Seborrheic dermatitis, Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruct... |
OMIM:188400 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension, Mitral valve prolapse |
OMIM:616914 |
| Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arthritis, Crohn's... |
OMIM:249100 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney |
ORPHA:2953 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Self-injuriou... |
ORPHA:847 |
| Encephalocraniocutaneous Lipomatosis |
|
Pelvic kidney, Hydronephrosis |
OMIM:613001 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
| Carpenter Syndrome 1 |
|
Hydroureter, Hydronephrosis |
OMIM:201000 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfate excretion i... |
ORPHA:217085 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Hydronephrosis |
ORPHA:541423 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Renal cyst, Microphallus, Compulsive behaviors, Vesicoureteral reflux, Hydronep... |
OMIM:618454 |
| Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, Precocious puberty, Epispadias, Hypertension, Abnormal ca... |
ORPHA:2588 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Attention deficit hyperactivity disorder, Mic... |
ORPHA:464311 |
| Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Hydronephrosis |
ORPHA:99776 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Pelvic kidney, Hydronephrosis |
OMIM:601186 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... |
OMIM:300707 |
| Acute Promyelocytic Leukemia |
|
Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Hematuria, Addictive alcohol use, Stomatitis |
ORPHA:520 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Micropenis, Abnormal repetitive mannerisms, Hydronephrosis |
OMIM:301040 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Hydronephrosis |
OMIM:104350 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Patent ductus arteriosus |
ORPHA:2519 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Cognitive impairment, Low-... |
OMIM:617527 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfate excretion i... |
ORPHA:217093 |
| Marchiafava-Bignami Disease |
|
Vomiting, Addictive alcohol use, Urinary incontinence, Aggressive behavior |
ORPHA:221074 |
| Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... |
ORPHA:963 |
| Eisenmenger Syndrome |
|
Respiratory distress, Brain abscess, Cyanosis, Increased pulmonary vascular resistance, Wheezing,... |
ORPHA:97214 |
| Cat Eye Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney |
OMIM:115470 |
| Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias, Hypertensive crisis |
ORPHA:1358 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Vesicoureteral reflux, Micropenis, Pelvic kidney, Abnormal repetitive mannerisms, Hydronephrosis |
OMIM:618653 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension |
ORPHA:1555 |
| Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... |
OMIM:146510 |
| 1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hydronephrosis, Attention deficit hyperactivity disorder |
ORPHA:250989 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Splenomegaly, Respiratory insufficiency, Respiratory failure |
OMIM:252010 |
| Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Hypospadias, Mitral valve prolapse, Hypertension, Mi... |
OMIM:611962 |
| Tarp Syndrome |
|
Hydronephrosis, Horseshoe kidney |
OMIM:311900 |
| Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
OMIM:616737 |
| Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
| Fryns Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:2059 |
| Cockayne Syndrome |
|
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate... |
ORPHA:191 |
| Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
| 15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis |
ORPHA:314585 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... |
OMIM:614748 |
| 15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hyperammonem... |
OMIM:220111 |
| Kniest Dysplasia |
|
Respiratory distress, Recurrent otitis media, Tracheomalacia |
OMIM:156550 |
| Cystic Fibrosis |
|
Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced vital capacity, R... |
OMIM:219700 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis |
ORPHA:35173 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Cyanosis |
ORPHA:488627 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
| Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... |
ORPHA:314769 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
| Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
| Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension |
ORPHA:536 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, D... |
OMIM:616973 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Hydronephrosis |
OMIM:617798 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Abn... |
ORPHA:464306 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Low-set ears, Dystonia, Cherry red spot of the macula, Macrotia, He... |
ORPHA:79255 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micropenis, Hydronephrosis |
OMIM:235255 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Male urethral meatus stenosis, Hydronephrosis, Hypospadias, Aggressive behavior |
ORPHA:464738 |
| Floating-Harbor Syndrome |
|
Restlessness, Hypospadias, Renal agenesis, Impulsivity, Aggressive behavior, Dilatation of the re... |
ORPHA:2044 |
| Cockayne Syndrome B |
|
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Decreased nerve c... |
OMIM:133540 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Transient ischemic attack, Left ventricular systolic ... |
ORPHA:51608 |
| Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Renal cyst, Hypertension, Hyperbilirubinemia, At... |
OMIM:613610 |
| Leptospirosis |
|
Respiratory distress, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Optic neuritis, Coug... |
ORPHA:509 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Patent ductus arteriosus, Anemia, Leukopenia, Thrombocytopenia |
OMIM:603467 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Myocardial infarction, Anorexia, Pituitary corticotropic cell adenoma, Pancr... |
ORPHA:99889 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Patent ductus arteriosus, Tracheomalacia |
OMIM:217980 |
| Familial Osteodysplasia, Anderson Type |
|
Hypertension, Hyperuricemia |
ORPHA:2769 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
| Pelvis-Shoulder Dysplasia |
|
Hydronephrosis |
ORPHA:2839 |
| Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... |
OMIM:100300 |
| Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis, Attention deficit hyperactivity disorder |
OMIM:617557 |
| Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:96061 |
| Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia |
OMIM:618975 |
| Isolated Osteopoikilosis |
|
Abnormality of the endocrine system, Addictive alcohol use, Abnormality of the kidney, Abnormal h... |
ORPHA:166119 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:247262 |
| Atypical Werner Syndrome |
|
Renal neoplasm, Hypertriglyceridemia, Telangiectasia of the skin, Diabetes mellitus, Abnormal cir... |
ORPHA:79474 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Micropenis, Abnormal renal morphology, Hydronephrosis |
ORPHA:1655 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Skin rash, Conjunctivitis, Eczematoid dermatitis, Hyperventilation |
ORPHA:79241 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus |
OMIM:300968 |
| Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon... |
ORPHA:249 |
| Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vesicoureteral reflux, Abnormal bladder morphology, Hydronephrosis, Bruxism |
ORPHA:453499 |
| Juvenile Polyposis Syndrome |
|
Hematochezia, Hypokalemia, Hypoalbuminemia, Diarrhea |
OMIM:174900 |
| Mgat2-Cdg |
|
Respiratory distress, Recurrent upper and lower respiratory tract infections, Patent ductus arter... |
ORPHA:79329 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
| Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Splenomegaly, Xerostomia, Stage 5 chronic kidney d... |
ORPHA:90340 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Hepatomegaly, Stage 5 chronic kidney disease, Renal cyst, Hepatosplenomegal... |
OMIM:266920 |
| Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension, Hypospadias |
OMIM:123790 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
| Distal Deletion 12Q |
|
Hyperactivity, Ectopic kidney, Self-mutilation, Polycystic kidney dysplasia, Vesicoureteral reflu... |
ORPHA:96149 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Cyanosis, Asplenia, Patent ductus arteriosus, Tota... |
OMIM:306955 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Vesicovaginal fistula, Hypertension, Gastroesophageal reflux, Atrial septal defect, Ureteropelvic... |
OMIM:300896 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Hydronephrosis |
OMIM:608779 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Megaloblastic anemia, Jaundice, Neutropenia, Stomatitis... |
ORPHA:79282 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Patent ductus arteriosus |
OMIM:612863 |
| Hallermann-Streiff Syndrome |
|
Hypertension, Hyperactivity, Pulmonary arterial hypertension, Telangiectasia |
OMIM:234100 |
| Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
| Apert Syndrome |
|
Hypertension |
ORPHA:87 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration... |
ORPHA:1018 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Congenital megaurete... |
ORPHA:280633 |
| Thakker-Donnai Syndrome |
|
Hydronephrosis |
ORPHA:1780 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
| Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling, Hydronephrosis, Bruxism, Vesicoureteral reflux, Recurrent pyelonephr... |
ORPHA:48652 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Mitral stenosis, Delayed mena... |
ORPHA:740 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Bicuspid aortic valve, High urinary gonadotropin level, Renal hypoplasia/a... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Prolonged QT interval, Bicuspid aortic valve, High urinary gonadotropin level, Renal hypoplasia/a... |
ORPHA:99228 |
| Monosomy X |
|
Prolonged QT interval, Bicuspid aortic valve, High urinary gonadotropin level, Renal hypoplasia/a... |
ORPHA:99226 |
| Turner Syndrome |
|
Prolonged QT interval, Bicuspid aortic valve, High urinary gonadotropin level, Renal hypoplasia/a... |
ORPHA:881 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Hydronephrosis |
OMIM:302960 |
| Cardiofaciocutaneous Syndrome 1 |
|
Tongue thrusting, Hydronephrosis |
OMIM:115150 |
| Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hypertension, Hydronephrosis, Exo... |
ORPHA:2750 |
| White-Kernohan Syndrome |
|
Attention deficit hyperactivity disorder, Hydroureter, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
| X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
| Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Pleural effusion, Pulmonary hypoplasia |
OMIM:620369 |
| Stromme Syndrome |
|
Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress |
ORPHA:50810 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:2092 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Secretory diarrhea, Grade II vesicoureteral reflux, Hypokalemia, Increased serum bil... |
OMIM:619377 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior,... |
ORPHA:353281 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Hydronephrosis |
ORPHA:254528 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Patent ductus arteriosus, Asplenia |
ORPHA:210122 |
| Campomelic Dysplasia |
|
Hydronephrosis |
ORPHA:140 |
| Opitz Gbbb Syndrome |
|
Hypospadias, Abnormality of the urinary system, Dysphagia, Vesicoureteral reflux, Hydronephrosis |
ORPHA:2745 |
| Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... |
ORPHA:90324 |
| Marshall-Smith Syndrome |
|
Ventricular septal defect, Premature ventricular contraction, Hypertension, Atrial septal defect,... |
OMIM:602535 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Splenomegaly, Patent ductus arteriosus, Hepatosplenomegaly, Asp... |
ORPHA:354 |
| Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Hydronephrosis |
OMIM:305620 |
| Pachyonychia Congenita |
|
Respiratory distress, Angular cheilitis |
ORPHA:2309 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Jaundice, Osteomyelitis leading to amputation due to slow healing fractures... |
OMIM:256810 |
| Blau Syndrome |
|
Hypertension, Pericarditis |
OMIM:186580 |
| Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
| Chops Syndrome |
|
Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous return, Aspiration pneumonia, ... |
OMIM:616368 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Emphysema |
OMIM:224690 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Granuloma, Infec... |
ORPHA:68 |
| Plague |
|
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegaly, Ente... |
ORPHA:707 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus, Apnea |
ORPHA:17 |
| Orofaciodigital Syndrome I |
|
Hypertension, Proteinuria, Polycystic kidney dysplasia, Abnormal heart morphology |
OMIM:311200 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Jaundice |
OMIM:617156 |
| Orofaciodigital Syndrome Ix |
|
Recurrent aspiration pneumonia |
OMIM:258865 |
| Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Hypospadias, Ureteral obstruction |
ORPHA:90652 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... |
OMIM:619522 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis |
OMIM:271520 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
| Nijmegen Breakage Syndrome |
|
Hyperactivity, Recurrent urinary tract infections, Hydronephrosis |
OMIM:251260 |
| Eec Syndrome |
|
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis |
ORPHA:1896 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Patent ductus arteriosus, Splenic cyst |
OMIM:618188 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
| Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, R... |
ORPHA:289176 |
| Dubowitz Syndrome |
|
Hypospadias, Hydronephrosis, Attention deficit hyperactivity disorder |
ORPHA:235 |
| Sarcoidosis |
|
Abnormal nasal mucosa morphology, Abnormal lung morphology, Increased T cell count, Uveitis, Tubu... |
ORPHA:797 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response, EEG with generalized slow activity |
OMIM:618367 |
| Cerebellar-Facial-Dental Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:444072 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Aspiration, Apnea, Flushing |
ORPHA:2131 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect |
OMIM:183900 |
| Cardiofaciocutaneous Syndrome |
|
Hydronephrosis |
ORPHA:1340 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... |
ORPHA:818 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus |
ORPHA:177907 |
| Neurofibromatosis, Type I |
|
Parathyroid adenoma, Hypertension, Pheochromocytoma, Renal artery stenosis |
OMIM:162200 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Overfriendliness, Recurrent urinary tract infections, Hypospadias, Fetal pyelectasis, Inappropria... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Overfriendliness, Recurrent urinary tract infections, Hypospadias, Fetal pyelectasis, Inappropria... |
ORPHA:363958 |
| Raine Syndrome |
|
Hydroureter, Hydronephrosis |
OMIM:259775 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Recurrent pneumonia, Recurrent aspiration pneumonia |
OMIM:300472 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication |
OMIM:268310 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Ureteral hypoplasia, Abnormal renal artery morphology, Hydronephrosis,... |
ORPHA:79328 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Neonatal respiratory distress, Psoriasiform dermatitis, Abnormal T cell subset distribution, Arth... |
ORPHA:221139 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema |
OMIM:219100 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Distal renal tubular ac... |
ORPHA:2785 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Muscular ventricular septal defect, Renal hypoplasia, Renal cyst, Hype... |
OMIM:210710 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... |
OMIM:129900 |
| Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Ca... |
ORPHA:3472 |
| Trisomy 18 |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:3380 |
| Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... |
OMIM:192350 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Eczema, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles |
OMIM:305100 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Patent ductus arteriosus, Keratitis |
ORPHA:1051 |
| Cousin Syndrome |
|
Hydronephrosis |
OMIM:260660 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
| Keutel Syndrome |
|
Sinusitis, Miscarriage, Recurrent bronchitis, Pulmonary artery hypoplasia, Recurrent otitis media... |
OMIM:245150 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Aspiration pneumonia |
OMIM:616430 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
| Trisomy 8P |
|
Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis |
ORPHA:264450 |
| Craniofacioskeletal Syndrome |
|
Hypospadias, Hydronephrosis |
OMIM:300712 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Leukocytosis, Panniculitis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
| Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
| Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Violent behavior, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:280000 |
| Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Hypertension, Atrial septal defect, Aortic valve... |
OMIM:139210 |
| Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ... |
ORPHA:1359 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hydronephrosis, Unilateral renal agenesis |
OMIM:308050 |
| Neurofibromatosis Type 1 |
|
Abnormality of the upper urinary tract, Abnormality of the endocrine system, Precocious puberty, ... |
ORPHA:636 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Patent duc... |
OMIM:616268 |
| Schinzel-Giedion Syndrome |
|
Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Dysphagia, Nephr... |
ORPHA:798 |
| Insulin-Resistance Syndrome Type B |
|
Skin rash, Pneumonia, Osteoarthritis, Leukopenia, Nephritis, Thrombocytopenia |
ORPHA:2298 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Hydronephrosis, Bruxism |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Vesicoureteral reflux, Hydronephrosis, Bruxism |
ORPHA:352665 |
| Apert Syndrome |
|
Hydronephrosis |
OMIM:101200 |
| 17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Precocious puberty, Renovascular hypertension, Abnormal heart morphol... |
ORPHA:97685 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocyt... |
ORPHA:83617 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Hydronephrosis, Urachus fistula |
OMIM:612541 |
| Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Micropenis, Hypospadias, Hydronephrosis |
ORPHA:163979 |
| Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Recurrent upper respiratory tract inf... |
OMIM:114290 |
| Pitt-Hopkins Syndrome |
|
Acrocyanosis, Abnormal pattern of respiration, Esophagitis, Hyperventilation |
ORPHA:2896 |
| Adnp Syndrome |
|
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections |
ORPHA:404448 |
| Mucopolysaccharidosis, Type Vi |
|
Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory de... |
OMIM:253200 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis |
OMIM:269150 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
ORPHA:487796 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Polyphagia, Renal cyst, Self-injurio... |
ORPHA:1606 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
| Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Hydronephrosis |
OMIM:229850 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Impuls... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Impuls... |
ORPHA:353277 |
| Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis, Attention deficit hyperactivity disorder |
ORPHA:2308 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1507 |
| Occipital Horn Syndrome |
|
Hydronephrosis, Bladder diverticulum, Ureteral obstruction |
OMIM:304150 |
| Frontometaphyseal Dysplasia |
|
Hydronephrosis, Urethral stenosis, Ureteral obstruction |
ORPHA:1826 |
| 3Mc Syndrome 1 |
|
Hydronephrosis |
OMIM:257920 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:615273 |
| Cornelia De Lange Syndrome 1 |
|
Thrombocytopenia, Cutis marmorata, Pneumonia, Otitis media |
OMIM:122470 |
| Chime Syndrome |
|
Hydronephrosis, Abnormality of the kidney |
ORPHA:3474 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Arthritis... |
OMIM:260920 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent respiratory infections, Apnea, Tachypnea, Recurrent aspiration pneumonia, Chronic lung ... |
ORPHA:397715 |
| Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Hyperactivity, Horseshoe kidney, Inappropria... |
ORPHA:3310 |
| Aicardi-Goutières Syndrome |
|
Myositis, Cutis marmorata, Chilblains, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, ... |
ORPHA:51 |
| Ileal Neuroendocrine Tumor |
|
Hydronephrosis |
ORPHA:100078 |
| Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Jaundice, Respiratory insufficien... |
ORPHA:646 |
| Knobloch Syndrome 1 |
|
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication |
OMIM:267750 |
| Charge Syndrome |
|
Horseshoe kidney, Attention deficit hyperactivity disorder, Compulsive behaviors, Vesicoureteral ... |
ORPHA:138 |
| Robinow Syndrome |
|
Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:97360 |
| Cardiac-Urogenital Syndrome |
|
Tachycardia, Penoscrotal hypospadias, Cor triatrium sinister, Ventricular septal defect, Coronary... |
OMIM:618280 |
| Melnick-Needles Syndrome |
|
Ureteral stenosis, Hydronephrosis |
OMIM:309350 |
| Floating-Harbor Syndrome |
|
Hypospadias, Aggressive behavior, Glandular hypospadias, Nephrocalcinosis, Congenital posterior u... |
OMIM:136140 |
| Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis, Attention deficit hyperactivity disorder, Ora... |
ORPHA:506358 |
| Degcags Syndrome |
|
Pancytopenia, Pneumonia, Congenital hypoplastic anemia, Asthma, Patent ductus arteriosus, Hepatos... |
OMIM:619488 |
| Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Pneumonia, Otitis media, Hepatosplenomegaly |
ORPHA:309282 |
| Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Respiratory tract infection, Splenomegaly, Upper airway obstr... |
ORPHA:581 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Hypohidrosi... |
OMIM:308205 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Thrombocytopenia, Aspiration pneumonia, Seborrheic dermatitis |
OMIM:301072 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use |
ORPHA:399180 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation |
ORPHA:255210 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Recurrent aspiration pneumonia |
ORPHA:73230 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
| Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Hydronephrosis |
OMIM:265380 |
| Rubinstein-Taybi Syndrome 1 |
|
Hyperactivity, Hypospadias, Impulsivity, Hydronephrosis, Self-mutilation |
OMIM:180849 |
| Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
OMIM:600383 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
| Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Ectopic kidney, Aggressive behavior, Renal hypoplasia, Compulsive behav... |
OMIM:135900 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Nephrotic syndrome, Hydronephrosis |
OMIM:601776 |
| Lacrimoauriculodentodigital Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Dysphagia |
ORPHA:2363 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2636 |
| Okamoto Syndrome |
|
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr... |
ORPHA:2729 |
| Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Prematurely a... |
OMIM:612289 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Nephrolithiasis, Dysphagia, Vesicoureteral reflux, Hydronephrosis, Stereotypical hand wringing |
ORPHA:438213 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal renal morphology, Hydronephrosis, Attention deficit hyperactivity disorder, Renal hypopl... |
ORPHA:363700 |
| Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morpholo... |
ORPHA:286 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Erythema |
ORPHA:2556 |
| Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
| Doors Syndrome |
|
Nephrocalcinosis, Abnormality of the urinary system, Hydronephrosis, Increased urine alpha-ketogl... |
ORPHA:79500 |
| Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
| Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... |
ORPHA:709 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Micropenis, Hydronephrosis, Renal duplication |
OMIM:180700 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydronephrosis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract |
ORPHA:2273 |
| 8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Patent ductus arteriosus, Abnormal lung lobation |
ORPHA:508488 |
| Osteogenesis Imperfecta, Type Vii |
|
Hydronephrosis |
OMIM:610682 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia |
ORPHA:3404 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Nasal flaring |
ORPHA:466943 |
| Genitopatellar Syndrome |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Dysphagia |
OMIM:606170 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney |
OMIM:305600 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Splenomegaly, Patent ductus arteriosus |
OMIM:617088 |
| Charge Syndrome |
|
Renal agenesis, Self-mutilation, Renal hypoplasia, Horseshoe kidney, Dysphagia, Micropenis, Hydro... |
OMIM:214800 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Asthma, Patent ductus arteriosus, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypert... |
ORPHA:444077 |
| Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Micropenis, Crossed fused renal ectopia, Hydronephrosis |
OMIM:147920 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Pulmonary artery stenosis, Patent ductus arteriosus |
ORPHA:2255 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Asthma, Apnea |
ORPHA:3206 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, ... |
OMIM:619534 |
| Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis |
ORPHA:93271 |
| Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Wide penis, Vesicoureteral reflux, Dilatation of... |
ORPHA:3455 |
| Coffin-Siris Syndrome |
|
Patent ductus arteriosus, Recurrent upper respiratory tract infections, Aspiration pneumonia |
ORPHA:1465 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Dysphagia, Chordee, Bruxism, Ves... |
ORPHA:261537 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Prominent scalp veins, Pre... |
OMIM:264090 |
| Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Dysph... |
ORPHA:2152 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Enlarged ki... |
OMIM:312870 |
| Semilobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93924 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Dysphagia, Duplication of renal ... |
ORPHA:261552 |
| Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Osteoarthritis, Ecchymosis, Acrocyanosis, Fragil... |
ORPHA:287 |
| Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
| Hydrolethalus Syndrome 1 |
|
Hypospadias, Hydronephrosis |
OMIM:236680 |
| Peters-Plus Syndrome |
|
Hydronephrosis, Ureteral duplication, Hypospadias, Renal hypoplasia |
OMIM:261540 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hydronephrosis, Renal dysplasia |
ORPHA:480880 |
| Lafora Disease |
|
Recurrent aspiration pneumonia, Severe photosensitivity |
ORPHA:501 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Abscess, Septic arthritis, Bruising susceptibility, Recurrent aspiratio... |
ORPHA:642 |
| Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Hydronephrosis |
OMIM:304120 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconjunctivitis sicca, Osteoarthritis, Acrocyanosis, Apnea |
ORPHA:285 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Recurrent pneumonia, Acute myelomonocytic leukemia |
ORPHA:99646 |
| Viss Syndrome |
|
Hydronephrosis, Dysphagia |
OMIM:619472 |
| Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata |
OMIM:303600 |
| Johanson-Blizzard Syndrome |
|
Micropenis, Hypospadias, Hydronephrosis, Urethrovaginal fistula |
OMIM:243800 |
| Pmm2-Cdg |
|
Respiratory distress, Pericarditis, Abnormal subcutaneous fat tissue distribution, Aspiration pne... |
ORPHA:79318 |
| Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia |
OMIM:216340 |
| Periventricular Nodular Heterotopia 7 |
|
Optic disc pallor, Sensorineural hearing impairment, Ataxia, Hypsarrhythmia |
OMIM:617201 |
| Periventricular Nodular Heterotopia |
|
Aortic regurgitation, Gastroesophageal reflux, Abnormal heart valve morphology |
ORPHA:98892 |
