Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... |
OMIM:603965 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
Nephrotic Syndrome, Type 24 |
|
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... |
OMIM:619263 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension |
OMIM:607832 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Lipedema |
|
Edema |
OMIM:614103 |
Nephrotic Syndrome, Type 23 |
|
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... |
OMIM:619201 |
Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome |
|
Lymphedema |
ORPHA:86914 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... |
ORPHA:976 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... |
OMIM:620049 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:616893 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:301028 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... |
OMIM:618178 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... |
OMIM:256020 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension, Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney d... |
OMIM:618061 |
Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... |
OMIM:618176 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616220 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
Oligomeganephronia |
|
Polydipsia, Secundum atrial septal defect, Renal tubular atrophy, Decreased glomerular filtration... |
ORPHA:2260 |
Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Renal insuff... |
OMIM:162000 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Decreased glomerular filtration rate |
OMIM:618182 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
Focal Segmental Glomerulosclerosis 6 |
|
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... |
OMIM:614131 |
Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
Nephrotic Syndrome, Type 4 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... |
OMIM:256370 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hypertension, Proteinuria, Stage 5 chronic kidney disease |
OMIM:603278 |
German Syndrome |
|
Lymphedema |
OMIM:231080 |
Takayasu Arteritis |
|
Arteritis |
OMIM:207600 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Renal insu... |
OMIM:614723 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... |
OMIM:616892 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Atrial septal defect, Hepatomegaly, Respiratory insufficiency, ... |
ORPHA:90308 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Hyper... |
OMIM:601894 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:615573 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphedema, Pleural effusion, Lymphadenopathy |
ORPHA:545 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Dysphagia, Proteinuria, Rena... |
OMIM:254900 |
Chylous Ascites |
|
Lymphedema, Ascites |
ORPHA:1160 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... |
OMIM:137950 |
Fetal Parvovirus Syndrome |
|
Hydrops fetalis, Thrombocytopenia, Anemia, Hypertrophic cardiomyopathy, Increased nuchal transluc... |
ORPHA:295 |
Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Chronic pulmonary ... |
ORPHA:2414 |
Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
Oculorenocerebellar Syndrome |
|
Nephropathy, Glomerular sclerosis |
OMIM:257970 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Hydrops f... |
ORPHA:45452 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... |
OMIM:308990 |
Systemic Capillary Leak Syndrome |
|
Abnormal renal tubule morphology, Arrhythmia, Myocarditis, Hypotension, Oliguria, Renal insuffici... |
ORPHA:188 |
Transaldolase Deficiency |
|
Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Coarctation of aorta, Biven... |
ORPHA:101028 |
Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:616730 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis |
OMIM:614650 |
Meige Disease |
|
Predominantly lower limb lymphedema, Facial edema, Lymph node hypoplasia, Absence of lymph node g... |
ORPHA:90186 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Decreased glomerular filtration rate, Abnormal renal physiology, Abnormal... |
ORPHA:94088 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:610725 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion |
OMIM:617300 |
Iga Nephropathy, Susceptibility To, 3 |
|
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertensio... |
OMIM:616818 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Nephronophthisis 1 |
|
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial ... |
OMIM:256100 |
Extracranial Carotid Artery Aneurysm |
|
Stroke, Subarachnoid hemorrhage, Vasculitis, Cerebral ischemia, Total anomalous pulmonary venous ... |
ORPHA:494424 |
Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure |
OMIM:236750 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... |
OMIM:619155 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Hydrops fetalis, Premature birth, Ventricular septal defect, Oligohydramnio... |
ORPHA:1909 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema, Facial edema, Edema |
OMIM:618154 |
Aapoaiv Amyloidosis |
|
Cardiac amyloidosis, Chronic kidney disease, Left bundle branch block, Abnormal renal medulla mor... |
ORPHA:439232 |
Lymphatic Malformation 4 |
|
Lymphedema |
OMIM:615907 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Twin-to-twin transfusion, Increased placen... |
ORPHA:1041 |
Temporal Arteritis |
|
Retinal arteritis |
OMIM:187360 |
Renal Hypoplasia |
|
Chronic kidney disease, Polydipsia, Abnormal renal tubule morphology, Unilateral renal agenesis, ... |
ORPHA:93101 |
Nail-Patella-Like Renal Disease |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... |
OMIM:613944 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... |
OMIM:614377 |
Lcat Deficiency |
|
Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Acute kidney injury, Stag... |
ORPHA:650 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Stage 5 chronic kidney disease... |
OMIM:612925 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glomerular filtration rate, Re... |
ORPHA:85450 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis |
OMIM:614196 |
Moyamoya Disease 1 |
|
Telangiectasia, Carotid artery occlusion, Inflammatory arteriopathy |
OMIM:252350 |
Galloway-Mowat Syndrome 8 |
|
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... |
OMIM:618349 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Restrictive ca... |
OMIM:619433 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, Micropenis, Hypospadias, Hydrops fetalis, Dilated cardiomyopathy, Cryptorchi... |
OMIM:618815 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome |
OMIM:612926 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria, Hemolytic-uremic syndrome |
OMIM:612922 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Oliguria, Renal insufficiency, Hypertensive crisis, Dysphagia, Pulmon... |
ORPHA:220393 |
Aneurysm Of Sinus Of Valsalva |
|
Bacterial endocarditis, Heart murmur, Oliguria, Aortic regurgitation, Congestive heart failure |
ORPHA:1054 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function |
OMIM:604765 |
Nuchal Bleb, Familial |
|
Hydrops fetalis, Stillbirth, Fetal cystic hygroma |
OMIM:257350 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios, Lymphedema, Fetal ascites |
OMIM:620014 |
Achondrogenesis, Type Ib |
|
Respiratory insufficiency, Hydrops fetalis, Polyhydramnios, Umbilical hernia, Edema, Stillbirth, ... |
OMIM:600972 |
Lissencephaly 2 |
|
Lymphedema |
OMIM:257320 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Polyuria, Periglomerular fibrosis, Renal insufficiency, Tubular luminal dilatation, S... |
OMIM:619468 |
Renal Glucosuria |
|
Polydipsia, Polyuria, Glycosuria, Polyphagia, Enuresis nocturna |
OMIM:233100 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hematuria, Pulmona... |
ORPHA:93126 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Flexion contracture, Splenomegaly, Nonimmune hydrops fetalis, Hypogonadism, Abnormality of the am... |
OMIM:608540 |
Microscopic Polyangiitis |
|
Arrhythmia, Hematuria, Vasculitis, Oliguria, Renal insufficiency, Glomerulopathy, Gastrointestina... |
ORPHA:727 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Stroke, Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac de... |
OMIM:115197 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Glomerular subendothelial elec... |
ORPHA:54370 |
Lymphatic Malformation 5 |
|
Predominantly lower limb lymphedema, Facial edema |
OMIM:153200 |
Renal Tubular Dysgenesis |
|
Anuria, Abnormality of the urinary system, Renotubular dysgenesis, Hypotension |
OMIM:267430 |
Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Umbilical hernia, Dyspnea, Ascites |
ORPHA:87876 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Arrhythmia, Hypotension, Oliguria, Dicarboxylic aciduria, Ventricular tachycardia, ... |
ORPHA:159 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Decreased glomerular filtration rate, Hematuria, Proteinuria, Decreased urine output, Pal... |
ORPHA:340 |
Alport Syndrome |
|
Nephrotic syndrome, Renal glomerular foam cells, Mesangial hypercellularity, Nephritis, Thickenin... |
ORPHA:63 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Pulmonary embolism, Abnormal glomerular visce... |
ORPHA:567548 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
Galloway-Mowat Syndrome 7 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:618348 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal corticomedullary d... |
OMIM:602522 |
Ochoa Syndrome |
|
Polydipsia, Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obs... |
ORPHA:2704 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Patent ductus arteriosus, Ascites, Premature birth |
ORPHA:2123 |
Cholestasis-Lymphedema Syndrome |
|
Lymphedema, Splenomegaly |
OMIM:214900 |
Senior-Loken Syndrome 4 |
|
Polyuria, Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:606996 |
Glycogen Storage Disease Iv |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Portal hypertens... |
OMIM:232500 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Hydrops fetalis, Nonimmune hydrops... |
OMIM:603830 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Preeclampsia, Polyhydramnios, Pericarditis, Oligohyd... |
ORPHA:163596 |
Frasier Syndrome |
|
Nephrotic syndrome, Nephroblastoma, Focal segmental glomerulosclerosis, Renal insufficiency, Prot... |
ORPHA:347 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Predominantly lower limb lymphedema, Facial edema, Genital edema, Edema of the dorsum of hands, P... |
ORPHA:568051 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Arrhythmia, Oliguria, Acute kidney injury, Renal insufficien... |
ORPHA:99845 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Stroke, Anomalous branches of internal carotid artery, Ventricular septal d... |
ORPHA:363705 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chronic... |
OMIM:161900 |
Nephrosialidosis |
|
Bone-marrow foam cells, Pericardial effusion, Ascites |
OMIM:256150 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal aortic morphology, A... |
ORPHA:3405 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Decreased glomerular filtration rate, Hematuria, Spider hemangioma, Focal segmental... |
OMIM:232240 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... |
OMIM:301006 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Enlarged kidney, Focal segme... |
OMIM:232200 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... |
OMIM:615861 |
Congenital Enterovirus Infection |
|
Respiratory distress, Skin rash, Hepatic failure, Abnormal bleeding, Hydrops fetalis, Premature b... |
ORPHA:292 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Decreased glomerular filtration rate |
OMIM:601198 |
Fetal Gaucher Disease |
|
Hepatomegaly, Splenomegaly, Intracranial hemorrhage, Hydrops fetalis, Abnormality of the spleen, ... |
ORPHA:85212 |
Placental Insufficiency |
|
Preeclampsia, Small placenta, Eclampsia, Abnormal umbilical cord blood vessel morphology, Hypoxem... |
ORPHA:439167 |
Primary Hyperoxaluria Type 1 |
|
Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Recurrent urinary tract infection... |
ORPHA:93598 |
Dohle Bodies And Leukemia |
|
Lymphedema |
OMIM:223350 |
Galloway-Mowat Syndrome 5 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis |
OMIM:617731 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Lymphedema, Pa... |
OMIM:601927 |
Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
Colchicine Poisoning |
|
Hypovolemia, Arrhythmia, Cardiogenic shock, Myocarditis, Hypotension, Oliguria, Renal insufficien... |
ORPHA:31824 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hepatic failure, Abnormal bleeding, Cirrhosis, Nonimmune hydrops fetalis... |
OMIM:231100 |
Lassa Fever |
|
Oliguria, Shock, Dysphagia |
ORPHA:99824 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, Enlarged kidne... |
OMIM:232220 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... |
OMIM:161950 |
Vasculitis, Lymphocytic, Nodular |
|
Nodular inflammatory vasculitis |
OMIM:192310 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Nonimmune hydrops fetalis, Neonatal death, Neonatal respiratory distress, Pulmonary arterial hype... |
OMIM:619003 |
Nephronophthisis 4 |
|
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... |
OMIM:606966 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:613124 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites, Premature birth, Cardiomegaly, Congestive h... |
OMIM:269920 |
Campomelia, Cumming Type |
|
Polysplenia, Lymphedema |
OMIM:211890 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Lymphedema, Neonatal death |
OMIM:616342 |
Attrv30M Amyloidosis |
|
Abnormal renal physiology, Nephropathy, Arrhythmia, Cardiomegaly, Cardiomyopathy, Atrioventricula... |
ORPHA:85447 |
Neuraminidase Deficiency |
|
Facial edema, Vacuolated lymphocytes, Splenomegaly, Hydrops fetalis, Ascites, Bone-marrow foam ce... |
OMIM:256550 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Renal insuffic... |
ORPHA:84090 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Primary Effusion Lymphoma |
|
Dyspnea, Pericardial effusion, Pleural effusion, Abnormality of the peritoneum |
ORPHA:48686 |
Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... |
OMIM:617730 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinu... |
ORPHA:656 |
Nephronophthisis 3 |
|
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... |
OMIM:604387 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Hypoxemia, Hemothorax, Right ventricular failure, Elevated pulmonary artery pres... |
ORPHA:199241 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Dysplastic Cortical Hyperostosis |
|
Polyhydramnios, Hydrops fetalis, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Decreased liver function, Hepatomegaly, Hepatic failure, Cirrhosis, Respira... |
ORPHA:367 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Tubulointerstit... |
ORPHA:488627 |
Developmental And Epileptic Encephalopathy 96 |
|
Neonatal respiratory distress, Hydrops fetalis |
OMIM:619340 |
Nephrotic Syndrome, Type 21 |
|
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... |
OMIM:618594 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Recurrent spontaneous abortion, Pregnancy exposure, Pulmonary embolism |
ORPHA:82 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polyuria, Polydipsia |
OMIM:222100 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hypernatriuria, Rena... |
OMIM:613090 |
Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
Lymphatic Malformation 1 |
|
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis |
OMIM:153100 |
Heparin-Induced Thrombocytopenia |
|
Abnormal onset of bleeding, Stroke, Pulmonary embolism, Cerebral ischemia, Myocardial infarction |
ORPHA:3325 |
Achondrogenesis |
|
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis, Umbilical hernia |
ORPHA:932 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy |
OMIM:617056 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffic... |
OMIM:256300 |
Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Lymphatic Malformation 6 |
|
Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetalis, Polyhydramnios... |
OMIM:616843 |
Melorheostosis |
|
Lymphedema |
ORPHA:2485 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Nephropathy, Focal segmental glo... |
OMIM:194080 |
Hypocomplementemic Urticarial Vasculitis |
|
Airway obstruction, Hepatomegaly, Skin rash, Splenomegaly, Cough, Angioedema, Pericardial effusio... |
ORPHA:36412 |
Cinca Syndrome |
|
Eosinophilia, Lymphedema, Lymphadenopathy, Hepatosplenomegaly |
OMIM:607115 |
Distal Renal Tubular Acidosis |
|
Nephrolithiasis, Polydipsia, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-w... |
ORPHA:18 |
Lymphedema, Primary, With Myelodysplasia |
|
Lymphedema |
OMIM:614038 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Hydrops fetalis, Pericardial constriction, Ascites, Cardiomega... |
OMIM:253250 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... |
OMIM:615008 |
Al-Gazali-Bakalinova Syndrome |
|
Lymphedema |
OMIM:607131 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Hypotension, Oliguria, Shock, Renal insufficiency, Subconjunctival hemorrhage, Dysph... |
ORPHA:319213 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Dys... |
OMIM:607426 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis, Umbilical hernia |
ORPHA:93298 |
Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis, Pulmonary embolism |
OMIM:134400 |
Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, Nonimmune hydrops... |
OMIM:619313 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema |
ORPHA:79452 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Renal ins... |
ORPHA:567544 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis, Umbilical hernia |
ORPHA:93299 |
Sepsis In Premature Infants |
|
Hepatomegaly, Splenomegaly, Tachycardia, Hypotension, Reversible renal failure, Oliguria, Bradyca... |
ORPHA:90051 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
Alkaptonuria |
|
Nephrolithiasis, Aortic valve calcification, Decreased glomerular filtration rate, Mitral valve c... |
OMIM:203500 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Lymphedema, Splenomegaly, Lymphadenopathy |
ORPHA:3226 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Micropenis, Left ventricular hypertrophy, Hepatosplenomegaly, Recurrent urinary tra... |
OMIM:619487 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Congestive heart failure, Positive regitine blocki... |
ORPHA:276621 |
Greenberg Dysplasia |
|
Lymphedema |
ORPHA:1426 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Hydrops fetalis, Arrhythmia, Prenatal maternal abnormality, Elevated c... |
OMIM:609015 |
Kaposi Sarcoma |
|
Generalized lymphadenopathy, Lymphedema, Abnormality of the spleen |
ORPHA:33276 |
Vexas Syndrome |
|
Nasal chondritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Ar... |
OMIM:301054 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Polydipsia, Nephronophthisis, Polyuria, Tubulointerstitial ... |
OMIM:266900 |
Chilblain Lupus 2 |
|
Edema |
OMIM:614415 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Reduced renal corticomedullary differentiation, Splenomegaly, Hepatosplenomegaly, Rec... |
ORPHA:731 |
Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Hydrops fetalis, Stillbirth, Premature birth |
OMIM:215045 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Proteinuria, Hypertension |
OMIM:105200 |
Pericardial Effusion, Chronic |
|
Retinal arteriolar tortuosity, Pericardial effusion, Constrictive pericarditis |
OMIM:260900 |
Senior-Loken Syndrome 3 |
|
Polydipsia, Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic k... |
OMIM:606995 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Single umbilical artery, Left ventricular noncomp... |
OMIM:613426 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphedema |
ORPHA:1116 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Lymphedema |
OMIM:616006 |
Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Hepatomegaly, Hepatosplenomegaly, Edema, Ascites, Pericardial... |
OMIM:608776 |
Malignant Atrophic Papulosis |
|
Telangiectasia of the skin, Abnormal pericardium morphology, Peritonitis, Myocardial infarction, ... |
ORPHA:679 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... |
OMIM:252011 |
Apparent Mineralocorticoid Excess |
|
Polydipsia, Left ventricular hypertrophy, Abnormal urine sodium concentration, Renal insufficienc... |
ORPHA:320 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Polyuria, Hydronephrosis, Polydipsia |
OMIM:304900 |
C3 Glomerulopathy 3 |
|
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease |
OMIM:614809 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites |
ORPHA:69735 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Inflammatory abnormality of the skin, Episodic tachypnea, Atrial septal def... |
ORPHA:26793 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Lymphedema |
OMIM:613089 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Patent ductus arteri... |
OMIM:239850 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Edema |
OMIM:178400 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Left ventricular hypertrophy, Intracranial hemorrhage, Epistaxis, Hypercalciuria, Hyp... |
ORPHA:251274 |
Alpha-Thalassemia |
|
Cholelithiasis, Splenomegaly, Hydrops fetalis, Jaundice, Hypersplenism |
ORPHA:846 |
Glaucoma 3, Primary Congenital, E |
|
Edema |
OMIM:617272 |
Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Oligohydramnios, Lymphedema |
OMIM:613623 |
Q Fever |
|
Respiratory distress, Hepatomegaly, Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis... |
ORPHA:781 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Micropenis, Hypospadias, Hydrops fetalis, Ventricular septal defect, Polyhyd... |
OMIM:616897 |
Boomerang Dysplasia |
|
Decreased response to growth hormone stimulation test, Aplasia/Hypoplasia of the abdominal wall m... |
ORPHA:1263 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Cholelithiasis, Ventricular septal defect, Hyperventilation, Persis... |
OMIM:618775 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria |
ORPHA:514 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction, Acute kidney in... |
ORPHA:542323 |
Galloway-Mowat Syndrome 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria |
OMIM:618347 |
Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Pedal edema, Coronary artery aneurysm, Cardiomegaly, Abno... |
ORPHA:2041 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema |
ORPHA:3137 |
Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... |
OMIM:616501 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Hypercalciuria, Nephrocalcin... |
OMIM:143880 |
Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomerulosclerosis, ... |
OMIM:617575 |
Infection-Related Hemolytic Uremic Syndrome |
|
Nephrotic range proteinuria, Myocarditis, Oliguria, Acute kidney injury, Hypertensive crisis, Dec... |
ORPHA:544482 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Raynaud phenomenon, Hypertension, Nephropathy, Retinal neovascularization, Proteinuria, Gastroint... |
ORPHA:247691 |
Kaposiform Lymphangiomatosis |
|
Bruising susceptibility, Pancreatic cysts, Abnormal bleeding, Splenomegaly, Abnormal spleen morph... |
ORPHA:464329 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Polyuria, Hypercalciuria, Polydipsia |
OMIM:613677 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Lymphedema |
ORPHA:79279 |
Cholestasis-Lymphedema Syndrome |
|
Lymphedema, Splenomegaly |
ORPHA:1414 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis |
OMIM:607823 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
Tenosynovial Giant Cell Tumor |
|
Joint swelling, Lymphedema |
ORPHA:66627 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Nonproductive cough, Crackles, Decreased DLCO, Tachypnea, Peripheral edema, Pleural ef... |
ORPHA:79126 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Hypoplasia of the thymus, Hydrops fetalis, Oligohydramnios, Ventricular septal defec... |
OMIM:617022 |
Drug-Induced Lupus Erythematosus |
|
Petechiae, Malar rash, Prolonged QTc interval, Dyspnea, Pericarditis, Pericardial effusion |
ORPHA:231111 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Glomerular sclerosis |
OMIM:619428 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Bruising susceptibility, Splenomegaly, Cirrhosis, Biliary tract obstruction, Gingiv... |
ORPHA:77259 |
Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... |
ORPHA:1652 |
Lysinuric Protein Intolerance |
|
Argininuria, Oroticaciduria, Hepatomegaly, Oral aversion, Decreased glomerular filtration rate, A... |
ORPHA:470 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Congestive heart failure, Positive regitine blocki... |
ORPHA:29072 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis |
OMIM:616963 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis, Neonatal death, Endocardial fibroelastosis |
OMIM:276822 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hypertension, Acute kidney injury, Hemolytic-uremic syndrome |
OMIM:235400 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Decreased beta-galactosidase activity,... |
OMIM:230500 |
Nephronophthisis 11 |
|
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disinteg... |
OMIM:613550 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria, Hypertension |
ORPHA:220 |
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis |
|
Granulomatous coronary arteritis, Iritis, Rheumatoid arthritis, Vascular dilatation, Hypertension... |
OMIM:108050 |
Mosaic Trisomy 9 |
|
Atrial septal defect, Hypoplasia of penis, Hypoplastic female external genitalia, Camptodactyly o... |
ORPHA:99776 |
Capillary Malformation-Arteriovenous Malformation |
|
Abnormal heart morphology, Arteriovenous malformation, High-output congestive heart failure, Peri... |
ORPHA:137667 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... |
ORPHA:860 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
Ring Chromosome 22 Syndrome |
|
Pleural effusion, Lymphedema, Edema |
ORPHA:1446 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Macroscopic hematuria, Pulmonary embolism, Focal segmental glomeruloscler... |
ORPHA:567546 |
Mucopolysaccharidosis Type 7 |
|
Arteriovenous malformation, Splenomegaly, Hydrops fetalis, Hepatitis, Lymphedema, Umbilical herni... |
ORPHA:584 |
Trisomy 1Q |
|
Congenital diaphragmatic hernia, Camptodactyly of finger, Hydrops fetalis, Ventricular septal def... |
ORPHA:261344 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Nephrolithiasis, Polydipsia, Intracranial hemorrhage, Ventricular septal defect, Second degree at... |
ORPHA:369929 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Cronkhite-Canada Syndrome |
|
Lymphedema, Splenomegaly |
ORPHA:2930 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Cirrhosis, Nonimmune hydrops fetalis, Elevated circulating aspartate aminotransf... |
OMIM:617049 |
German Syndrome |
|
Lymphedema |
ORPHA:2077 |
Radiation Proctitis |
|
Abnormal vascular morphology, Arteritis, Abnormal gastrointestinal vascular morphology, Hematochezia |
ORPHA:70475 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatomegaly, Hepatic failure, Hemothorax, Myocardit... |
ORPHA:99827 |
Free Sialic Acid Storage Disease |
|
Hydrops fetalis, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:834 |
Cardiac Valvular Dysplasia 1 |
|
Mitral stenosis, Tricuspid valve prolapse, Tricuspid atresia, Tricuspid regurgitation, Hydrops fe... |
OMIM:212093 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Nonimmune hydrops fetalis, Ventricular septal defect, Single umbil... |
OMIM:265380 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis |
OMIM:249660 |
Trisomy 13 |
|
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Abnormal morphology of female i... |
ORPHA:3378 |
Maternal Uniparental Disomy Of Chromosome X |
|
Predominantly lower limb lymphedema |
ORPHA:261519 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Nonimmune hydrops fetalis |
ORPHA:477774 |
Liddle Syndrome |
|
Nephropathy, Arrhythmia, Cerebral ischemia, Renal insufficiency, Hypertension |
ORPHA:526 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Hydrops fetalis, Prolonged neonatal jaundice, Reduced red cell pyruvate kinase level, Splenomegaly |
ORPHA:766 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion, Perianal abscess |
OMIM:614684 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Atrial septal defect, Hepatomegaly, Nephritis, Splenomegaly, Renal tubular at... |
OMIM:617303 |
Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Tachycardia, Hematuria, Hypotension, Atrial fibrillation, Shock, Renal... |
ORPHA:31826 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Vasculitis, Arthritis, Cerebral is... |
ORPHA:3287 |
Schimke Immuno-Osseous Dysplasia |
|
Congestive heart failure, Nephrotic range proteinuria, Nephropathy, Cerebral ischemia, Focal segm... |
ORPHA:1830 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, P... |
ORPHA:563 |
Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Malar rash, Skin rash, Raynaud phenomenon, Increased circulating lactate dehy... |
ORPHA:93552 |
Duplication Of Urethra |
|
Bladder duplication, Chordee, Dysuria, Distal urethral duplication, Epispadias, Micropenis, Hyper... |
ORPHA:237 |
Farber Disease |
|
Respiratory distress, Joint swelling, Abnormal enzyme/coenzyme activity, Cherry red spot of the m... |
ORPHA:333 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy, Anemia, Premature birth |
OMIM:618839 |
Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, S... |
ORPHA:75249 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, St... |
OMIM:616307 |
Pulmonary Arteriovenous Malformation |
|
Telangiectasia, Bacterial endocarditis, Hemothorax, Abnormal bleeding, Pulmonary hemorrhage, Palp... |
ORPHA:2038 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Nonimmune hydrops fetalis, Neonatal death, Anemia, Hypertrophic cardiomyopathy, Premature birth |
OMIM:618835 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Palpitations, Heart murmur, Syncope, Abnormal cardiovascul... |
ORPHA:422 |
Gm1 Gangliosidosis |
|
Abnormal heart morphology, Cherry red spot of the macula, Splenomegaly, Aspiration pneumonia, Dec... |
ORPHA:354 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hydrops fetalis, Hepatocellular carcinoma, Elevated hepatic transaminase, Cardiomyopathy, Respira... |
ORPHA:88618 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Hypotension, Oliguria, Acute kid... |
ORPHA:466650 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Prolonged prothrombin time, Nonimmune hydrops fetalis, Pericardial effusion, Elevat... |
OMIM:212065 |
Chromomycosis |
|
Predominantly lower limb lymphedema, Lymphedema, Edema |
ORPHA:182 |
Teratoma, Pineal |
|
Polyuria, Polydipsia |
OMIM:273120 |
Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Thin glomer... |
OMIM:615244 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Lymphedema |
OMIM:247410 |
Monosomy 18P |
|
Lymphedema |
ORPHA:1598 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Lymphedema |
OMIM:152950 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Nonimmune hydrops fetalis, Premature birth, Cardiomegaly |
OMIM:618838 |
Mucopolysaccharidosis, Type Vii |
|
Airway obstruction, Hepatomegaly, Splenomegaly, Hydrops fetalis, Umbilical hernia, Abnormal heart... |
OMIM:253220 |
Galactosialidosis |
|
Decreased beta-galactosidase activity, Cherry red spot of the macula, Hepatosplenomegaly, Nonimmu... |
OMIM:256540 |
Cardiac-Urogenital Syndrome |
|
Ventricular septal defect, Patent urachus, Prolonged bleeding time, Tracheomalacia, Tachycardia, ... |
OMIM:618280 |
Schimke Immunoosseous Dysplasia |
|
Nephrotic syndrome, Cerebral ischemia, Focal segmental glomerulosclerosis, Proteinuria, Renal ins... |
OMIM:242900 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... |
OMIM:616249 |
Immunodeficiency 59 And Hypoglycemia |
|
Herpes simplex encephalitis, Recurrent skin infections, Acne inversa, Recurrent aphthous stomatit... |
OMIM:233600 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... |
ORPHA:85451 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Micropenis, Polyuria, Situs inversus totalis, Dextrocardia, Renal cyst, Stage 5 chron... |
OMIM:615994 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema |
OMIM:153400 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Abnormal renal physiology, Orthostatic hypotension, Tachycardia, Hypertension, Glomerular sclerosis |
OMIM:223900 |
Galloway-Mowat Syndrome 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypertension, Stage 5 chronic kidne... |
OMIM:617729 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Myocardial infarction, Nephrocalcinosis, Hypertension, Congestive heart failure |
OMIM:614473 |
Lymphangiectasia, Intestinal |
|
Pedal edema, Stillbirth, Edema |
OMIM:152800 |
Juvenile Idiopathic Arthritis |
|
Joint swelling, Hepatomegaly, Skin rash, Splenomegaly, Pericardial effusion, Psoriasiform dermatitis |
ORPHA:92 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Medial calcification of medium-sized arteries, Stroke, Aortic dissection, V... |
ORPHA:51608 |
Senior-Boichis Syndrome |
|
Renal atrophy, Chronic kidney disease, Polydipsia, Reduced renal corticomedullary differentiation... |
ORPHA:84081 |
Alport Syndrome 2, Autosomal Recessive |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... |
OMIM:203780 |
Naxos Disease |
|
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... |
OMIM:601214 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Atrial septal defect, Thyroid lymphangiectasia, Erysipelas, Spina bifida occulta, Ventricular sep... |
OMIM:235510 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
Alg8-Cdg |
|
Hydrops fetalis, Elevated hepatic transaminase, Edema, Oligohydramnios, Premature birth, Ascites |
ORPHA:79325 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Myocardial infarction, Stroke, Hypertension, Coronary artery stenosis |
OMIM:615812 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Mitral regurgitation, Mitral valve prolapse, Polycystic kidney dysplasia, Renal insufficiency, Hy... |
OMIM:173900 |
Listeriosis |
|
Osteomyelitis, Stroke, Pustule, Arteritis, Peritonitis, Endocarditis, Myocarditis, Cholecystitis,... |
ORPHA:533 |
Idiopathic Pulmonary Arterial Hypertension |
|
Edema of the dorsum of feet, Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations... |
ORPHA:275766 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Small placenta, Asthma, Oligohydramnios |
ORPHA:397590 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Petechiae, Hepatomegaly, Hepatic failure, Splenomegaly, Hepatospleno... |
OMIM:608013 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Pollakisuria |
ORPHA:95626 |
Gitelman Syndrome |
|
Polydipsia, Proteinuria, Renal potassium wasting, Prolonged QT interval, Renal tubular acidosis, ... |
ORPHA:358 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Focal segmental ... |
OMIM:614748 |
Poems Syndrome |
|
Abnormality of skin physiology, Ascites, Pleural effusion, Restrictive ventilatory defect, Edema,... |
ORPHA:2905 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Chronic tubulointerstitial nephritis, Nephrono... |
OMIM:602088 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Hypomagnesemia 3, Renal |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Polydipsia, Renal tubular acidosi... |
OMIM:248250 |
Cholera |
|
Abnormality of renal excretion, Hypovolemic shock, Tachycardia, Hypotension, Acute kidney injury,... |
ORPHA:173 |
Familial Exudative Vitreoretinopathy |
|
Macular edema, Lymphedema |
ORPHA:891 |
Campomelia, Cumming Type |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
ORPHA:1318 |
Dahlberg-Borer-Newcomer Syndrome |
|
Lymphedema |
ORPHA:1563 |
Galloway-Mowat Syndrome 9 |
|
Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Osteogenesis Imperfecta, Type Ii |
|
Pulmonary insufficiency, Respiratory insufficiency, Nonimmune hydrops fetalis, Premature birth, C... |
OMIM:166210 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Airway obstruction, Anomalous pulmonary venous return, Atrial arrhyt... |
ORPHA:99105 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cryptorchidism, Flexion contracture, Hydrops fetalis, Increased placental thickness, Encephalocel... |
ORPHA:1865 |
Gaucher Disease Type 3 |
|
Aortic valve calcification, Hepatomegaly, Splenomegaly, Hydrops fetalis, Mitral valve calcificati... |
ORPHA:77261 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Hydrops fetalis, Congenital thrombocytopenia, Neutropenia, Anemia, Thrombocytop... |
OMIM:616738 |
Alagille Syndrome 2 |
|
Renal tubular acidosis, Atrial septal defect, Pulmonic stenosis, Hematuria, Tetralogy of Fallot, ... |
OMIM:610205 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Elevated pulmonary artery pressure, Renal cortical hyperechogenicity, Fetal megacystis, Pyeloneph... |
OMIM:619351 |
Buschke-Ollendorff Syndrome |
|
Lymphedema |
ORPHA:1306 |
Mgat2-Cdg |
|
Respiratory distress, Abnormal bleeding, Reduced level of N-acetylglucosaminyltransferase II, Hyd... |
ORPHA:79329 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular hypertrophy, Mitral reg... |
OMIM:619167 |
Klippel-Trenaunay-Weber Syndrome |
|
Lymphedema |
OMIM:149000 |
Nephrogenic Diabetes Insipidus |
|
Polydipsia, Hypovolemia, Hydroureter, Hyposthenuria, Functional abnormality of the bladder, Renal... |
ORPHA:223 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Hematemesis, Skin rash, Splenomegaly, Atopic dermatitis, Oligohydramnios, Chilblain... |
OMIM:615846 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Pulmonary lymphangiectasia, Chylous ascites, Palpebral edema, Nonimmun... |
OMIM:265300 |
Tyrosinemia, Type I |
|
Melena, Hepatomegaly, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Enlarged kidney, ... |
OMIM:276700 |
Achondrogenesis, Type Ii |
|
Polyhydramnios, Hydrops fetalis, Stillbirth, Edema |
OMIM:200610 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Holosystolic mu... |
ORPHA:99095 |
Brucellosis |
|
Transient ischemic attack, Osteomyelitis, Orchitis, Arteritis, Endocarditis, Glomerulonephritis, ... |
ORPHA:1304 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... |
OMIM:187300 |
Refsum Disease, Classic |
|
Abnormal renal physiology, Arrhythmia, Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:266500 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Jau... |
ORPHA:57777 |
Yellow Nail Syndrome |
|
Lymphedema |
ORPHA:662 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Polyhydramnios, Lymphedema, Ascites, Splenomegaly |
OMIM:235255 |
Noonan Syndrome 13 |
|
Lymphedema |
OMIM:619087 |
Complement Component 4A Deficiency |
|
Glomerulonephritis, Vasculitis |
OMIM:614380 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Abnormal lymphatic vessel morphology, Intestinal lymphangiectasia, Edema, Pl... |
ORPHA:90362 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Hyp... |
ORPHA:93108 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal lymphocytic tubulitis, Vitreous hemorrhage, Aminoaciduria, Decreased glomerular filtration ... |
ORPHA:91500 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... |
ORPHA:615 |
Igg4-Related Kidney Disease |
|
Prostatitis, Pancreatitis, Inflammatory abnormality of the skin, Arteritis, Lymphadenitis, Inters... |
ORPHA:449395 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Acute kidney injury, Proteinuria, Hypertension, Cardiomegaly |
OMIM:618886 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Nonimmune hydrops fetalis, Cholecystitis, Jaundice, R... |
OMIM:266200 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Polyhydramnios, Anasarca, Pleural effusion, Ascites, Pericardial effusion |
OMIM:618183 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Prominent veins on trunk, Bruising susceptibility, Mitral valve prolapse, Aortic root aneurysm, U... |
ORPHA:536532 |
Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular hypertrophy, Eleva... |
ORPHA:217607 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Lymphedema, Nonimmune hydrops fetalis |
OMIM:137940 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Pulmonary aterial intimal fibrosis, Right ventricular hypertrophy... |
OMIM:178600 |
Cystinosis |
|
Renal tubular dysfunction, Polydipsia, Aminoaciduria, Nephropathy, Proteinuria, Renal insufficien... |
ORPHA:213 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... |
ORPHA:1345 |
Alg9-Cdg |
|
Abnormal heart morphology, Asthma, Atrial septal defect, Tricuspid regurgitation, Periportal fibr... |
ORPHA:79328 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Ventricular septal defect, Polyhydramnios, Umbilical hernia, Abnormal heart morph... |
ORPHA:254534 |
Chédiak-Higashi Syndrome |
|
Decreased liver function, Recurrent bacterial skin infections, Jaundice, Skin rash, Bruising susc... |
ORPHA:167 |
Gitelman Syndrome |
|
Polydipsia, Polyuria, Hypocalciuria, Nocturia, Palpitations, Hypotension, Salt craving, Ventricul... |
OMIM:263800 |
Posterior Urethral Valve |
|
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... |
ORPHA:93110 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Increased urinary potassium, Palpitations, Hypertension, Epistaxis |
ORPHA:231580 |
Wells Syndrome |
|
Eosinophilia, Edema |
ORPHA:901 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small placenta |
ORPHA:73272 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hemoglobinuria, Myocardial infarction, Acute kidney injury, Hypertension, Anuria |
ORPHA:90038 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Umbilical hernia |
OMIM:269250 |
Alport Syndrome 3, Autosomal Dominant |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... |
OMIM:104200 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pericardial effusion, Pleural effusion, Splenomegaly |
OMIM:613011 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Purpura, Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
Hughes-Stovin Syndrome |
|
Pulmonary artery aneurysm, Pulmonary embolism, Vasculitis, Cough, Pedal edema, Arterial stenosis,... |
ORPHA:228116 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Atrial septal defect, Hepatomegaly, Microvesicular hepatic steatosis, Elevated circulating alkali... |
OMIM:300868 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria, Hypertension |
OMIM:123550 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Airway obstruction, Stroke, Systol... |
ORPHA:99103 |
Gm1 Gangliosidosis Type 1 |
|
Cherry red spot of the macula, Decreased beta-galactosidase activity, Aspiration pneumonia, Hepat... |
ORPHA:79255 |
Greenberg Dysplasia |
|
Echogenic fetal bowel, Hepatomegaly, Hepatic calcification, Hepatosplenomegaly, Hydrops fetalis, ... |
OMIM:215140 |
Atrial Septal Defect, Ostium Primum Type |
|
Airway obstruction, Systolic heart murmur, Left atrial enlargement, Right bundle branch block, At... |
ORPHA:99106 |
Melas |
|
Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Nephropathy, Focal segmen... |
ORPHA:550 |
Primary Sjögren Syndrome |
|
Chronic active hepatitis, Optic neuritis, Lymphocytic interstitial pneumonia, Raynaud phenomenon,... |
ORPHA:289390 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly, Congestive heart failure |
OMIM:618654 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Stroke, Subdural hemorrhage, Dehydration, Hydrops fetalis, Pulmonary emboli... |
ORPHA:79282 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Polydipsia, Renal insufficiency |
OMIM:615986 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polyuria, Megacystis, Polydipsia |
OMIM:125800 |
Cranioectodermal Dysplasia 2 |
|
Atrial septal defect, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Hydrops fetalis, ... |
OMIM:613610 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Megacystis, Polydipsia |
OMIM:304800 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis |
OMIM:616239 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, R... |
ORPHA:980 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Congenital diaphragmatic hernia, Micropenis, Hydrops fetalis, Anencephaly, ... |
OMIM:616546 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Lymphedema |
OMIM:300291 |
Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Edema, Venou... |
ORPHA:624 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Splenomegaly, Reduced level of N-acetylglucosaminyltransferase II, Hydrops fetalis,... |
OMIM:224120 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Heart murmur, Ventricular septal ... |
ORPHA:99050 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
Polycythemia Vera |
|
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Stroke, Hepatomegaly, Bruising ... |
ORPHA:729 |
Carnitine Palmitoyltransferase I Deficiency |
|
Arrhythmia, Renal tubular acidosis, Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Weakness of fa... |
OMIM:265000 |
Secondary Intestinal Lymphangiectasia |
|
Chylous ascites, Intestinal lymphedema, Lymphedema, Anasarca, Pleural effusion, Edema |
ORPHA:90363 |
Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Polydipsia, Aminoaciduria, Hyperuricosuria, Hypovolemia, Glycosuria, Global prox... |
ORPHA:47159 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Pulmonary arterial hyperte... |
OMIM:613845 |
Familial Hyperaldosteronism Type I |
|
Hypertension, Intracranial hemorrhage, Epistaxis, Polydipsia |
ORPHA:403 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
ORPHA:79 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia of the bladder, Ureterocele, Abnormality of the urinary system, Abnormality of the urethr... |
ORPHA:158684 |
Gaucher Disease |
|
Aortic valve calcification, Hepatomegaly, Cherry red spot of the macula, Abnormal pericardium mor... |
ORPHA:355 |
Clapo Syndrome |
|
Lymphedema |
ORPHA:168984 |
Hennekam Syndrome |
|
Arteriovenous malformation, Chylothorax, Splenomegaly, Pulmonary lymphangiectasia, Respiratory in... |
ORPHA:2136 |
Scimitar Syndrome |
|
Respiratory distress, Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal de... |
ORPHA:185 |
Yellow Fever |
|
Supraventricular arrhythmia, Hematemesis, Pancreatic hyperplasia, Shock, Reduced left ventricular... |
ORPHA:99829 |
Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Lymphadenitis, Lymphedema, Hypereosinophilia, Lymphadenopathy |
ORPHA:2035 |
Fibrochondrogenesis 1 |
|
Joint contracture of the hand, Hydrops fetalis, Camptodactyly, Patent foramen ovale, Stillbirth |
OMIM:228520 |
Fabry Disease |
|
Lymphedema |
OMIM:301500 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta... |
OMIM:600376 |
Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:85166 |
Distal Xq28 Microduplication Syndrome |
|
Upper eyelid edema, Predominantly lower limb lymphedema |
ORPHA:293939 |
Central Diabetes Insipidus |
|
Polydipsia, Nocturia |
ORPHA:178029 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria |
OMIM:239350 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hydrops fetalis, Hepatic fibrosis, Ascites |
OMIM:614091 |
Phelan-Mcdermid Syndrome |
|
Palpebral edema, Lymphedema |
OMIM:606232 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Pulmonary embolism |
OMIM:612336 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Nephrolithiasis, Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrop... |
OMIM:615474 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal potassium wasting, Renal magnesium wasting |
OMIM:618314 |
Infantile Systemic Hyalinosis |
|
Lymphedema |
ORPHA:2176 |
Buerger Disease |
|
Vasculitis |
ORPHA:36258 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Polydipsia, Polyuria, Hypocalciuria, Salt craving, Renal sodium wasting, Renal potassium wasting,... |
OMIM:612780 |
Bartter Syndrome, Type 3 |
|
Increased urinary potassium, Polyuria, Hypocalciuria, Hypotension, Renal potassium wasting, Hyper... |
OMIM:607364 |
Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Hepatomegaly, Aminoaciduria, Splenomegaly, Polyuria, Hypercalciuria, Hyperphosphaturia |
OMIM:239200 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Stroke, Hepatic arteriovenous malformation, Mitral regurgitation, Pulmonary arteriovenous malform... |
OMIM:175050 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Abnormal heart valve physiology, Stroke, Preeclampsia, Pulmonary embolism, Retin... |
ORPHA:464343 |
Sickle Cell Anemia |
|
Hepatomegaly, Splenomegaly, Hematuria, Renal insufficiency, Hypertension, Cardiomegaly |
OMIM:603903 |
Niemann-Pick Disease Type C |
|
Abnormality of the liver, Hepatomegaly, Jaundice, Hepatic failure, Aspiration pneumonia, Splenome... |
ORPHA:646 |
Lymphangioleiomyomatosis |
|
Chylopericardium, Chylothorax, Cough, Gastrointestinal hemorrhage, Lymphedema, Restrictive ventil... |
ORPHA:538 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Edema |
OMIM:617822 |
Grange Syndrome |
|
Bicuspid aortic valve, Coronary artery stenosis, Renovascular hypertension, Carotid artery stenos... |
OMIM:602531 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Purpura, Pulmonary embolism, Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
Helix Syndrome |
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Nephrolithiasis, Polydipsia, Polyuria, Hypocalciuria, Renal insufficiency |
OMIM:617671 |
Atrial Septal Defect, Coronary Sinus Type |
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Supraventricular arrhythmia, Unroofed coronary sinus, Anomalous pulmonary venous return, Stroke, ... |
ORPHA:99104 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Recurrent urinary tract infections, Multiple renal cysts, Situs inversus totalis, D... |
OMIM:613095 |
Timothy Syndrome |
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Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT interval, Card... |
OMIM:601005 |
Primary Erythromelalgia |
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Vasculitis |
ORPHA:90026 |
Eisenmenger Syndrome |
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Angina pectoris, Supraventricular arrhythmia, Respiratory distress, Stroke, Hepatomegaly, Atriove... |
ORPHA:97214 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
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Subcutaneous hemorrhage, Pulmonary embolism, Purpura, Abnormal cerebral vascular morphology, Veno... |
ORPHA:743 |
East Syndrome |
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Polydipsia, Salt craving, Renal magnesium wasting, Renal sodium wasting, Enuresis, Abnormal urina... |
ORPHA:199343 |
Danon Disease |
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Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, Arrhythmia, Dilated car... |
OMIM:300257 |
Cutaneous Small Vessel Vasculitis |
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Vasculitis, Skin rash, Recurrent skin infections |
ORPHA:889 |