| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Renal magnesium wasting, Nephrocalcinosis, Renal potassium wasting |
ORPHA:564178 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
| Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chronic pu... |
ORPHA:2414 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the l... |
ORPHA:1041 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolit... |
ORPHA:405 |
| Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
| Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
| Hypomagnesemia 2, Renal |
|
Renal magnesium wasting, Renal insufficiency, Hypocalciuria |
OMIM:154020 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... |
OMIM:115197 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Renal magnesium wasting, Nephrocalcinosis, Polyuria, Renal potassium wasting |
OMIM:618314 |
| Idiopathic Hypercalciuria |
|
Renal calcium wasting, Hypercalciuria, Parathormone-independent increased renal tubular calcium r... |
ORPHA:2197 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio... |
OMIM:614702 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... |
ORPHA:300751 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Dyspnea, Pleural effusion |
ORPHA:48686 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pericardial effusion, Dy... |
ORPHA:199241 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... |
ORPHA:411703 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Diastasis recti, Polyhydramnios, Microgn... |
OMIM:608149 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia, Renal steatosis |
OMIM:261650 |
| East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte concentration... |
ORPHA:199343 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Miller-Dieker Syndrome |
|
Omphalocele, Polyhydramnios |
ORPHA:531 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... |
OMIM:261740 |
| Fetal Encasement Syndrome |
|
Omphalocele, Tetralogy of Fallot, Thin skin, Congenital diaphragmatic hernia |
OMIM:613630 |
| Acute Interstitial Pneumonia |
|
Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Lymphade... |
ORPHA:79126 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
| Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pericardial effusion, Dyspnea, Angioedema, Emphysema, Splenomega... |
ORPHA:36412 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory distress, Bicuspid aortic ... |
ORPHA:363705 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardiomegaly, Perica... |
ORPHA:555874 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Dyspnea, Lymphangioma, S... |
ORPHA:464329 |
| Boomerang Dysplasia |
|
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Polyhydramnios |
ORPHA:1263 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... |
OMIM:617300 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fet... |
OMIM:601927 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Polyhydramnios, Micrognathia, Congenital diaphragmatic hernia, Flexion contracture, ... |
OMIM:263210 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria, Ketotic hypoglycemia |
OMIM:616095 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia, Hypospadias, Renal salt wasting |
OMIM:201910 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal... |
ORPHA:254534 |
| Distal Duplication 15Q |
|
Omphalocele, Congenital muscular torticollis, Camptodactyly of finger, Micrognathia, Intrauterine... |
ORPHA:1707 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hyd... |
OMIM:235510 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Congenital hypertrophy of ... |
OMIM:239850 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology, Ascites |
OMIM:608776 |
| Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:616963 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Inguinal hernia, Flexion contracture of finger, Diastasis recti, Polyhydramnios, Lar... |
ORPHA:254528 |
| Pseudodiastrophic Dysplasia |
|
Omphalocele, Malar flattening |
ORPHA:85174 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia... |
OMIM:617022 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Heparin-Induced Thrombocytopenia |
|
Abnormal onset of bleeding, Cerebral ischemia, Myocardial infarction, Pulmonary embolism |
ORPHA:3325 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Hypercalciuria, Hyperphosphaturia, Nephrolithiasis |
OMIM:612286 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Hypoplasia of the thymus, Endocardial fibroelast... |
OMIM:619313 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Polyhydramnios, Micrognathia, Pericardial effusion, Carious teeth, Multiple muscular ventricular ... |
OMIM:620070 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Dyspnea, Prolonged QTc interval, Petechiae |
ORPHA:231111 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Respiratory distress, Tachycardia, Exercise-induced rhabdomyolysis, Ventri... |
ORPHA:26793 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Psoriasiform dermatitis, Ventricular septal defect, Polyhydramnios, Hematochezia, Hy... |
OMIM:243150 |
| Congenital Enterovirus Infection |
|
Abnormal bleeding, Respiratory distress, Polyhydramnios, Fetal ascites, Pericardial effusion, Myo... |
ORPHA:292 |
| Gaucher Disease Type 1 |
|
Pericardial effusion, Abnormal myocardium morphology, Hypersplenism, Splenomegaly, Pedal edema, A... |
ORPHA:77259 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion |
OMIM:613885 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Ventricular septal defect, Micrognathia |
ORPHA:93267 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy, Micrognathia |
OMIM:620089 |
| Triploidy |
|
Omphalocele, Polyhydramnios, Micrognathia, Meningocele, Macroglossia, Abnormal cardiac septum mor... |
ORPHA:3376 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Omphalocele |
OMIM:614450 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Edema, Raynaud phenomenon, Pericardial effusion, Dyspnea, Lymphadenopathy, Pleural effu... |
ORPHA:93552 |
| Antithrombin Iii Deficiency |
|
Arterial occlusion, Pulmonary embolism |
OMIM:613118 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... |
OMIM:618775 |
| Poems Syndrome |
|
Lipodystrophy, Edema, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Lym... |
ORPHA:2905 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Umbilical hernia, Macroglossia |
OMIM:275100 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Congestive heart... |
ORPHA:90308 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
| Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Portal hypertension, Edema, Pericardial effusion, Hepatosplenomegaly, Hypertension,... |
OMIM:619487 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:2143 |
| Carpenter Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Persistence of p... |
OMIM:201000 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:2141 |
| Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele |
OMIM:258320 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype... |
ORPHA:73224 |
| Alkuraya-Kucinskas Syndrome |
|
Edema, Micrognathia, Pericardial effusion, Webbed neck, Camptodactyly, Arthrogryposis multiplex c... |
OMIM:617822 |
| Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
| Achondrogenesis, Type Ib |
|
Inguinal hernia, Polyhydramnios, Edema, Hydrops fetalis, Respiratory insufficiency, Stillbirth, U... |
OMIM:600972 |
| Trisomy 1Q |
|
Microretrognathia, Omphalocele, Ventricular septal defect, Camptodactyly of finger, Polyhydramnio... |
ORPHA:261344 |
| Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
| Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
| Fanconi Renotubular Syndrome 3 |
|
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria |
OMIM:615605 |
| Acalvaria |
|
Omphalocele, Spina bifida |
ORPHA:945 |
| Isolated Anencephaly |
|
Omphalocele, Intrauterine growth retardation, Thymus hyperplasia, Congenital diaphragmatic hernia |
ORPHA:563609 |
| Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Ventricular septal defect, Parachute mitral valve, Webbed neck, Atrial septal defect... |
OMIM:618316 |
| Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Intestinal lymphangiectasia, P... |
ORPHA:90362 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia, Decreased glomerular filtration rate |
OMIM:618182 |
| Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Natal tooth, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Edema, Sple... |
OMIM:269860 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis |
OMIM:612287 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypercalciuria |
OMIM:242050 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar... |
ORPHA:99827 |
| Q Fever |
|
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effus... |
ORPHA:781 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Polyhydramnios, Parachute mitral valve, Micrognathia, Asplenia, Atrial sep... |
OMIM:265380 |
| Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Micrognathia, Abnormality of the spleen, Oligohydra... |
ORPHA:1834 |
| Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Splenomegaly, Pleural effusion, Lymphadenopathy |
OMIM:613011 |
| Chromosome 9P Deletion Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Micrognathia, Heart murmur, Perimembrano... |
OMIM:158170 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Lymphedema, Dyspnea, Pneumothorax, Abnormality of the lymphatic syst... |
ORPHA:538 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Micrognathia, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Asc... |
OMIM:618183 |
| Autosomal Dominant Hypocalcemia |
|
Nephrocalcinosis, Hypermagnesiuria, Hypercalciuria |
ORPHA:428 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Omphalocele, Inguinal hernia, Polyhydramnios, Micrognathia, Abnormalit... |
OMIM:247200 |
| Gitelman Syndrome |
|
Polyuria, Renal magnesium wasting, Enuresis, Hypocalciuria, Nocturia, Renal potassium wasting |
OMIM:263800 |
| Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilat... |
ORPHA:563 |
| Hennekam Syndrome |
|
Delayed eruption of teeth, Camptodactyly of finger, Lymphedema, Pericardial effusion, Splenomegal... |
ORPHA:2136 |
| Dent Disease 2 |
|
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... |
OMIM:300555 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Inguinal hernia, Widened atrophic scar, Micrognathia, Pericardial effusion, Mitra... |
ORPHA:536532 |
| Schisis Association |
|
Encephalocele, Omphalocele, Congenital diaphragmatic hernia, Spina bifida, Anencephaly |
ORPHA:63862 |
| Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Respiratory failure requiring assisted ventilation, Inguinal hernia, Diastasis recti... |
ORPHA:254519 |
| Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... |
ORPHA:94088 |
| Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Abnormality of the diaphragm, Congenital diaphragmatic hernia |
OMIM:601163 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Nephrocalcinosis, Aminoaciduria,... |
OMIM:616026 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Ventricular septal defect, Anterior encephalocele |
OMIM:601357 |
| Aicardi-Goutieres Syndrome 7 |
|
Generalized lymphadenopathy, Pneumonia, Edema, Hematemesis, Pericardial effusion, Splenomegaly, V... |
OMIM:615846 |
| Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, H... |
ORPHA:2038 |
| Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Abnormal le... |
ORPHA:2041 |
| Pentalogy Of Cantrell |
|
Encephalocele, Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenita... |
ORPHA:1335 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Telangiectasia of the skin, Spina bifida... |
ORPHA:2092 |
| Congenital Gerbode Defect |
|
Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf... |
ORPHA:99095 |
| Fibrochondrogenesis 1 |
|
Omphalocele, Hydrops fetalis, Stillbirth, Camptodactyly, Malar flattening, Joint contracture of t... |
OMIM:228520 |
| Alg9-Cdg |
|
Microretrognathia, Omphalocele, Torticollis, Tricuspid regurgitation, Ventricular septal defect, ... |
ORPHA:79328 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly, Intrauterine growth retardation, Omphalocele, Micrognathia |
ORPHA:3035 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... |
ORPHA:275766 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventricula... |
ORPHA:75249 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Polyhydramnios, Cardiomegaly, Asplenia, Dextrotransposition of the great ar... |
OMIM:306955 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Abnormal subcutaneous fat t... |
OMIM:212065 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Omphalocele, Micrognathia, Respiratory insu... |
ORPHA:2484 |
| Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Natal tooth, Paranasal sinus hypoplasia, Ventricular septal defect, Apnea, Polyhydra... |
OMIM:300373 |
| Vacterl/Vater Association |
|
Omphalocele, Occipital encephalocele, Polyhydramnios, Congenital diaphragmatic hernia, Anencephal... |
ORPHA:887 |
| Trigonocephaly 1 |
|
Omphalocele |
OMIM:190440 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramuscular hema... |
ORPHA:79 |
| Hypokalemic Tubulopathy And Deafness |
|
Renal salt wasting |
OMIM:619406 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic herni... |
OMIM:222448 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Omphalocele, Respiratory failure, Ventricular septal defect |
OMIM:617895 |
| Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Abnormal myoca... |
ORPHA:77261 |
| Trisomy 18 |
|
Microretrognathia, Omphalocele, Ventricular septal defect, Camptodactyly of finger, Spina bifida,... |
ORPHA:3380 |
| Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time,... |
ORPHA:335 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Prolonged bleeding time, Tachycardia, Cor triatrium sinister, Ventricular septa... |
OMIM:618280 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral val... |
ORPHA:371428 |
| Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
| Caudal Duplication |
|
Omphalocele, Myelomeningocele, Spina bifida |
ORPHA:1756 |
| Cirrhotic Cardiomyopathy |
|
Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargeme... |
ORPHA:57777 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Microgn... |
OMIM:618454 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
| Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Scapular winging, Micrognathia, Webbed neck, Atrial septal defect |
OMIM:609625 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
| Mosaic Trisomy 1 |
|
Microretrognathia, Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital di... |
ORPHA:1692 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria |
OMIM:239199 |
| Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Mandibular prognathia, Inguinal hernia, Ventricular s... |
ORPHA:373 |
| Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Natal tooth, Ventricular septal defect, Micrognathia, Atrial septal defect |
OMIM:145420 |
| Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
| Chédiak-Higashi Syndrome |
|
Abnormal bleeding, Epistaxis, Edema, Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Lymp... |
ORPHA:167 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... |
ORPHA:1345 |
| Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
| Complete Atrioventricular Septal Defect |
|
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... |
ORPHA:1329 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hypercalciuria, Generalized ami... |
ORPHA:2088 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Omphalocele, Meningocele, Anencephaly, Intrauterine growth retardation |
OMIM:603194 |
| Myhre Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Pericardial effusion, Hypoplasia of the maxilla... |
OMIM:139210 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
| Marshall-Smith Syndrome |
|
Microretrognathia, Omphalocele, Prominence of the premaxilla, Ventricular septal defect, Apnea, S... |
OMIM:602535 |
| Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Pericardial effusion, Dyspnea, Mediastinal lymphadenopathy, Emphysem... |
OMIM:181000 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Bicuspid aortic valve, Micrognathia, Camptodactyly |
OMIM:618529 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Microgn... |
OMIM:616894 |
| Iniencephaly |
|
Encephalocele, Omphalocele, Spina bifida, Polyhydramnios, Congenital diaphragmatic hernia, Myelom... |
ORPHA:63259 |
| Fryns Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Polyhydramnios, Micrognathia, Abnormal cardiac sept... |
ORPHA:2059 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... |
ORPHA:99103 |
| Hypercalcemia, Infantile, 1 |
|
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:143880 |
| Opitz Gbbb Syndrome |
|
Omphalocele, Natal tooth, Inguinal hernia, Ventricular septal defect, Tracheomalacia, Micrognathi... |
ORPHA:2745 |
| Pagod Syndrome |
|
Encephalocele, Omphalocele, Sudden cardiac death, Spina bifida, Situs inversus totalis, Abnormali... |
ORPHA:991 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Renal salt wasting |
OMIM:614736 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Omphalocele, Micrognathia, Mitral valve prol... |
OMIM:309350 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Omphalocele, Hypoplasia of the premaxilla, Polyhydramnios, Micrognathia, Abnormal ... |
ORPHA:2166 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting |
OMIM:613743 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Umbilical hernia, Neoplasm of the heart, Polyhydramnios |
ORPHA:2241 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Holoprosencephaly |
|
Encephalocele, Omphalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Conge... |
ORPHA:2162 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... |
OMIM:613090 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Flexion contractu... |
ORPHA:96334 |
| Fryns Syndrome |
|
Microretrognathia, Omphalocele, Ventricular septal defect, Polyhydramnios, Stillbirth, Aplasia of... |
OMIM:229850 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Pulmonary embolism |
OMIM:612336 |
| Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage, Respiratory insufficiency, Lymphadenopathy |
ORPHA:69077 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Otopalatodigital Syndrome, Type I |
|
Absent frontal sinuses, Malar flattening, Omphalocele, Multiple impacted teeth |
OMIM:311300 |
| Aymé-Gripp Syndrome |
|
Pericarditis, Inguinal hernia, Congenital diaphragmatic hernia, Pericardial effusion, Camptodactyly |
ORPHA:1272 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Omphalocele, Abnormal heart valve morphology, Camptodactyly of finger, Micrognathi... |
ORPHA:90652 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Natal tooth, Microretrognathia, Omphalocele, Hypoplastic facial bones, Respiratory... |
OMIM:616300 |
| Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Flexion contracture, Omphalocele, Neonatal death |
OMIM:619124 |
| Codas Syndrome |
|
Delayed eruption of teeth, Omphalocele, Ventricular septal defect, Polyhydramnios, Atrial septal ... |
OMIM:600373 |
| Gitelman Syndrome |
|
Prolonged QT interval, Respiratory distress, Raynaud phenomenon, Pericardial effusion, Rhabdomyol... |
ORPHA:358 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Prune belly |
OMIM:601389 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechoge... |
OMIM:613845 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Omphalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular ca... |
OMIM:264480 |
| Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Ascites, Polysplenia |
OMIM:200995 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Psoriasiform dermatitis, Ventricular septal defect, Polyhydramnios, Hypoplasia of th... |
ORPHA:436252 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, Natal tooth, Omphalocele, Camptodactyly of finger, Mic... |
OMIM:249000 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Omphalocele, Ventricular septal defect, Polyhydramnios, Micrognathia, Complete ... |
OMIM:236680 |
| C Syndrome |
|
Omphalocele, Ventricular septal defect, Micrognathia |
OMIM:211750 |
| Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Anencephaly, Transposition of the g... |
OMIM:313850 |
| Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... |
ORPHA:63260 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
| Familial Isolated Hyperparathyroidism |
|
Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia |
ORPHA:99879 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria |
OMIM:602722 |
| Esophageal Atresia |
|
Respiratory distress, Omphalocele, Ventricular septal defect, Polyhydramnios, Episodic respirator... |
ORPHA:1199 |
| Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Arrhythmia, Edema, Pulmonary embolism |
ORPHA:624 |
| Cranioectodermal Dysplasia 1 |
|
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... |
OMIM:218330 |
| Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:95706 |
| Bladder Exstrophy |
|
Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy |
ORPHA:93930 |
| Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Omphalocele, Inguinal hernia, Diastasis recti, Polyhydramnios, Cardiomegal... |
ORPHA:116 |
| 3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Omphalocele, Ventricular septal defect, Diastasis recti, Abnormality... |
OMIM:257920 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... |
OMIM:227810 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Purpura, Thin skin, Subcutaneous hemorrhage, Pulmonary embolism |
ORPHA:743 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Purpura, Thin skin, Pulmonary embolism |
ORPHA:745 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Respiratory distress, Transient ischemic attack, Edema, Polyhydramnios, ... |
ORPHA:51608 |
| Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Inguinal hernia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Arthr... |
OMIM:263650 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalciuria, Hypocalciuria, Nephrolithiasis |
OMIM:145980 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... |
OMIM:300554 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Tubulointerstiti... |
ORPHA:85450 |
| Fibrochondrogenesis |
|
Omphalocele, Camptodactyly of finger, Respiratory insufficiency |
ORPHA:2021 |
| Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Hyposthenuria |
OMIM:300539 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
| Constricting Bands, Congenital |
|
Encephalocele, Omphalocele, Gastroschisis, Ectopia cordis, Bladder exstrophy |
OMIM:217100 |
| Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Ventricular septal defect, Advanced eruption of teeth, Atrial septal defect, Umbilic... |
ORPHA:1519 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Colonic Atresia |
|
Omphalocele, Gastroschisis |
ORPHA:1198 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Edema, Pulmonary embolism, Budd-Chiari syndrome, Intestinal lymphangiectasia, Ascites, Generalize... |
OMIM:226300 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Cardiac shunt, Edema, Right ventricular failure, Pulmonary embolism, Incr... |
ORPHA:70591 |
| Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
| Apparent Mineralocorticoid Excess |
|
Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency, Renal sodium wasting |
ORPHA:320 |
| Ablepharon Macrostomia Syndrome |
|
Omphalocele, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone... |
ORPHA:920 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Renal sodium wasting, Renal potassium wasting |
OMIM:612780 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
| Okamoto Syndrome |
|
Omphalocele, Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology, Primum ... |
ORPHA:2729 |
| Alpha-2-Plasmin Inhibitor Deficiency |
|
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax |
OMIM:262850 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
| Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endo... |
ORPHA:97214 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Hypotensio... |
ORPHA:340 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Renal salt wasting |
OMIM:610600 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele |
ORPHA:3329 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Renal salt wasting |
OMIM:203400 |
| Hellp Syndrome |
|
Pulmonary edema, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion, ... |
ORPHA:244242 |
| Familial Glucocorticoid Deficiency |
|
Recurrent urinary tract infections, Ketotic hypoglycemia, Renal salt wasting, Hypoglycemic seizur... |
ORPHA:361 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Dyspnea, Pedal edema, Hypertension, Ana... |
ORPHA:567546 |
| Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Pedal edema, Cardiorespiratory arrest, Cough, Pulmonary ... |
ORPHA:228116 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Renal salt wasting |
OMIM:264350 |
| Charge Syndrome |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Micrognat... |
OMIM:214800 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Retrognathia |
ORPHA:2736 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Nephrocalcinosis, Hypercalciuria, Nephrolithiasis, Decreased glomerular filtration rate |
OMIM:601198 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Omphalocele, Diastasis recti |
OMIM:618419 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Inguinal hernia, Hypertension, Hydromyelia, Neonatal death, Atrial septal defect, Um... |
OMIM:308205 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Micropenis, Hypospadias, Hypercalciuria |
OMIM:614732 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorp... |
OMIM:145981 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting |
OMIM:193100 |
| Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmati... |
OMIM:305600 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension |
ORPHA:247257 |
| Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Sinusitis, Epistaxis, Sudden cardia... |
ORPHA:906 |
| Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
| Cloacal Exstrophy |
|
Omphalocele, Spina bifida, Myelomeningocele, Bladder exstrophy, Cloacal exstrophy |
ORPHA:93929 |
| C Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Polyhydramnios, Micrognathia, Aplasia/Hypoplasia of... |
ORPHA:1308 |
| Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
| Lymphoid Interstitial Pneumonia |
|
Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Mediastinal lymphadenopathy, Bronchiectasis, Hyp... |
ORPHA:79128 |
| Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypercalciuria, Hyperphosphaturia, Medullary nephrocalcinosis, Nephrolithiasis |
ORPHA:157215 |
| Corticosteroid-Binding Globulin Deficiency |
|
Decreased urinary potassium |
OMIM:611489 |
| Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Elbow contracture, Spina bifida, Micrognathia, Respiratory insufficiency, Respirator... |
OMIM:304120 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
| Familial Hypoaldosteronism |
|
Decreased urinary potassium, Proximal renal tubular acidosis, Renal salt wasting |
ORPHA:427 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Diastasis recti, Cardiomegaly, Cardiomyopathy, Macroglossia |
OMIM:130650 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype... |
OMIM:601678 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypercalciuria |
ORPHA:2239 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
| Ablepharon-Macrostomia Syndrome |
|
Omphalocele, Ventral hernia, Hypoplasia of the zygomatic bone, Thin skin, Camptodactyly, Aplastic... |
OMIM:200110 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... |
ORPHA:774 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypercalciuria, Medullary nephrocalcinosis, Polyuria |
OMIM:300971 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Calcium nephrolithiasis, Renal tubular dysfunction, Hypercalciuria |
OMIM:241530 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Skeletal muscle atrophy, Generalized lymphadenopathy, Pulmonary embolism, I... |
ORPHA:3260 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Periorbital edema, Edema, Pulmonary embolism |
ORPHA:567548 |
| Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
| Exstrophy-Epispadias Complex |
|
Omphalocele, Inguinal hernia, Spina bifida, Cystocele, Abnormality of the abdominal wall, Abnorma... |
ORPHA:322 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele, Neonatal respiratory distress, Webbed neck |
ORPHA:3164 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Polyuria |
OMIM:613677 |
| Shprintzen Omphalocele Syndrome |
|
Omphalocele, Neonatal respiratory distress, Webbed neck |
OMIM:182210 |
| Marburg Hemorrhagic Fever |
|
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Non... |
ORPHA:99826 |
| Pallister-Killian Syndrome |
|
Delayed eruption of teeth, Omphalocele, Inguinal hernia, Edema of the dorsum of feet, Ventricular... |
OMIM:601803 |
| Bartter Syndrome Type 4 |
|
Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki... |
ORPHA:89938 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive... |
OMIM:187300 |
| Holoprosencephaly 7 |
|
Omphalocele, Occipital meningocele, Hypoplasia of the premaxilla |
OMIM:610828 |
| Pmm2-Cdg |
|
Respiratory distress, Mandibular prognathia, Pericarditis, Multiple joint contractures, Angina pe... |
ORPHA:79318 |
| Cardiac Valvular Dysplasia 1 |
|
Inguinal hernia, Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Edema, L... |
OMIM:212093 |
| Manitoba Oculotrichoanal Syndrome |
|
Omphalocele |
OMIM:248450 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype... |
OMIM:241200 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Penoscrotal hypospadias, Hypospadias, Neonatal hypoglycemia, Renal salt wasting |
ORPHA:90791 |
| Late-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting |
ORPHA:556037 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
| Hypophosphatasia, Infantile |
|
Nephrocalcinosis, Elevated urine pyrophosphate, Phosphoethanolaminuria, Hypercalciuria |
OMIM:241500 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Overriding aorta, Tetralogy of Fallot |
ORPHA:3186 |
| Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal renal tubular ... |
OMIM:229600 |
| Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Micrognathia |
OMIM:618820 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
| Early-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting |
ORPHA:556030 |
| Hyperparathyroidism, Neonatal Severe |
|
Polyuria, Aminoaciduria, Hyperphosphaturia, Hypercalciuria |
OMIM:239200 |
| Adrenal Hypoplasia, Congenital |
|
Renal salt wasting |
OMIM:300200 |
| Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction,... |
ORPHA:117 |
| Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte... |
OMIM:615343 |
| Helix Syndrome |
|
Nephrolithiasis, Renal insufficiency, Hypocalciuria, Polyuria |
OMIM:617671 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Hydrops fetalis, Respiratory insufficiency, Micrognathia |
ORPHA:93271 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Neonatal hypoglycemia, Renal salt wasting, Abnormal urine potassium concentration, Hypernatriuria... |
ORPHA:168558 |
| Acute Adrenal Insufficiency |
|
Decreased urinary potassium, Renal insufficiency, Hypoglycemia, Renal salt wasting |
ORPHA:95409 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Neonatal hypoglycemia, Renal salt wasting, Abnormal urine potassium concentration, Hypernatriuria... |
ORPHA:289548 |
| Fraser Syndrome |
|
Encephalocele, Omphalocele, Myelomeningocele, Dental malocclusion, Umbilical hernia |
ORPHA:2052 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Camptodactyly of finger, Inguinal hernia, Abnormal dental enamel morphology |
ORPHA:2273 |
| Oeis Complex |
|
Omphalocele, Myelomeningocele, Bladder exstrophy, Cloacal exstrophy |
OMIM:258040 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
| Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia |
ORPHA:352540 |
| Dehydrated Hereditary Stomatocytosis |
|
Splenomegaly, Pulmonary venous hypertension, Edema |
ORPHA:3202 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia |
ORPHA:89937 |
| Cystinosis, Nephropathic |
|
Renal insufficiency, Diabetes mellitus, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic... |
OMIM:219800 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Renal tubular dysfunction |
OMIM:307800 |
| Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria |
OMIM:156400 |
| Primary Unilateral Adrenal Hyperplasia |
|
Increased urinary potassium |
ORPHA:231580 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Inguinal hernia, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, ... |
OMIM:130050 |
| Familial Hyperaldosteronism Type Iii |
|
Hypercalciuria |
ORPHA:251274 |
| Superficial Siderosis |
|
Abnormal bleeding, Subarachnoid hemorrhage, Internal hemorrhage, Lower limb muscle weakness, Pers... |
ORPHA:247245 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Long penis, Increased urinary 11-deoxycorticosterone level, Renal salt wasting |
ORPHA:90795 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Hypercalciuria, Increased urine deoxypyridinoline level |
OMIM:239000 |
| Oculoskeletodental Syndrome |
|
Mucopolysacchariduria, Renal agenesis, Hypercalciuria |
OMIM:618440 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Increased urinary potassium |
ORPHA:231625 |
| Addison Disease |
|
Type I diabetes mellitus, Hypoglycemia, Decreased urinary potassium, Renal salt wasting |
ORPHA:85138 |
| Wilson Disease |
|
Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Amino... |
OMIM:277900 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting |
OMIM:612089 |
| Leprechaunism |
|
Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria, Nephrocalcinosis, Recurrent inf... |
ORPHA:508 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Horseshoe kidney |
OMIM:163200 |
| Mccune-Albright Syndrome |
|
Renal phosphate wasting, Renal tubular dysfunction, Hyperphosphaturia |
ORPHA:562 |
| Pearson Marrow-Pancreas Syndrome |
|
Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic aciduria, Type... |
OMIM:557000 |
| Yellow Fever |
|
Abnormal bleeding, Shock, Supraventricular arrhythmia, Excessive bleeding after a venipuncture, H... |
ORPHA:99829 |
| Lysosomal Acid Lipase Deficiency |
|
Hypernatriuria, Abnormal urine potassium concentration, Renal salt wasting |
ORPHA:275761 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Cardiac rhabdomyoma, Hypertension, Respiratory failure, Shagreen patch, Int... |
ORPHA:805 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Inguinal hernia, Telangiectasia of the skin, Transient ischemic attack, Abnorm... |
ORPHA:286 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Urinary retention, Decreased urinary potassium |
ORPHA:79102 |
| Opsismodysplasia |
|
Renal phosphate wasting |
OMIM:258480 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Neonatal hypoglycemia, Renal salt wasting, Long penis, Elevated urinary epinephrine level, Hypern... |
ORPHA:90794 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau... |
ORPHA:369837 |
| Gaisböck Syndrome |
|
Nephrocalcinosis, Hypernatriuria, Diabetes mellitus |
ORPHA:90041 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:99880 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:143 |
| Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Hypercalciuria, Neph... |
ORPHA:653 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... |
ORPHA:534 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion |
ORPHA:289176 |
| Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... |
OMIM:309000 |
| X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Hypocalciuria |
ORPHA:89936 |
| Holoprosencephaly 2 |
|
Malar flattening, Aplasia of the premaxilla, Single ventricle |
OMIM:157170 |
| Multiple Osteochondromas |
|
Cervical myelopathy, Pneumothorax, Hemothorax |
ORPHA:321 |
| Branchiooculofacial Syndrome |
|
Facial palsy, Micrognathia, Cleft of chin, Elbow flexion contracture, Atypical scarring of skin, ... |
OMIM:113620 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Hypercalciuria, Renal dysplasia |
OMIM:300990 |
| Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Diabetes mellitus, Renal insufficiency, Abnormal renal morpho... |
OMIM:194050 |
| Williams Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Proteinuria, Urethr... |
ORPHA:904 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Cleft of chin, Abnormal heart morphology |
OMIM:101400 |
| Osteogenesis Imperfecta |
|
Hypercalciuria, Nephrolithiasis |
ORPHA:666 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hypocalciuria, Hypophosphaturia |
ORPHA:73223 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hypercalciuria, Nephrolithiasis |
ORPHA:652 |
| Cystic Fibrosis |
|
Hypercalciuria |
OMIM:219700 |
| Sarcoidosis |
|
Renal insufficiency, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Tubulointerstitial nephritis |
ORPHA:797 |
