| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
| Polyhydramnios, Chronic Idiopathic |
|
Polyhydramnios |
OMIM:263610 |
| Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts, Abnormality of the liver |
DECIPHER:47 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Hepatic cysts, Stage 5 chron... |
OMIM:614377 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Cortical tubers, Renal angiomyolipoma |
OMIM:600273 |
| Polycystic Kidney Disease 5 |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... |
OMIM:617610 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts, Decreased liver function |
OMIM:600666 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal... |
OMIM:601331 |
| Pyloric Atresia |
|
Polyhydramnios |
OMIM:265950 |
| Campomelia, Cumming Type |
|
Polycystic liver disease, Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia |
OMIM:211890 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Decreased glomerular filtration rate... |
OMIM:618061 |
| Lethal Congenital Contracture Syndrome 6 |
|
Polyhydramnios, Decreased fetal movement, Absence of stomach bubble on fetal sonography |
OMIM:616248 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Polycystic kidney dysplasia, Enlarged kidney, Asplenia, Cholestasis, Hepatomegaly, Polysplenia, H... |
OMIM:208540 |
| Infundibulopelvic Dysgenesis |
|
Microscopic hematuria, Multicystic kidney dysplasia |
OMIM:600989 |
| Congenital Pulmonary Airway Malformation |
|
Polyhydramnios, Premature birth |
ORPHA:2444 |
| Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Multiple renal ... |
OMIM:620056 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Stage 5 chronic kidney disease, Nephronophthisis, Glomerular subepithe... |
OMIM:616307 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Enlarged kidney, ... |
OMIM:263200 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Decreased glomerular filtrati... |
ORPHA:730 |
| Isolated Polycystic Liver Disease |
|
Gastroesophageal reflux, Multiple renal cysts, Hepatomegaly, Abdominal distention, Abdominal pain... |
ORPHA:2924 |
| Interstitial Nephritis, Karyomegalic |
|
Renal interstitial fibrosis, Proteinuria, Renal tubular cyst, Stage 5 chronic kidney disease, Tub... |
OMIM:614817 |
| Gallbladder Disease 1 |
|
Cholangitis, Jaundice, Cholestasis, Pancreatitis, Bile duct proliferation, Hepatic fibrosis, Elev... |
OMIM:600803 |
| Multiple Intestinal Atresia |
|
Polyhydramnios |
ORPHA:2300 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Polycystic kidney dysplasia, Jaundice, Stage 5 chronic kidney... |
OMIM:613095 |
| Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation... |
OMIM:616217 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hydrops fetalis, Polyhydramnios, Fetal ascites, Fetal pleural effusion, Fetal pericardial effusion |
OMIM:619462 |
| Sclerosing Cholangitis, Neonatal |
|
Ductal bile plugs, Jaundice, Cholestasis, Hepatic bridging fibrosis, Bile duct proliferation, Hep... |
OMIM:617394 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Abnormal tubulointerstitial morphology, Cholestatic liver disease, Chronic kidney disease, Elevat... |
OMIM:602114 |
| Renal Failure, Progressive, With Hypertension |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephriti... |
OMIM:161900 |
| Indomethacin Embryofetopathy |
|
Hydrops fetalis, Abnormal renal tubule morphology, Renal insufficiency, Cardiomyopathy, Nephropat... |
ORPHA:1909 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Polyhydramnios, Pulmonary hypoplasia, Abnormal biliary trac... |
ORPHA:3032 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Jaundice, Hypercholesterolemia, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619662 |
| Campomelia, Cumming Type |
|
Abnormality of the pancreas, Hydrops fetalis, Bowing of the long bones, Multiple renal cysts, Dea... |
ORPHA:1318 |
| Circumvallate Placenta Syndrome |
|
Polyhydramnios, Intracranial hemorrhage |
OMIM:215550 |
| Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Liver abscess, Intrahepatic cholestasis, Neoplasm of the l... |
ORPHA:69663 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
| Cystic Echinococcosis |
|
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, Re... |
ORPHA:400 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Polycystic kidney dysplasia, Renal cortical adenoma, Parathyroid carcinoma, Papillary renal cell ... |
OMIM:145001 |
| Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Proteinuria, Jaundice, Chronic kidney disease, Renal cyst, Renal insuff... |
OMIM:208500 |
| Meckel Syndrome, Type 7 |
|
Hepatosplenomegaly, Multiple glomerular cysts, Stage 5 chronic kidney disease, Cholestasis, Bile ... |
OMIM:267010 |
| Nephronophthisis-Like Nephropathy 1 |
|
Chronic pancreatitis, Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement mem... |
OMIM:613159 |
| Nephronophthisis 20 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... |
OMIM:618270 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Polyhydramnios, Pulmonary hypoplasia, Multiple renal cysts, Nephropathy, ... |
ORPHA:3033 |
| Glycogen Storage Disease Ib |
|
Hepatocellular carcinoma, Proteinuria, Protuberant abdomen, Inflammation of the large intestine, ... |
OMIM:232220 |
| Caroli Disease |
|
Polycystic kidney dysplasia, Cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Abdominal ... |
ORPHA:53035 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hypertrophy |
OMIM:115210 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Proteinuria, Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Bone cyst, Hypercalcemia |
ORPHA:2668 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Abdominal distention, Increased total bilirubin, Elevated circulating alkaline phosph... |
OMIM:174050 |
| Mirizzi Syndrome |
|
Gallbladder perforation, Jaundice, Pancreatitis, Anorexia, Abdominal distention, Elevated hepatic... |
ORPHA:521219 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
| Hyperparathyroidism 4 |
|
Parathyroid carcinoma, Osteopenia, Nephrolithiasis, Primary hyperparathyroidism, Hypercalcemia |
OMIM:617343 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia, Oligohydramnios |
OMIM:615397 |
| Hanac Syndrome |
|
Renal insufficiency, Multiple renal cysts, Hematuria |
ORPHA:73229 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Eosinophilic liver infiltration, Atopic dermatitis, Nephrotic syndrome, Membr... |
OMIM:618999 |
| Glycogen Storage Disease 0, Muscle |
|
Cardiomyopathy, Decreased muscle glycogen content, Left atrial enlargement, Left ventricular hype... |
OMIM:611556 |
| Familial Isolated Hyperparathyroidism |
|
Generalized osteoporosis, Hypophosphatemia, Nephrocalcinosis, Elevated circulating parathyroid ho... |
ORPHA:99879 |
| Caroli Syndrome |
|
Polycystic kidney dysplasia, Abnormality of the kidney, Hepatomegaly, Conjugated hyperbilirubinem... |
ORPHA:480520 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Pathologic fracture, Hyperparathyroidism, Hyperkalemia, Stage 3 c... |
OMIM:620366 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R... |
ORPHA:93109 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... |
OMIM:618773 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Renal Hypodysplasia/Aplasia 3 |
|
Hydronephrosis, Horseshoe kidney, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysp... |
OMIM:617805 |
| Nephronophthisis 2 |
|
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... |
OMIM:602088 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Feeding difficulties in infancy, Hepatomegaly, Decreased liver function, Renal cyst |
OMIM:614870 |
| Hydrops Fetalis, Nonimmune |
|
Nonimmune hydrops fetalis, Congestive heart failure, Hydrops fetalis |
OMIM:236750 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology, Hydrops fetalis, Abnormality o... |
ORPHA:2204 |
| Alveolar Echinococcosis |
|
Cholangitis, Jaundice, Biliary cirrhosis, Liver abscess, Abnormal spleen morphology, Renal cyst, ... |
ORPHA:284 |
| Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
| Boomerang Dysplasia |
|
Cryptorchidism, Abnormality of the humerus, Abnormal morphology of ulna, Hydrops fetalis, Aplasia... |
ORPHA:1263 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
| Immunodeficiency 56 |
|
Cholangitis, Recurrent infection of the gastrointestinal tract, Hepatic failure, Cirrhosis, Recur... |
OMIM:615207 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperechogenic kidneys, Proteinuria, Renal tubular atrophy, Hyperuricemia, Chronic kidney disease... |
OMIM:613092 |
| Biliary Atresia, Extrahepatic |
|
Jaundice, Extrahepatic biliary duct atresia, Bile duct proliferation, Atretic gallbladder, Hepato... |
OMIM:210500 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Stroke, Descending aortic dissection, Posterior cerebral artery stenosis, Thoracic aortic aneurys... |
OMIM:132900 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kid... |
OMIM:615382 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Descending aortic dissection, Aortic aneurysm, Thoracic aortic aneurysm, Premature coronary arter... |
OMIM:611788 |
| Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Hydrops fetalis, Polyhydramnios, Advanced ossification of carpal bone... |
OMIM:215045 |
| Diaphanospondylodysostosis |
|
Enlarged kidney, Horseshoe kidney, Absent fetal nasal bone, Cleft palate, Absent in utero ossific... |
OMIM:608022 |
| Familial Aortic Dissection |
|
Stroke, Descending aortic dissection, Aortic root aneurysm, Mucoid extracellular matrix accumulat... |
ORPHA:229 |
| Igg4-Related Aortitis |
|
Hydronephrosis, Abnormal common carotid artery morphology, Thoracic aortic aneurysm, Dilated left... |
ORPHA:449400 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatic fibrosis, Hepatomegaly, Hypoplasia of the small intestine, Polysplenia, ... |
OMIM:200995 |
| Igg4-Related Thyroid Disease |
|
Goiter, Abnormality of the pituitary gland, Hashimoto thyroiditis, Nodular goiter, Retroperitonea... |
ORPHA:64744 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Renal interstitial fibrosis, Enlarged kid... |
OMIM:619902 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Polycystic kidney dysplasia, Fat malabsorption, Enlarged kidney, Cholestasis, Protein-losing ente... |
ORPHA:731 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Hepatic cysts |
OMIM:613819 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Polycystic kidney dysplasia, Renal cortical cysts, Jaundice, Glycosuria, Pulmonary hypoplasia, Wi... |
OMIM:231680 |
| Fibromuscular Dysplasia, Arterial |
|
Renovascular hypertension, Stroke, Aortic dissection, Arterial fibromuscular dysplasia |
OMIM:135580 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased glomerular filtration rate, Dyspepsia, Hepatomegaly, Abdominal pain, Nausea, Decreased ... |
ORPHA:85450 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia |
OMIM:207731 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Abnormal thoracic spine morphology, Abnormal sacrum morphology, Dyspnea, Oste... |
ORPHA:464329 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Decreased glomerular filtration rate, Elevated circulating creatinine concentration |
OMIM:242530 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Nephronophthisis 9 |
|
Renal cortical microcysts, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613824 |
| Meckel Syndrome, Type 6 |
|
Renal cyst, Horseshoe kidney, Bile duct proliferation, Hepatic fibrosis, Cleft palate, Absent gal... |
OMIM:612284 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm |
OMIM:613780 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Jaundice, Intrahepatic cholestasis, Malabsorption, Portal inflammation, Bile duct proliferation, ... |
OMIM:602347 |
| Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Glomerulonephritis, Inflammation of the larg... |
ORPHA:2137 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Ductal bile plugs, Jaundice, Hematochezia, Elevated circulating aspartate aminotransferase concen... |
OMIM:613812 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Elevated hepatic transaminase, Elevated circulating alka... |
OMIM:616829 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatosplenomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration, Chol... |
ORPHA:79302 |
| Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Scoliosis, Metaphyseal cupping, Irregular epiphyses, Flared iliac wi... |
OMIM:184260 |
| Hyperbiliverdinemia |
|
Green urine, Elevated circulating biliverdin concentration, Cholestasis, Decreased liver function... |
OMIM:614156 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic hypoplasia, Polycystic kidney dysplasia, Renal cyst, Cholestasis, Hiatus hernia, Hepat... |
OMIM:610199 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:613876 |
| Nephronophthisis 3 |
|
Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Renal corti... |
OMIM:604387 |
| Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Angiofibromas, Renal cell carcinoma, Adenoma s... |
OMIM:613254 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Anomalous origin of left coronary artery from the pulmonary artery, Vertebral fusion, Hypoplastic... |
OMIM:618845 |
| Immunodeficiency, Common Variable, 6 |
|
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Macroscopic ... |
OMIM:613496 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Cystic renal dysplasia, H... |
OMIM:615415 |
| Meckel Syndrome 13 |
|
Flexion contracture, Polycystic kidney dysplasia, Micrognathia |
OMIM:617562 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal ins... |
OMIM:310468 |
| Pearson Marrow-Pancreas Syndrome |
|
Complex organic aciduria, Malabsorption, Renal Fanconi syndrome, Steatorrhea, Villous atrophy, He... |
OMIM:557000 |
| Glycogen Storage Disease Iv |
|
Hepatosplenomegaly, Hepatic failure, Cirrhosis, Esophageal varix, Portal hypertension, Tubulointe... |
OMIM:232500 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Descending aortic dissection, Coronary artery dissection, Ascending aortic dissection, Abdominal ... |
OMIM:615436 |
| Achondrogenesis, Type Ib |
|
Hypoplastic ilia, Breech presentation, Edema, Hydrops fetalis, Absent or minimally ossified verte... |
OMIM:600972 |
| Fetal Akinesia Deformation Sequence 4 |
|
Camptodactyly, Cryptorchidism, Decreased fetal movement, Short neck, Polyhydramnios, Kyphosis, Ro... |
OMIM:618393 |
| Galactose Mutarotase Deficiency |
|
Cholestasis, Hypergalactosemia, Hepatomegaly, Abnormal circulating enzyme concentration or activi... |
ORPHA:570422 |
| Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst |
OMIM:263630 |
| Tuberous Sclerosis 1 |
|
Adenoma sebaceum, Renal cell carcinoma, Optic nerve glioma, Renal angiomyolipoma, Renal cyst, Cho... |
OMIM:191100 |
| Atrial Fibrillation, Familial, 6 |
|
Left atrial enlargement, Left ventricular hypertrophy |
OMIM:612201 |
| Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Polyhydramnios, Fetal akinesia sequence, Neonatal death |
OMIM:619602 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Renal steatosis, Hepatic failure, Hepatic steatosis |
OMIM:261650 |
| Congenital Radioulnar Synostosis |
|
Limited pronation/supination of forearm, Congenital hip dislocation, Polydactyly, Dislocated radi... |
ORPHA:3269 |
| Acropectorovertebral Dysplasia |
|
Short thumb, Radial deviation of the 2nd finger, Finger syndactyly, Synostosis of carpal bones, T... |
OMIM:102510 |
| Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Hypertrophic cardiomyopathy, Mitral valve prolapse, Myofiber disarray, Left ventricular hypertrophy |
OMIM:614676 |
| Meckel Syndrome, Type 3 |
|
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Cleft palate, Multicystic kidney dysplas... |
OMIM:607361 |
| Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaci... |
ORPHA:882 |
| Angioedema, Hereditary, 6 |
|
Facial edema, Edema of the dorsum of hands, Angioedema |
OMIM:619363 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
| Lethal Congenital Contracture Syndrome 8 |
|
Decreased fetal movement, Distal arthrogryposis, Polyhydramnios, Death in infancy, Neonatal death... |
OMIM:616287 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Hepatomegaly, Elevated hepatic transaminase, Micronodular cirrhosis, Hepatic steatosis,... |
OMIM:301045 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Feeding difficulties, Left ventricular hypertrop... |
OMIM:616733 |
| Galactosemia I |
|
Elevated circulating aspartate aminotransferase concentration, Galactosuria, Elevated circulating... |
OMIM:230400 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Polyhydramnios |
OMIM:616868 |
| Patent Ductus Venosus |
|
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function |
OMIM:601466 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Malabsorption, Villou... |
OMIM:209920 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatocellular carcinoma, Delayed puberty, Proteinuria, Abnormality of the kidney, Hepatic fibros... |
ORPHA:369 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Siderobl... |
OMIM:205950 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis, Anorexia, Abdominal distention, Abdominal pain, Vomiting |
ORPHA:313906 |
| Symbrachydactyly Of Hands And Feet |
|
Scoliosis, Abnormality of the humerus, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia o... |
ORPHA:1570 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Pulmonic stenosis, Hydrops fetalis, Hepatomegaly, Tricuspid regurgitation, Pulmonary insufficienc... |
OMIM:619433 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Renal hamartoma, Hypophosphatemia, Nephrocalcinosis, Renal cyst, Renal insufficien... |
ORPHA:99880 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Renal cyst, Ventricular septal defect, Double outlet right ventricle, Hypospad... |
OMIM:231060 |
| Alpha-1-Antitrypsin Deficiency |
|
Jaundice, Hepatomegaly, Nephrotic syndrome, Hepatitis, Hepatic failure |
ORPHA:60 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Nephrolithiasis, Hematuria, Urolithiasis,... |
OMIM:614723 |
| Renal Hypodysplasia/Aplasia 4 |
|
Bilateral renal agenesis, Pulmonary hypoplasia, Anhydramnios, Respiratory failure |
OMIM:619887 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Jaundice, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Por... |
OMIM:607626 |
| Hardikar Syndrome |
|
Cholestasis, Hydroureter, Hepatomegaly, Prolonged neonatal jaundice, Abdominal pain, Decreased li... |
OMIM:301068 |
| Sialidosis Type 2 |
|
Dyspnea, Hydrops fetalis, Umbilical hernia, Osteoporosis, Nephropathy, Hepatomegaly, Kyphosis, Fl... |
ORPHA:87876 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Polycystic kidney dysplasia, Enlarged kidney, Short neck, Occipital encephalocele,... |
OMIM:613885 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:613124 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Cholestatic liver disease, Hepatomeg... |
OMIM:616828 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Interface hepatitis, Cholestatic liver disease, Inflammation of the large intestine, Granulomatou... |
ORPHA:562639 |
| Parathyroid Carcinoma |
|
Hypercalcemia, Renal hamartoma, Parathyroid carcinoma, Nephrocalcinosis, Hypophosphatemia, Renal ... |
ORPHA:143 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal cyst, Short neck, Hydranencephaly, Pulmonary hypoplasia, Neonatal death, Renal dysplasia, S... |
OMIM:236500 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteolysis, Hypophosphatemia, Hyperparathyroidism, Osteomalacia, Coarse metaphyseal trabeculariza... |
ORPHA:93160 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Hyperparathyroidism, Hypercalciuria, Renal tubular acidosis, Hypercalcemia |
OMIM:239199 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites, Hydrops fetalis |
ORPHA:295 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Intermittent jaundice, Biliary tract obstruction, Neoplasm of the liver, Elevated circulating alp... |
ORPHA:100085 |
| Preeclampsia |
|
Abnormality of the hepatic vasculature, Proteinuria, Abnormality of the kidney, Acute kidney inju... |
ORPHA:275555 |
| Long Qt Syndrome 3 |
|
Prolonged QTc interval, Nonimmune hydrops fetalis, Ventricular tachycardia, Hydrops fetalis, Tors... |
OMIM:603830 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid concentration, Hepa... |
OMIM:614859 |
| Intestinal Dysmotility Syndrome |
|
Feeding difficulties, Abdominal distention, Decreased intestinal transit time, Projectile vomitin... |
OMIM:620045 |
| Nephrotic Syndrome, Type 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... |
OMIM:614196 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
| Von Hippel-Lindau Syndrome |
|
Hepatic hemangioma, Renal cell carcinoma, Neoplasm of the pancreas, Pheochromocytoma, Multiple re... |
OMIM:193300 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Narrow greater sciatic notch, Short neck, Metaphyseal widening, Poly... |
OMIM:263210 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Congestive he... |
OMIM:601493 |
| Alport Syndrome |
|
Glomerular basement membrane lamellation, Mesangial hypercellularity, Abnormal aortic morphology,... |
ORPHA:63 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... |
OMIM:604169 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal metaphysis morphology, Ventricular septal defect, Atrial septal defect, Abnormal mitral ... |
ORPHA:1354 |
| Pearson Syndrome |
|
Median cleft lip and palate, Hypoparathyroidism, Hyperalaninemia, Hepatomegaly, Hypokalemia, Poor... |
ORPHA:699 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Acute kidney injury, Uric acid nephrolithiasis, Hypouricemia, Hyperuricosuria, Renal... |
OMIM:220150 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:613874 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Hydrops fetalis, Arrhythmia, Supraventr... |
ORPHA:45452 |
| Infantile Sialic Acid Storage Disease |
|
Death in childhood, Hydrops fetalis, Hydrocephalus, Hepatomegaly, Nephrotic syndrome, Osteopenia,... |
OMIM:269920 |
| Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Acute kidney injury, Enlarged kidney, Chronic kidney dise... |
ORPHA:85445 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Hyperuricemia, Chronic kidney disease, Renal cyst, Nephropathy, Focal segmental glomerulosclerosi... |
OMIM:617056 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Lung abscess, Decreased circulating beta-2-microglobulin level, Reduced natural ... |
OMIM:241600 |
| Thymic Neuroendocrine Tumor |
|
Pituitary prolactin cell adenoma, Increased circulating ACTH level, Increased circulating prolact... |
ORPHA:97289 |
| Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... |
OMIM:613642 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| Nephronophthisis 1 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:256100 |
| Paget Disease Of Bone 6 |
|
Nephrocalcinosis, Left ventricular hypertrophy |
OMIM:616833 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Jaundice, Renal cyst, Cholestasis, Steatorrhea, Hepatomegaly, Prolonged neonatal jaundice, Conjug... |
ORPHA:79303 |
| Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Hip dislocation, Slender long bone, Sacrococcygeal pilonidal abnormality, Spina bifida occulta, L... |
ORPHA:2840 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperleucinemia, Hyperisoleucinemia |
OMIM:620085 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Bicuspid aortic valve, Doub... |
OMIM:617912 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia |
OMIM:609886 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmon... |
OMIM:619003 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Hyperbilirubinemia, Incr... |
OMIM:616278 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis, Polyhydramnios |
ORPHA:1450 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Abnormality of the kidney, Abnormality of the submandibular glands, Abnormal salivar... |
ORPHA:449432 |
| Autosomal Erythropoietic Protoporphyria |
|
Abnormal circulating porphyrin concentration, Cirrhosis, Decreased liver function, Cholelithiasis... |
ORPHA:79278 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Hepatomegaly, Failure to thrive, Splenomegaly, Chronic diarrhea |
OMIM:615285 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Jaundice, Hashimoto thyroiditis, Poor appetite, Fulminant hepatitis, Hepatomegaly, Elevated hepat... |
OMIM:618549 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Death in adolescence, Polyhydramnios, Fetal ascites, Neonatal death, F... |
OMIM:620014 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Scoliosis, Ventricular septal defect, Abnormal cardiac septum morphology... |
ORPHA:1937 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection |
OMIM:617349 |
| Isolated Biliary Atresia |
|
Hypopituitarism, Jaundice, Fat malabsorption, Cholestasis, Bile duct proliferation, Atretic gallb... |
ORPHA:30391 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat... |
OMIM:612924 |
| Short Rib-Polydactyly Syndrome |
|
Polycystic kidney dysplasia, Abnormality of the kidney, Abnormal long bone morphology, Absent or ... |
ORPHA:1505 |
| Refractory Celiac Disease |
|
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, Ma... |
ORPHA:398063 |
| Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... |
OMIM:615396 |
| Parenteral Nutrition-Associated Cholestasis |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Abnormal circulating fatty-acid concentration, Conjugat... |
ORPHA:567983 |
| Igg4-Related Kidney Disease |
|
Chronic sinusitis, Inflammatory abnormality of the skin, Enlarged kidney, Urethritis, Albuminuria... |
ORPHA:449395 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Pulmonary hypoplasia, 3-Methylglutaconic aciduria, Apnea, Neonatal death |
OMIM:615228 |
| Cholesteryl Ester Storage Disease |
|
Jaundice, Hepatomegaly, Cirrhosis, Splenomegaly, Hypertriglyceridemia, Esophageal varix, Diarrhea... |
ORPHA:75234 |
| Spondylosis, Cervical |
|
Spondylolysis, Cervical spondylosis, Osteoarthritis, Spondylolisthesis, Spina bifida occulta |
OMIM:184300 |
| Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophth... |
OMIM:606966 |
| Calciphylaxis |
|
Secondary hyperparathyroidism, Ectopic ossification, Hyperphosphatemia, Stage 5 chronic kidney di... |
ORPHA:280062 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... |
OMIM:612158 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Scoliosis, Decreased fetal movement, Arthrogryposis multiplex congenita, Hip dislocation, Congeni... |
OMIM:618291 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Carcinoma, Pancreatic endocrine tumor, Renal angiomyolipoma, Carcinoid tumor, Pituitary adenoma, ... |
OMIM:610755 |
| Rhizomelic Chondrodysplasia Punctata |
|
Scoliosis, Abnormal metaphysis morphology, Abnormal epiphysis morphology, Spina bifida occulta, E... |
ORPHA:177 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic-uremic syndrome, Incr... |
OMIM:612925 |
| Congenital Myopathy 14 |
|
High palate, Decreased fetal movement, Feeding difficulties, Polyhydramnios, Respiratory insuffic... |
OMIM:618414 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Agenesis of corpus callosum, Hydrocephalus |
OMIM:166990 |
| Axial Osteomalacia |
|
Polycystic liver disease, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:109130 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtration rate, Tubu... |
OMIM:174000 |
| Band Heterotopia |
|
Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation, Hydrocephalus |
OMIM:600348 |
| Psoriasis 14, Pustular |
|
Cholangitis, Oligoarthritis, Geographic tongue, Psoriasiform dermatitis, Elevated circulating C-r... |
OMIM:614204 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615938 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat... |
OMIM:612926 |
| Meckel Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the tongue, Asplenia, Pancreatic fibrosis, Congenital hepat... |
ORPHA:564 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Esophageal atresia, Anal atresia, Enlarged kidney, Hydrocephalus, Abnormality of ... |
OMIM:314390 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Death in childhood, Abnormal renal collecting system morphology, Hip dysplasia, Short neck, Polyh... |
OMIM:616809 |
| Metaphyseal Anadysplasia |
|
Abnormal metaphysis morphology, Bowing of the long bones, Abnormal epiphysis morphology, Abnormal... |
ORPHA:1040 |
| Medullary cystic kidney disease 2 |
|
Enuresis, Renal tubular atrophy, Hyperuricemia, Tubulointerstitial nephritis, Stage 5 chronic kid... |
OMIM:603860 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia, Jaundice, Hepatic failure, Elevated hepatic transaminase |
OMIM:143500 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis, Anemia, I... |
OMIM:267700 |
| Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Periglomerular fibrosis, Polyuria, Tubular l... |
OMIM:619468 |
| Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Cholestasis, Hepatic fibrosis, Prolonged neonatal jaundice, Cirrhosis, I... |
OMIM:231100 |
| Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
| Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency... |
OMIM:615993 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Abnormality of the ureter, Polyhydram... |
ORPHA:1046 |
| Glucose-Galactose Malabsorption |
|
Vomiting, Renal insufficiency, Abdominal distention, Failure to thrive, Nephrolithiasis, Diarrhea... |
ORPHA:35710 |
| Coach Syndrome 2 |
|
Hepatic fibrosis, Elevated hepatic transaminase, Congenital hepatic fibrosis, Portal fibrosis, Hy... |
OMIM:619111 |
| Microsporidiosis |
|
Peritonitis, Myocarditis, Urethritis, Abdominal pain, Nausea, Abnormality of the spleen, Chronic ... |
ORPHA:2552 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Pancreatitis, Renal insufficiency, Hypermagnesemia, Osteomalacia, Hypocalciuria... |
OMIM:600740 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Hepatomegaly, Osteopenia, Recurrent fractures, Splenomegaly |
OMIM:618107 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Increased blood urea nitrogen, Failure to thrive, Elevated circulating thyroid-stim... |
OMIM:617872 |
| Holoprosencephaly 5 |
|
Hydrocephalus, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly, La... |
OMIM:609637 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter, Multicystic kidney dysplasia |
ORPHA:2091 |
| Glycogen Storage Disease Ixc |
|
Bile duct proliferation, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Hypertriglycerid... |
OMIM:613027 |
| Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal physiology, Decreased glomerular filtration rate, Chronic kid... |
ORPHA:94088 |
| Achondrogenesis, Type Ii |
|
Edema, Hydrops fetalis, Polyhydramnios, Broad long bones, Hypoplastic iliac wing, Stillbirth, Sho... |
OMIM:200610 |
| Small Bowel Atresia |
|
Feeding difficulties, Abdominal distention, Intrauterine growth retardation, Short stature, Failu... |
ORPHA:1201 |
| Immunodeficiency 92 |
|
Cholangitis, Hepatomegaly, Esophagitis, Pneumonia, Osteomyelitis, Sclerosing cholangitis, Chronic... |
OMIM:619652 |
| Omenn Syndrome |
|
Hypoplasia of the thymus, Hypoproteinemia, Anemia, Severe B lymphocytopenia, Eosinophilia, Thromb... |
OMIM:603554 |
| Branchiootorenal Syndrome 2 |
|
Renal dysplasia, Renal insufficiency |
OMIM:610896 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... |
OMIM:615373 |
| Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Polyhydramnios, Fetal akinesia sequence |
OMIM:300073 |
| Renal Hypodysplasia/Aplasia 2 |
|
Bilateral renal agenesis, Pulmonary hypoplasia, Anhydramnios |
OMIM:615721 |
| Holt-Oram Syndrome |
|
Scoliosis, Abnormality of the humerus, Hypoplastic left heart, Atrial septal defect, Ventricular ... |
ORPHA:392 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Micropenis, Hepatic fibrosis, Cleft palate, Hamartoma of tongue, Mic... |
OMIM:263520 |
| Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Dilated cardiomyopathy, Left ventric... |
OMIM:615248 |
| Renal Tubular Acidosis, Distal, 1 |
|
Nephrocalcinosis, Impaired urinary acidification, Hypokalemia, Nephrolithiasis, Hypocalcemia, Dis... |
OMIM:179800 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Polyhydramnios, Neonatal death |
OMIM:612138 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis, Edema, Flared elbow metaphyses, Polyhydramnios, Short long bone |
ORPHA:1423 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Protuberant abdomen, Enlarged kidney, Umbilical hernia, Wide anterior fontanel, Sacral dimple, Ky... |
OMIM:618272 |
| Nemaline Myopathy 10 |
|
Decreased fetal movement, Breech presentation, Polyhydramnios, Death in infancy, Neonatal death, ... |
OMIM:616165 |
| Meckel Syndrome, Type 5 |
|
Cleft palate, Bile duct proliferation, Renal cyst |
OMIM:611561 |
| Tuberous Sclerosis Complex |
|
Polycystic kidney dysplasia, Abnormality of the kidney, Subependymal nodules, Retinal hamartoma, ... |
ORPHA:805 |
| Radiculoneuropathy, Fatal Neonatal |
|
Death in childhood, Polyhydramnios |
OMIM:266250 |
| Mosaic Trisomy 1 |
|
Renal cortical cysts, Pulmonary artery atresia, Increased nuchal translucency, Camptodactyly of f... |
ORPHA:1692 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Cryptorchidism, Fetal akinesia sequence, Micropenis, Hydrops fetalis, Dilated cardiomyopathy, Hyp... |
OMIM:618815 |
| Czeizel-Losonci Syndrome |
|
Hydronephrosis, High palate, Hydrocephalus, Thoracolumbar scoliosis, Hypoplastic nipples, Pulmona... |
ORPHA:2437 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Type 1 muscle fiber predominance, Muscular dystrophy, Skeletal muscle atr... |
OMIM:253700 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
| Birt-Hogg-Dube Syndrome |
|
Cutaneous leiomyoma, Renal neoplasm, Renal cell carcinoma, Trichodiscoma, Colon cancer, Renal cys... |
OMIM:135150 |
| Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal colic, Abdominal distention, Diarrhea, Vomiting |
ORPHA:35122 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Short thumb, Horseshoe kidney, Patellar dislocation, Carpal synostosis, Fibular ... |
OMIM:274000 |
| Familial Cerebral Saccular Aneurysm |
|
Subarachnoid hemorrhage, Abnormal circle of Willis morphology, Aortic root aneurysm, Intracranial... |
ORPHA:231160 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Horseshoe kidney, Ectopic kidney, Lateral ventricle dilatation, Ventriculomegaly, ... |
OMIM:602200 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Prominent metopic ridge, Cholestasis, Short metatarsal, Hepatomegaly, Short toe, Phalangeal cone-... |
OMIM:266920 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Rickets, Hypophosphatemia, Renal phosphate wasting, Hyperparathyroidism, Elevated circulating par... |
OMIM:612089 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Miscarriage, Abnormality of the kidney, Polyhydramnios, Increased plac... |
ORPHA:1041 |
| Bile Acid Conjugation Defect 1 |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ala... |
OMIM:619232 |
| Lethal Congenital Contracture Syndrome 11 |
|
Camptodactyly, Decreased fetal movement, Distal arthrogryposis, Polyhydramnios, Pulmonary hypopla... |
OMIM:617194 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Micropenis, Lateral ventricle dilatation |
OMIM:300982 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hydronephrosis, Fractured radius, Micropenis, Hydrops fetalis, Short neck, Polyhydramnios, Pulmon... |
OMIM:616897 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in childhood, Decreased fetal movement, Polyhydramnios, Death in infancy, Neonatal death, H... |
OMIM:619334 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Scoliosis, Atrial septal defect, Ventricular septal defect, Abnormal epi... |
ORPHA:1388 |
| Atelosteogenesis Type I |
|
Malrotation of colon, Scoliosis, Absent or minimally ossified vertebral bodies, Coronal cleft ver... |
ORPHA:1190 |
| Diffuse Neonatal Hemangiomatosis |
|
Hydrops fetalis, Polyhydramnios, Renal insufficiency, Renal hypoplasia/aplasia, Hepatomegaly, Pre... |
ORPHA:2123 |
| Nemaline Myopathy 9 |
|
Polyhydramnios, Fetal akinesia sequence, Breech presentation |
OMIM:615731 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:609820 |
| Achondrogenesis Type 1A |
|
Hydrops fetalis, Short neck, Polyhydramnios, Umbilical hernia, Abnormal enchondral ossification, ... |
ORPHA:93299 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, High palate, Scoliosis, Decreased fetal movement, Hydrops fetal... |
OMIM:255320 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Renal cyst, Steatorrhea, Hepatic fibrosis, Hepatomegaly, Protein-losing enteropathy, Cirrhosis, V... |
OMIM:602579 |
| Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia |
OMIM:618161 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Left ventricular hypertrophy, Abnormality of the shoulder girdle musculature, Elevated circulatin... |
ORPHA:206546 |
| Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Death in childhood, Cryptorchidism, Decreased fetal movement, Short neck, Polyhydramnios, Death i... |
OMIM:618766 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal metacarpal morphology, Abnormal morphology of uln... |
ORPHA:3104 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatocellular carcinoma, Hyperammonemia, Pancreatitis, Elevated circulating alanine aminotransfe... |
OMIM:603471 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
| Achondrogenesis |
|
Abnormality of bone mineral density, Hydrops fetalis, Short neck, Polyhydramnios, Umbilical herni... |
ORPHA:932 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... |
OMIM:616002 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Feeding difficulties, Hepatomegaly, Elevated hepatic transaminase, Decreased liver function, Incr... |
OMIM:246900 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Weakness of facial musculature, Mandibular prognathia, Muscle fiber ... |
ORPHA:324604 |
| Myofibrillar Myopathy 10 |
|
Left ventricular hypertrophy, Mandibular prognathia, Knee flexion contracture, EMG: myopathic abn... |
OMIM:619040 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615937 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Steatorrhea, Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Pancreatic fibrosis, Exocrine pan... |
OMIM:616263 |
| Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Proteinuria, Glomerulopathy, Renal insufficiency |
OMIM:611771 |
| Brachyolmia Type 1, Hobaek Type |
|
Scoliosis, Short neck, Flat acetabular roof, Sclerotic foci of metaphyses of the elbow, Short ili... |
OMIM:271530 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Urinary incontinence, Asymmetry of spinal facet joints, Sacral d... |
OMIM:182940 |
| Renal Dysplasia |
|
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... |
ORPHA:93108 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Pyloric stenosis, Aminoaciduria, Hepatic failure, Splenomegaly |
ORPHA:664 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Hydrops fetalis, Hepatomegaly, Chylopericardi... |
ORPHA:2414 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Fetal pyelectasis, Unilateral wrist flexion contracture, Pulmonary hypoplasia, Knee flexion contr... |
OMIM:616531 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Hepatosplenomegaly, Cholangitis, Abnormal intestine morphology, Cirrhosis,... |
ORPHA:228426 |
| Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Left ventricular hypertrophy |
OMIM:613694 |
| Cholesteryl Ester Storage Disease |
|
Reduced lysosomal acid lipase activity, Low alkaline phosphatase, Hepatomegaly, Elevated gamma-gl... |
OMIM:278000 |
| Pierre Robin Syndrome |
|
Cor pulmonale, Micrognathia |
OMIM:261800 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
| Renal Cysts And Diabetes Syndrome |
|
Abnormal renal morphology, Abnormality of the kidney, Ureteropelvic junction obstruction, Abnorma... |
OMIM:137920 |
| Inflammatory Pseudotumor Of The Liver |
|
Biliary tract abnormality, Neoplasm of the liver, Abnormal liver sonography, Elevated circulating... |
ORPHA:90003 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Glomerular C3 deposi... |
ORPHA:567544 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Mitral valve prolapse, Abnormal metacarpal morphology, Abnormal morphology of ulna, Short neck |
ORPHA:2233 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Proteinuria, Renal tubular atrophy, Gastroesophageal reflux, Diffuse mesangial s... |
OMIM:256300 |
| Schneckenbecken Dysplasia |
|
Nonimmune hydrops fetalis, Ovoid vertebral bodies, Short neck, Polyhydramnios, Flat acetabular ro... |
OMIM:269250 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Polyhydramnios, Lateral ventricle dilatation |
OMIM:618266 |
| Pseudoachondroplasia |
|
Scoliosis, Generalized joint laxity, Wind-swept deformity of the knees, Increased laxity of ankle... |
ORPHA:750 |
| Galactose Epimerase Deficiency |
|
Jaundice, Feeding difficulties, Hepatomegaly, Aminoaciduria, Nausea and vomiting, Splenomegaly, W... |
ORPHA:79238 |
| Nemaline Myopathy 8 |
|
Polyhydramnios, Fetal akinesia sequence, Death in infancy, Decreased fetal movement |
OMIM:615348 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hyperammonemia, Feeding difficulties, Hepatomegaly, Elevated circulating branched chain amino aci... |
ORPHA:2394 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis |
OMIM:615503 |
| Achondrogenesis Type 1B |
|
Hydrops fetalis, Short neck, Polyhydramnios, Umbilical hernia, Abnormal enchondral ossification, ... |
ORPHA:93298 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Abnormality of the amniotic fluid, Neonatal respiratory distress, Miscarriage, Respiratory infect... |
ORPHA:96179 |
| Fountain Syndrome |
|
Craniofacial hyperostosis, Short distal phalanx of finger, Scoliosis, Abnormal form of the verteb... |
ORPHA:3219 |
| Nephronophthisis 18 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Cholestasis,... |
OMIM:615862 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Jaundice, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Elevated hepati... |
OMIM:607765 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hydronephrosis, Jaundice, Hyperammonemia, Elevated circulating aspartate aminotransferase concent... |
OMIM:617093 |
| Primary Membranoproliferative Glomerulonephritis |
|
Microscopic hematuria, Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic ... |
ORPHA:54370 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... |
ORPHA:174 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Abdominal distention, Cachexia, Abdominal pain, Constipation, Gastrointestinal dys... |
OMIM:613662 |
| Pontocerebellar Hypoplasia, Type 1E |
|
Polyhydramnios, Death in infancy |
OMIM:619303 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis, Abnormality of the liver |
ORPHA:140976 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Meckel Syndrome, Type 2 |
|
Cleft palate, Bile duct proliferation, Intestinal malrotation, Renal cyst |
OMIM:603194 |
| Brachydactyly, Type B1 |
|
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Vertebral fusion, Ventricu... |
OMIM:113000 |
| Arthrogryposis, Distal, Type 2A |
|
Scoliosis, Hip dislocation, Joint dislocation, Flexion contracture of finger, Rocker bottom foot,... |
OMIM:193700 |
| Primary Effusion Lymphoma |
|
Abnormality of the peritoneum, Dyspnea, Abdominal distention, Abdominal pain, Pericardial effusio... |
ORPHA:48686 |
| Trehalase Deficiency |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:103909 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Hepatocellular carcinoma, Nausea and vomiting, Jaundice, Cholestatic liver disease, Pancreatitis,... |
ORPHA:65682 |
| Ceroid storage disease |
|
Hepatic failure, Abnormality of the spleen |
OMIM:214200 |
| Hypophosphatemic Rickets |
|
Rickets, Nephrocalcinosis, Renal phosphate wasting, Hyperparathyroidism, Elevated circulating par... |
ORPHA:437 |
| Carpenter Syndrome 1 |
|
Scoliosis, Hydroureter, Polysplenia, Preaxial foot polydactyly, Aplasia/Hypoplasia of the middle ... |
OMIM:201000 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Amniotic constriction ring, Abnormal cortical bone morphology, Short neck, Polyhydramnios, Abnorm... |
ORPHA:1486 |
| Glycogen Storage Disease Ia |
|
Delayed puberty, Proteinuria, Hyperuricemia, Enlarged kidney, Decreased glomerular filtration rat... |
OMIM:232200 |
| Hypophosphatasia, Infantile |
|
Craniosynostosis, Recurrent respiratory infections, Nephrocalcinosis, Phosphoethanolaminuria, Pol... |
OMIM:241500 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Reduced bone mineral density, Short neck, Kyphosis, Hypoplasia of penis, Spina bifida occulta, Ge... |
ORPHA:2983 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cholangitis, Tubulointerstitial nephritis, Cholestasis, Hypertyrosinemia, Feeding difficulties in... |
OMIM:124000 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Postaxial oligodactyly, Atrial septal defect, Aplasia/Hypoplasia of the fibula, Short 5th finger,... |
ORPHA:52056 |
| Dubin-Johnson Syndrome |
|
Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia |
OMIM:237500 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Death in childhood, Albuminuria, Hepatomegaly, Prolonged neonatal jaundice, Epiphyseal stippling,... |
OMIM:214100 |
| Distal Duplication 14Q |
|
Abnormal aortic morphology, Short stature, Patent ductus arteriosus, Abnormality of the upper uri... |
ORPHA:1705 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrops fetalis, Polyhydramnios, Hepatomegaly, Congestive heart failure, Oligohydramnios, Pericar... |
ORPHA:163596 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Stage 5 chronic kidney disease, Renal insuffi... |
OMIM:137950 |
| Acrodysplasia Scoliosis |
|
Scoliosis, Spina bifida occulta, Vertebral segmentation defect, Brachydactyly |
ORPHA:2956 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Oligohydramnios |
ORPHA:3316 |
| Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:604213 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Pancreatitis, Hypermagnesemia, Hypocalciuria, Hypercalciuria, Nephrolithiasi... |
OMIM:145980 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis |
OMIM:613944 |
| Hydrocephalus, Autosomal Dominant |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:123155 |
| Free Sialic Acid Storage Disease |
|
Recurrent respiratory infections, Proteinuria, Reduced bone mineral density, Hydrops fetalis, Hep... |
ORPHA:834 |
| Congenital Disorder Of Glycosylation, Type If |
|
Renal cortical cysts, Feeding difficulties, Wide anterior fontanel, Death in infancy, Flexion con... |
OMIM:609180 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Hand polydactyly, Abnormal 3rd finger morphology, Pulmonic stenosis, Atrial septal d... |
OMIM:249670 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Hemophagocytosis, Anemia, Increased total biliru... |
OMIM:603553 |
| Dysspondyloenchondromatosis |
|
Scoliosis, Abnormality of fibula morphology, Multiple enchondromatosis, Anisospondyly, Platyspond... |
ORPHA:85198 |
| Partial Atrioventricular Septal Defect |
|
Hypoplastic left heart, Bacterial endocarditis, Tetralogy of Fallot, Transient ischemic attack, A... |
ORPHA:1330 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Death in infancy, Hepatomegaly, Fle... |
OMIM:608540 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, EMG: myopathic abnormalities, Right ventricular hypertrophy, Achilles tendon contra... |
ORPHA:353 |
| Tracheal Agenesis |
|
Polyhydramnios |
ORPHA:3346 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
