| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
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) |
|
Abnormality of the liver, Multiple renal cysts |
DECIPHER:47 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney dis... |
OMIM:614377 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia, Cortical tubers |
OMIM:600273 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
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 |
|
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... |
OMIM:601331 |
| Pyloric Atresia |
|
Polyhydramnios |
OMIM:265950 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease, Polysplenia |
OMIM:211890 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... |
OMIM:618061 |
| Lethal Congenital Contracture Syndrome 6 |
|
Polyhydramnios, Absence of stomach bubble on fetal sonography, Decreased fetal movement |
OMIM:616248 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro... |
OMIM:208540 |
| Polycystic Kidney Disease 7 |
|
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... |
OMIM:620056 |
| Senior-Loken Syndrome 8 |
|
Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney disease, Hepatic cyst... |
OMIM:616307 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Increased total bilirubin, Feeding difficul... |
ORPHA:2924 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Congenital Pulmonary Airway Malformation |
|
Polyhydramnios, Premature birth |
ORPHA:2444 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... |
OMIM:263200 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ... |
OMIM:614817 |
| Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
| Multiple Intestinal Atresia |
|
Polyhydramnios |
ORPHA:2300 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated gamma-glutamyltransferase level, Recurrent urinary tract infections, Elevated circulatin... |
OMIM:613095 |
| Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... |
OMIM:616217 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal pericardial effusion, Fetal ascites, Hydrops fetalis, Polyhydramnios, Fetal pleural effusion |
OMIM:619462 |
| Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... |
OMIM:161900 |
| Circumvallate Placenta Syndrome |
|
Polyhydramnios, Intracranial hemorrhage |
OMIM:215550 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Cholestatic liver disease, Nephropathy, Chronic kidney disease, Elevated circulating hepatic tran... |
OMIM:602114 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... |
OMIM:617394 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Oligohydramnios, Abnormal biliary tract mor... |
ORPHA:3032 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Oligohydramnios, Renal insufficiency, ... |
ORPHA:1909 |
| Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Clubbing of toes, Lymphedema, Abnormally ossified vertebrae, Oligoh... |
ORPHA:1318 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... |
OMIM:619662 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Abnormal... |
ORPHA:400 |
| Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatic fibrosis, Nephritis, Renal insufficiency, Proteinuria, Renal cyst... |
OMIM:208500 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... |
OMIM:613159 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hurthle cell thyroid adenoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Hypercalcemia, Pa... |
OMIM:145001 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... |
OMIM:232220 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Stage 5 chronic... |
OMIM:267010 |
| Nuchal Bleb, Familial |
|
Hydrops fetalis, Fetal cystic hygroma, Stillbirth |
OMIM:257350 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
| Nephronophthisis 20 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... |
OMIM:617271 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Premature birth, Oligohydramnios, Join... |
ORPHA:3033 |
| Caroli Disease |
|
Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ... |
ORPHA:53035 |
| Mirizzi Syndrome |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Vomiting, Abdominal dist... |
ORPHA:521219 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Renal insufficiency, Bone cyst, Proteinuria, Glomerulopathy, Hypercalcemia |
ORPHA:2668 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts, Renal insufficiency |
OMIM:173900 |
| Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
| Fetal Akinesia Syndrome, X-Linked |
|
Polyhydramnios, Fetal akinesia sequence, Stillbirth |
OMIM:300073 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy |
OMIM:115210 |
| Meckel Syndrome, Type 11 |
|
Oligohydramnios, Polycystic kidney dysplasia |
OMIM:615397 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Membranous nephropath... |
OMIM:618999 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Hyperparathyroidism 4 |
|
Osteopenia, Parathyroid carcinoma, Nephrolithiasis, Hypercalcemia, Primary hyperparathyroidism |
OMIM:617343 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin, Elevated circulating alkaline phosphatase concentration, Renal cyst, A... |
OMIM:174050 |
| Caroli Syndrome |
|
Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho... |
ORPHA:480520 |
| Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... |
OMIM:611556 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal insufficiency... |
ORPHA:99879 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Cortical sclerosis, Stage 3 chronic kidney disease, Elevated circulating cre... |
OMIM:620366 |
| Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... |
OMIM:617805 |
| Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
| Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... |
OMIM:618773 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe... |
OMIM:620315 |
| Alveolar Echinococcosis |
|
Biliary cirrhosis, Vomiting, Cutaneous abscess, Decreased liver function, Abnormal mesentery morp... |
ORPHA:284 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Fetal ascites, Stillbirth, Flared metaphysis, Generalized osteoscl... |
OMIM:215045 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Renal cyst, Feeding difficulties in infancy, Decreased liver function |
OMIM:614870 |
| Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir... |
OMIM:210500 |
| Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure |
OMIM:236750 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of the urinary system, Abnormal cortical bone morphology, Splenomegaly, Polyhydramnio... |
ORPHA:2204 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Immunodeficiency 56 |
|
Recurrent pneumonia, Hepatic failure, Recurrent otitis media, Recurrent infection of the gastroin... |
OMIM:615207 |
| Boomerang Dysplasia |
|
Finger syndactyly, Decreased response to growth hormone stimulation test, Abnormal tibia morpholo... |
ORPHA:1263 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... |
OMIM:615382 |
| Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, In... |
ORPHA:449400 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... |
OMIM:132900 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... |
OMIM:611788 |
| Igg4-Related Thyroid Disease |
|
Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, Sclerosing cholangitis, Hashimoto thyroidit... |
ORPHA:64744 |
| Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... |
ORPHA:229 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Vomiting, Glycosuria, Hepatic... |
OMIM:231680 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedul... |
OMIM:619902 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... |
OMIM:200995 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni... |
ORPHA:731 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Portal fibrosis, Portal infla... |
OMIM:602347 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Hepatic cysts |
OMIM:613819 |
| Fibromuscular Dysplasia, Arterial |
|
Stroke, Renovascular hypertension, Arterial fibromuscular dysplasia, Aortic dissection |
OMIM:135580 |
| Autoimmune Hepatitis |
|
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Gas... |
ORPHA:2137 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Intestinal... |
ORPHA:85450 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Decreased skull ossification, Short neck, Lumbosacral meningocele, Delayed vert... |
OMIM:608022 |
| Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... |
ORPHA:79302 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
| Hyperbiliverdinemia |
|
Cholelithiasis, Green urine, Decreased liver function, Cholestasis, Elevated circulating biliverd... |
OMIM:614156 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Hep... |
OMIM:613812 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
| Meckel Syndrome, Type 6 |
|
Hepatic fibrosis, Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Re... |
OMIM:612284 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection |
OMIM:613780 |
| Nephronophthisis 3 |
|
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal co... |
OMIM:604387 |
| Odontochondrodysplasia 1 |
|
Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ... |
OMIM:184260 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Oligohydramnios, Absenc... |
OMIM:602088 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:613876 |
| Tuberous Sclerosis 2 |
|
Chordoma, Adenoma sebaceum, Cortical tubers, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangi... |
OMIM:613254 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Verte... |
OMIM:618845 |
| Kaposiform Lymphangiomatosis |
|
Fractures of the long bones, Abnormal form of the vertebral bodies, Osteolysis, Abnormal sacrum m... |
ORPHA:464329 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
| Pearson Marrow-Pancreas Syndrome |
|
3-Methylglutaric aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:557000 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... |
OMIM:615415 |
| Meckel Syndrome 13 |
|
Flexion contracture, Micrognathia, Polycystic kidney dysplasia |
OMIM:617562 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... |
OMIM:610199 |
| Galactose Mutarotase Deficiency |
|
Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or activity, Hep... |
ORPHA:570422 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... |
OMIM:615436 |
| Hepatitis Delta |
|
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Nausea... |
ORPHA:402823 |
| Atrial Fibrillation, Familial, 6 |
|
Left atrial enlargement, Left ventricular hypertrophy |
OMIM:612201 |
| Polysyndactyly With Cardiac Malformation |
|
Renal cyst, Hepatic cysts |
OMIM:263630 |
| Tuberous Sclerosis 1 |
|
Chordoma, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, ... |
OMIM:191100 |
| Fetal Akinesia Deformation Sequence 4 |
|
Fetal pleural effusion, Absence of stomach bubble on fetal sonography, Polyhydramnios, Cryptorchi... |
OMIM:618393 |
| Achondrogenesis, Type Ib |
|
Hypoplastic ilia, Umbilical hernia, Absent or minimally ossified vertebral bodies, Breech present... |
OMIM:600972 |
| Glycogen Storage Disease Iv |
|
Hepatic failure, Hepatosplenomegaly, Abnormal circulating creatine kinase concentration, Portal h... |
OMIM:232500 |
| Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Polyhydramnios, Fetal akinesia sequence, Neonatal death |
OMIM:619602 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Renal steatosis, Hepatic steatosis |
OMIM:261650 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Enuresis nocturna, Hypospadias, Enuresis, Dilatation of the renal pelvis, Volvulus, Gastroesophag... |
OMIM:301111 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... |
ORPHA:3269 |
| Galactosemia I |
|
Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Diarrhea, Vomiting... |
OMIM:230400 |
| Acropectorovertebral Dysplasia |
|
Abnormal vertebral morphology, Toe syndactyly, Synostosis of carpal bones, Spina bifida occulta a... |
OMIM:102510 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
| Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom... |
OMIM:607361 |
| Angioedema, Hereditary, 6 |
|
Facial edema, Edema of the dorsum of hands, Angioedema |
OMIM:619363 |
| Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... |
ORPHA:882 |
| Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency |
OMIM:615987 |
| Mhc Class Ii Deficiency 1 |
|
Chronic mucocutaneous candidiasis, Recurrent urinary tract infections, Protracted diarrhea, Villo... |
OMIM:209920 |
| Lethal Congenital Contracture Syndrome 8 |
|
Death in infancy, Neonatal death, Decreased fetal movement, Distal arthrogryposis, Polyhydramnios... |
OMIM:616287 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Oligohydramnios, Left ventricular hypertrophy, Abnormal renal corticomedull... |
OMIM:616733 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... |
OMIM:613496 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Polyhydramnios |
OMIM:616868 |
| Patent Ductus Venosus |
|
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function |
OMIM:601466 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Hepatic artery hyperplasia, Tricuspid regurgitation, Ascites, Portal ... |
OMIM:619433 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:369 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Vertebral segmentation de... |
ORPHA:1570 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... |
OMIM:614723 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Renal hamartoma, Pancreatic adenocarcinoma, Thyroid carcinoma, Renal insufficie... |
ORPHA:99880 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Epiphyseal stipplin... |
OMIM:614859 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... |
OMIM:205950 |
| Congenital Pancreatic Cyst |
|
Vomiting, Anorexia, Abdominal pain, Pancreatitis, Abdominal distention, Jaundice |
ORPHA:313906 |
| Cadds |
|
Cholestasis, Cholangitis, Increased circulating very long-chain fatty acid concentration, Elevate... |
ORPHA:369942 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Ventricular septal defect, Renal cyst, Transposition of the great arteries, Do... |
OMIM:231060 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:613124 |
| Sialidosis Type 2 |
|
Nephropathy, Umbilical hernia, Ascites, Splenomegaly, Hepatomegaly, Dyspnea, Osteoporosis, Flexio... |
ORPHA:87876 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Mesomelic/rhizomelic ... |
ORPHA:1354 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... |
ORPHA:562639 |
| Alport Syndrome |
|
Thickened glomerular basement membrane, IgA deposition in the glomerulus, Renal glomerular foam c... |
ORPHA:63 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... |
OMIM:220150 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... |
OMIM:607626 |
| Parathyroid Carcinoma |
|
Nephrocalcinosis, Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Thyroid carc... |
ORPHA:143 |
| Inflammatory Pseudotumor Of The Liver |
|
Vomiting, Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormalit... |
ORPHA:90003 |
| Meckel Syndrome, Type 8 |
|
Occipital encephalocele, Hyperechogenic kidneys, Encephalocele, Anhydramnios, Short neck, Abdomin... |
OMIM:613885 |
| Aa Amyloidosis |
|
Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Vomiting, Malnutriti... |
ORPHA:85445 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia |
OMIM:620085 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Hyperbili... |
OMIM:301068 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal ... |
ORPHA:449395 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Increased nuchal translucency, Hydrops fetalis, Ascites |
ORPHA:295 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria, Hypercalcemia |
OMIM:239199 |
| Intestinal Dysmotility Syndrome |
|
Decreased intestinal transit time, Diarrhea, Failure to thrive, Feeding difficulties, Weight loss... |
OMIM:620045 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Thickened nuchal skin fold, Oligohydramnios, Decreased skull ossification, N... |
OMIM:263210 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Nonimmune hydrops fetalis, Syncope, Ventricular tachycar... |
OMIM:603830 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Hyp... |
ORPHA:93160 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c... |
OMIM:614196 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
| Pearson Syndrome |
|
Hepatic steatosis, Hypophosphatemia, Hepatomegaly, Hypoparathyroidism, Hypoplastic spleen, Dyspha... |
ORPHA:699 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:613874 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia |
OMIM:609886 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Von Hippel-Lindau Syndrome |
|
Pheochromocytoma, Multiple renal cysts, Renal cell carcinoma, Hepatic hemangioma, Pancreatic cyst... |
OMIM:193300 |
| Wolman Disease |
|
Vomiting, Failure to thrive, Acute hepatic failure, Splenomegaly, Abdominal distention, Hepatomegaly |
OMIM:620151 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
ORPHA:79303 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con... |
OMIM:616278 |
| Gastroschisis |
|
Abnormal fetal gastrointestinal system morphology, Oligohydramnios, Polyhydramnios, Abnormality o... |
ORPHA:2368 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Nephropathy, Elevated circulating cre... |
OMIM:617056 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal EKG, Fetal distress, Reduced left ventricular ejec... |
ORPHA:45452 |
| Thymic Neuroendocrine Tumor |
|
Osteopenia, Calcium nephrolithiasis, Pituitary adenoma, Increased circulating cortisol level, Pit... |
ORPHA:97289 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Ascites, Splenomegaly, Death in childhood, Hydrocephalus, Hepatomegaly, Nephrotic syn... |
OMIM:269920 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Growth delay, Stage 5 chronic kidney ... |
OMIM:256100 |
| Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... |
OMIM:613642 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... |
ORPHA:100085 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
| Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Eczematoid dermatitis, Decreased liver function, Abnormal circulating porphyrin c... |
ORPHA:79278 |
| Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Limitation of joint mobility, Slender long bone, Sacrococcygeal pilonidal abnormality, Hypoplasti... |
ORPHA:2840 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| Isolated Biliary Atresia |
|
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... |
ORPHA:30391 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Nephrocalcinosis |
OMIM:616833 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... |
OMIM:619468 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Toe syndactyly, Abnormal renal collecting system morphology, Hyperechogenic kidneys, ... |
OMIM:616809 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Hydranencephaly, Ureteral agenesis, Oligohydramnios, Neonatal death, Renal cyst... |
OMIM:236500 |
| Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... |
OMIM:613027 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Splenomegaly, Hepatomegaly, Chronic diarrhea, Enlarged kidney |
OMIM:615285 |
| Ring Chromosome 8 Syndrome |
|
Polyhydramnios, Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro... |
OMIM:231100 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
| Cholesteryl Ester Storage Disease |
|
Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hy... |
ORPHA:75234 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Congenital hip dislocation, Kyphosis, Overlapping fingers, Multiple joint contractures, Decreased... |
OMIM:618291 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... |
OMIM:618549 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... |
OMIM:241600 |
| Muscle Filaminopathy |
|
Proximal muscle weakness in lower limbs, Muscle fiber splitting, Cardiomyopathy, Extremely elevat... |
ORPHA:171445 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection |
OMIM:617349 |
| Trehalase Deficiency |
|
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain |
ORPHA:103909 |
| Refractory Celiac Disease |
|
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... |
ORPHA:398063 |
| Lymphatic Malformation 12 |
|
Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Neonatal death, Nonimmu... |
OMIM:620014 |
| Nephronophthisis 4 |
|
Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tub... |
OMIM:606966 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Brachydactyly, Abnormal cardiac septum morpho... |
ORPHA:1937 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E... |
OMIM:174000 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612924 |
| Gilbert Syndrome |
|
Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration, Unconjugated ... |
OMIM:143500 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... |
ORPHA:449432 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:600348 |
| Spondylosis, Cervical |
|
Spondylolysis, Spondylolisthesis, Cervical spondylosis, Osteoarthritis, Spina bifida occulta |
OMIM:184300 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, 3-Methylglutaconic aciduria, Pulmonary hypoplasia |
OMIM:615228 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Pituitary adenoma, Renal angiomyolipoma, Carcinoid tumor, Parathyroid adenoma, Pancreatic endocri... |
OMIM:610755 |
| Medullary cystic kidney disease 2 |
|
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Hyperuricemia, Re... |
OMIM:603860 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Hyperostosis, Decreased renal tubular p... |
OMIM:211900 |
| Rhizomelic Chondrodysplasia Punctata |
|
Limitation of joint mobility, Abnormal epiphysis morphology, Epiphyseal stippling, Spina bifida o... |
ORPHA:177 |
| Axial Osteomalacia |
|
Renal cyst, Polycystic liver disease, Elevated circulating creatine kinase concentration |
OMIM:109130 |
| Glucose-Galactose Malabsorption |
|
Vomiting, Diarrhea, Failure to thrive, Malnutrition, Hyperactive bowel sounds, Renal insufficienc... |
ORPHA:35710 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615938 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... |
OMIM:612925 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
| Meckel Syndrome |
|
Accessory spleen, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Furrowed tongue... |
ORPHA:564 |
| Metaphyseal Anadysplasia |
|
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... |
ORPHA:1040 |
| Psoriasis 14, Pustular |
|
Furrowed tongue, Psoriasiform dermatitis, Pustule, Oligoarthritis, Geographic tongue, Elevated ci... |
OMIM:614204 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612926 |
| Coach Syndrome 2 |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Hyper... |
OMIM:619111 |
| Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... |
ORPHA:567544 |
| Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Renal agenesis, Respiratory distress, Stage 5 chronic kidney disease, Renal insuff... |
OMIM:615993 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Absence of stomach bubble on ... |
OMIM:314390 |
| Calciphylaxis |
|
Stage 5 chronic kidney disease, Ectopic ossification, Hyperphosphatemia, Secondary hyperparathyro... |
ORPHA:280062 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ... |
ORPHA:94088 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:267700 |
| Renal Hypodysplasia/Aplasia 4 |
|
Anhydramnios, Bilateral renal agenesis, Pulmonary hypoplasia |
OMIM:619887 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Osteopenia, Splenomegaly, Hepatomegaly, Recurrent fractures |
OMIM:618107 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypocalciuria, Osteomalacia, Multiple small medullary renal cysts, Renal insuffi... |
OMIM:600740 |
| Microsporidiosis |
|
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... |
ORPHA:2552 |
| Tuberous Sclerosis Complex |
|
Chronic kidney disease, Cardiac rhabdomyoma, Renal angiomyolipoma, Abnormality of the kidney, Ang... |
ORPHA:805 |
| Small Bowel Atresia |
|
Vomiting, Failure to thrive, Abnormal vascular morphology, Intrauterine growth retardation, Abdom... |
ORPHA:1201 |
| Renal Hypodysplasia/Aplasia 2 |
|
Anhydramnios, Bilateral renal agenesis, Pulmonary hypoplasia |
OMIM:615721 |
| Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
| Immunodeficiency 92 |
|
Pneumonia, Osteomyelitis, Esophagitis, Sclerosing cholangitis, Hepatomegaly, Cholangitis, Chronic... |
OMIM:619652 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Polyhydramnios, Neonatal death |
OMIM:612138 |
| Atelosteogenesis Type I |
|
Platyspondyly, Laryngotracheal stenosis, Pulmonary hypoplasia, Joint dislocation, Absent or minim... |
ORPHA:1190 |
| Congenital Pulmonary Lymphangiectasia |
|
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Splenomegaly, Pulmo... |
ORPHA:2414 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... |
OMIM:603554 |
| Achondrogenesis, Type Ii |
|
Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ... |
OMIM:200610 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Multinodular goiter |
ORPHA:2091 |
| Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Left ventricular hypertrophy, Dilate... |
OMIM:615248 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Pancreatic fibrosis,... |
OMIM:263520 |
| Radiculoneuropathy, Fatal Neonatal |
|
Polyhydramnios, Death in childhood |
OMIM:266250 |
| Renal Tubular Acidosis, Distal, 1 |
|
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H... |
OMIM:179800 |
| Holt-Oram Syndrome |
|
Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Abnormal metaca... |
ORPHA:392 |
| Congenital Sucrase-Isomaltase Deficiency |
|
Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Failure to thrive, Nausea, Constipa... |
ORPHA:35122 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Vomiting, Failure to thrive, Elevated circulating creatinine concentration, Hepa... |
OMIM:617872 |
| Bile Acid Conjugation Defect 1 |
|
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... |
OMIM:619232 |
| Nemaline Myopathy 10 |
|
Death in infancy, Neonatal death, Decreased fetal movement, Breech presentation, Polyhydramnios, ... |
OMIM:616165 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Pulmonary cyst, Umbilical hernia, Sacral dimple, Nephroblastoma, Protuberant abdomen, Kyphosis, W... |
OMIM:618272 |
| Holoprosencephaly 5 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... |
OMIM:609637 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Elbow flexion contracture, Renal cortical cysts, Increased nuchal transl... |
ORPHA:1692 |
| Lethal Recessive Chondrodysplasia |
|
Flared elbow metaphyses, Generalized osteosclerosis, Short long bone, Polyhydramnios, Edema |
ORPHA:1423 |
| Czeizel-Losonci Syndrome |
|
Abnormality of the urinary system, Thickened nuchal skin fold, Ureteral agenesis, Myelomeningocel... |
ORPHA:2437 |
| Renal Cysts And Diabetes Syndrome |
|
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Elevat... |
OMIM:137920 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, Gastrointestinal dysmo... |
OMIM:613662 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Fetal akinesia sequence, Bra... |
OMIM:618815 |
| Meckel Syndrome, Type 5 |
|
Renal cyst, Bile duct proliferation, Cleft palate |
OMIM:611561 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Nephrotic syndrome, Reduced circulating alpha-1-antitrypsin concentration, Hepat... |
ORPHA:60 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... |
ORPHA:231160 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Cholestasis, Hepatosplenomeg... |
OMIM:266920 |
| Birt-Hogg-Dube Syndrome 1 |
|
Cutaneous leiomyoma, Colon cancer, Cutaneous leiomyosarcoma, Renal cyst, Multiple lipomas, Large ... |
OMIM:135150 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Quadriceps muscle weakness, Elbow flexion contracture, Abnormality of the... |
ORPHA:206546 |
| Lethal Congenital Contracture Syndrome 11 |
|
Elbow flexion contracture, Decreased fetal movement, Distal arthrogryposis, Camptodactyly, Flexio... |
OMIM:617194 |
| Hydrops Fetalis |
|
Generalized edema, Abnormality of the urinary system, Increased placental thickness, Lymphedema, ... |
ORPHA:1041 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ventriculomegaly, Renal agenesis, Lateral ventricle dilatation, Horseshoe kidney, Hydrocephalus, ... |
OMIM:602200 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... |
OMIM:603471 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,... |
OMIM:274000 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Right... |
OMIM:253700 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Micropenis, Lateral ventricle dilatation |
OMIM:300982 |
| Pierre Robin Syndrome |
|
Cor pulmonale, Micrognathia |
OMIM:261800 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Webbed neck, Osteopenia, Fractured radius, Ascites, Pleural effusion, Polyhydramni... |
OMIM:616897 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Nonimmune hydrops fetalis, Lacticaciduria, Elevated urinary 4-hydroxybutyric acid... |
OMIM:619003 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic fail... |
OMIM:278000 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in childhood, Death in infancy, Neonatal death, Decreased fetal movement, Polyhydramnios, H... |
OMIM:619334 |
| Nemaline Myopathy 9 |
|
Fetal akinesia sequence, Breech presentation, Polyhydramnios |
OMIM:615731 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Protein-losing enteropathy, Proximal tubulopa... |
OMIM:602579 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Gastros... |
ORPHA:228426 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Hepa... |
OMIM:616263 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting, Hyperparathyroidism, Rickets, Elevated circulating parathyroid hormone l... |
OMIM:612089 |
| Joubert Syndrome 35 |
|
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections |
OMIM:618161 |
| Classic Multiminicore Myopathy |
|
Muscular dystrophy, Microretrognathia, Muscle fiber atrophy, Multiple joint contractures, Mitral ... |
ORPHA:324604 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatomegaly, ... |
OMIM:246900 |
| Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Cryptorchidism, Death in infancy, Death in childhood, Decreased fetal movement, Short neck, Polyh... |
OMIM:618766 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... |
ORPHA:2394 |
| Robin Sequence-Oligodactyly Syndrome |
|
Finger aplasia, Abnormal form of the vertebral bodies, Abnormal morphology of ulna, Abnormal meta... |
ORPHA:3104 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... |
ORPHA:174 |
| Catel-Manzke Syndrome |
|
Abnormal epiphysis morphology, Camptodactyly of finger, Radial deviation of the 2nd finger, Metat... |
ORPHA:1388 |
| Diffuse Neonatal Hemangiomatosis |
|
Ascites, Renal insufficiency, Polyhydramnios, Renal hypoplasia/aplasia, Hepatomegaly, Hydrops fet... |
ORPHA:2123 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ... |
OMIM:619040 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Nodular regenerative hyperplasia of liver, Hepatic fibrosis, Biliary cirrhosis, Hepatic failure, ... |
OMIM:620454 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Ascites, Abnormality of the ureter, Oligohydramnios, Splenomegaly, Renal hypoplasia/aplasia, Apla... |
ORPHA:1046 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Gastroesophageal reflux, Growth delay, Hyperlipidemia, Renal insufficiency, Cong... |
OMIM:256300 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615937 |
| Lipoprotein Glomerulopathy |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Short neck, Abnormal metacarpal morphology, Mitral valve prolapse, Abnormal morphology of ulna |
ORPHA:2233 |
| Achondrogenesis Type 1A |
|
Abnormal enchondral ossification, Umbilical hernia, Polyhydramnios, Short neck, Thickened nuchal ... |
ORPHA:93299 |
| Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hepatic failure, Hyperammonemia, Splenomegaly, Pyloric stenosis |
ORPHA:664 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... |
OMIM:607765 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Arthrogryposis multiplex congenita, Knee flexion contractur... |
OMIM:616531 |
| Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:613694 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries |
ORPHA:90301 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Fountain Syndrome |
|
Facial edema, Craniofacial hyperostosis, Short distal phalanx of finger, Coarse metaphyseal trabe... |
ORPHA:3219 |
| Achondrogenesis |
|
Abnormal enchondral ossification, Umbilical hernia, Short neck, Thickened nuchal skin fold, Polyh... |
ORPHA:932 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Hepatic fibrosis, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase l... |
OMIM:617093 |
| Schneckenbecken Dysplasia |
|
Platyspondyly, Hypoplastic scapulae, Stillbirth, Umbilical hernia, Polyhydramnios, Nonimmune hydr... |
OMIM:269250 |
| Primary Effusion Lymphoma |
|
Pleural effusion, Abnormal peritoneum morphology, Abdominal distention, Dyspnea, Abdominal pain, ... |
ORPHA:48686 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria, Nausea and vomiting, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Feeding di... |
ORPHA:79238 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Polyhydramnios, Lateral ventricle dilatation |
OMIM:618266 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... |
OMIM:601894 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis |
OMIM:615503 |
| Pontocerebellar Hypoplasia, Type 1E |
|
Polyhydramnios, Death in infancy |
OMIM:619303 |
| Nemaline Myopathy 8 |
|
Polyhydramnios, Decreased fetal movement, Fetal akinesia sequence, Death in infancy |
OMIM:615348 |
| Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
| Dubin-Johnson Syndrome |
|
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality |
OMIM:237500 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
| Nephronophthisis 18 |
|
Thickened glomerular basement membrane, Portal fibrosis, Nephronophthisis, Cholestasis, Stage 5 c... |
OMIM:615862 |
| Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... |
OMIM:201000 |
| Arthrogryposis, Distal, Type 2A |
|
Joint contracture of the hand, Cryptorchidism, Hip contracture, Short neck, Flexion contracture o... |
OMIM:193700 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased muscle mass, Decreased glomerular filtration rate, ... |
OMIM:232200 |
| Ceroid storage disease |
|
Abnormality of the spleen, Hepatic failure |
OMIM:214200 |
| Meckel Syndrome, Type 2 |
|
Intestinal malrotation, Renal cyst, Bile duct proliferation, Cleft palate |
OMIM:603194 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren... |
ORPHA:54370 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... |
ORPHA:65682 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Eczematoid dermatitis, Hepatic failure, Hypertriglyceridemia |
OMIM:177000 |
| Preeclampsia |
|
Chronic kidney disease, Abnormality of the hepatic vasculature, Elevated circulating hepatic tran... |
ORPHA:275555 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Atrial septal defec... |
ORPHA:52056 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Webbed neck, Limitation of joint mobility, Slender long bone, Abnormal form of the vertebral bodi... |
ORPHA:1486 |
| Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
| Achondrogenesis Type 1B |
|
Abnormal enchondral ossification, Umbilical hernia, Short foot, Short neck, Thickened nuchal skin... |
ORPHA:93298 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Cutaneous finger syndactyly, Type... |
OMIM:113000 |
| Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona... |
ORPHA:79234 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Genu valgum, Short neck, Spina bifida occulta, Hypoplasia of penis, Reduced bone mineral density,... |
ORPHA:2983 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... |
OMIM:137950 |
| Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
| Distal Duplication 14Q |
|
Short stature, Abnormality of the upper urinary tract, Patent ductus arteriosus, Abnormal aortic ... |
ORPHA:1705 |
| Hypophosphatasia, Infantile |
|
Platyspondyly, Unossified vertebral bodies, Nephrocalcinosis, Vomiting, Phosphoethanolaminuria, A... |
OMIM:241500 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Oligohydramnios, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:620235 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulatin... |
OMIM:124000 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:613944 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus |
OMIM:604213 |
| Joubert Syndrome 6 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease, Bile duct proliferation, Nephronophthisis |
OMIM:610688 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Acrodysplasia Scoliosis |
|
Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect |
ORPHA:2956 |
| Free Sialic Acid Storage Disease |
|
Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrome, Recurrent respiratory infec... |
ORPHA:834 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... |
ORPHA:3344 |
| Dysspondyloenchondromatosis |
|
Platyspondyly, Anisospondyly, Scoliosis, Genu valgum, Metaphyseal enchondromatosis, Vertebral seg... |
ORPHA:85198 |
| Congenital Disorder Of Glycosylation, Type If |
|
Feeding difficulties, Renal cortical cysts, Death in infancy, Flexion contracture, Wide anterior ... |
OMIM:609180 |
| Symmetrical Thalamic Calcifications |
|
Polyhydramnios, Arrhythmia |
ORPHA:1314 |
| Nephronophthisis 9 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts |
OMIM:613824 |
| Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Proteinuria, Ab... |
OMIM:123550 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Scoliosis, Long penis, A... |
ORPHA:1988 |
| Glucose/Galactose Malabsorption |
|
Glycosuria, Failure to thrive, Hyperactive bowel sounds, Malabsorption, Abdominal distention, Chr... |
OMIM:606824 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Decreased plasma free carnitine, Left ventricular hypertrophy, Hyperalan... |
OMIM:619048 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly, Death in infancy, Nonimmune hydrops fetalis, Joint contracture, Hepatomegaly, Flexi... |
OMIM:608540 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... |
OMIM:620481 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Pancreatiti... |
OMIM:145980 |
| Von Hippel-Lindau Disease |
|
Macular edema, Cardiomyopathy, Abnormal left ventricular function, Palpitations, Pallor, Elevated... |
ORPHA:892 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:603553 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly |
OMIM:616719 |
| Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp... |
OMIM:215140 |
| Focal Segmental Glomerulosclerosis 6 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... |
OMIM:614131 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Oligohydramnios, Polyhydramnios, Splenomegaly, Hepatomegaly, Hydrops fe... |
ORPHA:163596 |
| Three M Syndrome 1 |
|
Short 5th finger, Joint dislocation, Slender long bone, Decreased testicular size, Clinodactyly o... |
OMIM:273750 |
| Idiopathic Achalasia |
|
Gastroesophageal reflux, Malnutrition, Decreased circulating prealbumin concentration, Weight los... |
ORPHA:930 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:235555 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Torticollis, Abnormal 3rd fing... |
OMIM:249670 |
| Mpi-Cdg |
|
Hypoalbuminemia, Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Vomit... |
ORPHA:79319 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... |
ORPHA:1330 |
| Nevus Comedonicus Syndrome |
|
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bif... |
ORPHA:64754 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Atelectasis, Bilateral cryptorchidism, Respiratory distress, Glandular hypospadias, Polyhydramnio... |
OMIM:300219 |
| Neural Tube Defects, Susceptibility To |
|
Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Urinary... |
OMIM:182940 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ... |
ORPHA:42 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Elevated pulmonary artery pressure, Edema |
OMIM:178400 |
| Recombinant Chromosome 8 Syndrome |
|
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Double outlet righ... |
OMIM:179613 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... |
ORPHA:353 |
| Orofaciodigital Syndrome I |
|
Hepatic fibrosis, Hamartoma of tongue, Ankyloglossia, Hepatic cysts, Ovarian cyst, Proteinuria, B... |
OMIM:311200 |
| Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
| Acute Peripheral Arterial Occlusion |
|
Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio... |
ORPHA:90064 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Gastroesophageal reflux, Occipital encephalocele, Recurrent respiratory infections, Hyperechogeni... |
ORPHA:397715 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal hip bone morpho... |
ORPHA:1837 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Decreased fetal movement, Joint hypermobility, Feeding difficulties in infancy, High palate, Poly... |
OMIM:255320 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... |
ORPHA:183675 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Genu recurvatum, Slender long bone, Joint hypermobility, Cubitus valgus, Spina bifida occulta, Re... |
ORPHA:1185 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia |
OMIM:226300 |
| Tracheal Agenesis |
|
Polyhydramnios |
ORPHA:3346 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, Protein avoidance, ... |
OMIM:238970 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cryptorchidism, Protruding tongue, Death in childhood, Breech presentation, Hepatomegaly, Intrahe... |
OMIM:214100 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... |
ORPHA:79233 |
| Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis, Abnormality of the liver |
ORPHA:140976 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... |
ORPHA:189427 |
| Bamforth-Lazarus Syndrome |
|
Polyhydramnios |
OMIM:241850 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... |
ORPHA:1350 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Red-brown urine, Stage 5 chron... |
ORPHA:157 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lambdoidal craniosynostosis, Bicoronal synostosis, Delayed closure of the anterior fontanelle, Sp... |
OMIM:618736 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Atrioventricular dissociat... |
OMIM:142900 |
| Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lower thoracic vertebrae, Hepatitis, Lymphedema, Ascites, Umbilical hernia, J... |
ORPHA:584 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
| Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:615573 |
| Aids Wasting Syndrome |
|
Malnutrition, Malabsorption, Cachexia, Weight loss, Anorexia |
ORPHA:90081 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Diarrhea, Chronic mucocutaneous candidiasis, Protracted diarrhea, Recurrent infection of the gast... |
ORPHA:572 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Abnormality of the ankle, Premature birth, Contractures of the large joints, Bilateral cryptorchi... |
ORPHA:96179 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating acylcarnitine concentration, E... |
ORPHA:26791 |
| Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
| Pineocytoma |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251912 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Dicarboxylic a... |
ORPHA:228308 |
| Giant Cell Arteritis |
|
Vasculitis, Hepatic failure, Aortic dissection, Double outlet right ventricle with subpulmonary v... |
ORPHA:397 |
| Wolman Disease |
|
Hepatic failure, Malnutrition, Nausea and vomiting, Splenomegaly, Cachexia, Abdominal distention,... |
ORPHA:75233 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Renal dysplasia, Increased total bilirubin, Elbow flexion contracture, El... |
OMIM:608836 |
| Multiple Endocrine Neoplasia Type 4 |
|
Pituitary prolactin cell adenoma, Increased urinary cortisol level, Pituitary null cell adenoma, ... |
ORPHA:276152 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hepatic steatosis, Renal steatosis, E... |
OMIM:261680 |
| Leri-Weill Dyschondrosteosis |
|
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... |
OMIM:127300 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Ankle flexion contracture, Arthrogryposis multiplex congenita, Elbow flexion contracture, Decreas... |
OMIM:617468 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Generalized aminoaciduria, Rickets, Elevated circulating parathy... |
OMIM:264700 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Telangiectasia, Cirrhosis, Abnormality of the kidney, Hydrops fetalis, Edema |
ORPHA:101028 |
| Craniosynostosis 6 |
|
Right unilambdoid synostosis, Delayed cranial suture closure, Bicoronal synostosis, Spina bifida ... |
OMIM:616602 |
| Mpdu1-Cdg |
|
Nasogastric tube feeding, Decreased response to growth hormone stimulation test, Renal cortical c... |
ORPHA:79323 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Diarrhea, Periodontitis, Hepatic steatosis, Polycystic ovari... |
ORPHA:79259 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... |
OMIM:618329 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... |
OMIM:618528 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Proteinuria, Delayed puberty, Increased blood urea nitrogen, Macroscopic hem... |
ORPHA:251004 |
| Babesiosis |
|
Hepatic failure, Renal insufficiency, Splenomegaly, Nausea and vomiting, Anorexia, Hepatomegaly, ... |
ORPHA:108 |
| Pendred Syndrome |
|
Nephropathy, Hyperparathyroidism, Goiter, Thyroid carcinoma, Hypothyroidism |
ORPHA:705 |
| Adiposis Dolorosa |
|
Obesity, Constipation, Abdominal distention |
OMIM:103200 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Generalized aminoaciduria, Rickets, Elevated circulating parathy... |
ORPHA:289157 |
| Congenital Myopathy 14 |
|
Nasogastric tube feeding, Elbow flexion contracture, Apnea, Decreased fetal movement, Death in in... |
OMIM:618414 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Supernumerary nipple, Elevated circulating creatinine concentration, Stage 5 ch... |
OMIM:614376 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis, Spina bifida occulta, Cryptorchidism, Chronic constipation |
OMIM:618060 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... |
OMIM:220210 |
| Dengue Fever |
|
Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Nephrotic syndrome, Lymphedema |
ORPHA:69061 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Joint contracture of the hand, Cryptorchidism, Pulmonary lymphangiectasia, Periorbital edema, Ect... |
OMIM:235510 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the ureter, Cryptorchidism, Aplasia/Hypoplasia of th... |
ORPHA:2970 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| White Forelock With Malformations |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect, Prominent veins on ... |
OMIM:277740 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Diarrhea, Hepatitis, Splenomegaly, Sclerosing cholangitis, Enteroviral encephalitis, Cirrhosis, C... |
OMIM:308230 |
| Perlman Syndrome |
|
Visceromegaly, Renal hamartoma, Nephroblastomatosis, Nephrogenic rest, Nephroblastoma |
OMIM:267000 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... |
OMIM:613854 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Pallor, Splenomegaly |
ORPHA:46532 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... |
OMIM:214950 |
| Xanthinuria, Type Ii |
|
Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le... |
OMIM:603592 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Ungual fibroma, Pulmonary lymphangiomyomatosis, Hematuria, Renal angiomyo... |
ORPHA:538 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
| Conotruncal Heart Malformations |
|
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... |
OMIM:217095 |
| Acrofacial Dysostosis, Catania Type |
|
Webbed neck, Cryptorchidism, Brachydactyly, Spina bifida occulta, Hypospadias, Short palm |
OMIM:101805 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis, Failure to thrive |
OMIM:263000 |
| Lethal Kniest-Like Dysplasia |
|
Platyspondyly, Hypoplastic ilia, Flared metaphysis, Broad long bones, Abnormal cartilage morpholo... |
ORPHA:2347 |
| Senior-Loken Syndrome 1 |
|
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... |
OMIM:266900 |
| Fanconi-Bickel Syndrome |
|
Nephropathy, Generalized aminoaciduria, Hepatic failure, Nephrocalcinosis, Abdominal distention, ... |
ORPHA:2088 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Limitation of joint mobility, Carpal osteolysis, Slender long bone, Camptodactyly of... |
ORPHA:2774 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Muscular dystrophy, Cryptorchidism, Elevated circulating creatine kinase concentration, Left vent... |
OMIM:613156 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Ascending aortic dissection, Descending aortic dissection, Bronchiectasis, Osteoarthritis |
OMIM:620080 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Polyhydramnios, Decreased fetal movement, Congestive heart failure |
OMIM:616794 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... |
ORPHA:228305 |
| Meckel Syndrome, Type 4 |
|
Renal cyst, Bile duct proliferation, Cleft palate |
OMIM:611134 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis, Hypoplastic scapulae, Short distal phalanx of finger, Hypospadias, Renal hypopl... |
OMIM:614091 |
| Lysinuric Protein Intolerance |
|
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Glomerulonephritis,... |
ORPHA:470 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Overlapping toe, Reduced bone mineral density, Cryptorchidism, Abnormality of the kidney, Polyhyd... |
ORPHA:466926 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Polyhydramnios |
OMIM:600559 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Abdominal distention, V... |
OMIM:613070 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Scimitar Syndrome |
|
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... |
ORPHA:185 |
| Lipoyltransferase 1 Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... |
OMIM:616299 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Hematochezia, Diarrhea, Abnormal circulating protein concentration, Weight loss,... |
ORPHA:103910 |
| Thyrocerebrorenal Syndrome |
|
Nephritis, Renal insufficiency, Euthyroid goiter |
ORPHA:3327 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... |
OMIM:615160 |
| Alg1-Cdg |
|
Hypoalbuminemia, Protein-losing enteropathy, Decreased liver function, Renal insufficiency, Abnor... |
ORPHA:79327 |
| Helix Syndrome |
|
Hypermagnesemia, Hyperparathyroidism, Hypocalciuria, Xerostomia, Renal insufficiency, Nephrolithi... |
OMIM:617671 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Tongue nod... |
ORPHA:2750 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Camptodactyly of finger, Abnorma... |
ORPHA:2633 |
| Osteogenesis Imperfecta, Type Ii |
|
Platyspondyly, Abnormal pelvic girdle bone morphology, Thin skin, Premature birth, Broad long bon... |
OMIM:166210 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Recurrent infection of ... |
OMIM:613489 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia, Hyponatremia, Prot... |
OMIM:613845 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint... |
ORPHA:1427 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Splenomegaly, Death in infancy, Neonatal death, Fetal akinesia sequenc... |
ORPHA:85212 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal form of the vertebral bodies, Camptodactyly of finger, Umbilical hernia, Abnormality of ... |
ORPHA:2311 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Absent or minimally ossified vertebral bodies, Myelomeningocele, Short neck... |
ORPHA:66637 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... |
OMIM:601346 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... |
ORPHA:329918 |
| Vesicoureteral Reflux 3 |
|
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... |
OMIM:613674 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio... |
ORPHA:91387 |
| C3 Glomerulopathy 3 |
|
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... |
OMIM:614809 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Aspiration pneumonia, Respiratory distress, Feeding difficulties, Gastrostomy tube ... |
ORPHA:141152 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Intrauterine growth retardation, Redundant skin, Congestive heart failure |
OMIM:301021 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hypoplastic ilia, Anisospondyly, Limitation of joint mobility, Increased placental thickness, Bro... |
ORPHA:1865 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:613251 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Elevated gamma-glutamyltransferase level, Gastroesophageal reflux, Decreased liver function, Elev... |
OMIM:616974 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Decreased liver function, Renal insufficiency, Renal tubular acidosis, Hepatic ... |
OMIM:614922 |
| Mosaic Trisomy 9 |
|
Limitation of joint mobility, Elbow dislocation, Cryptorchidism, Short neck, High palate, Hip dis... |
ORPHA:99776 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... |
OMIM:615297 |
| Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
| Arima Syndrome |
|
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi... |
OMIM:243910 |
| Heme Oxygenase 1 Deficiency |
|
Nephritis, Increased circulating lactate dehydrogenase concentration, Increased circulating ferri... |
OMIM:614034 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cholestasis, Hepatosplenomegaly, Cryptorchidism, Feeding difficulties in infancy, Hepatomegaly, J... |
OMIM:614866 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce... |
OMIM:243700 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Elevated circulating parathyroid hormone level, Splenomegaly, Hyperphosphaturia, H... |
OMIM:239200 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Slender long bone, Vesicoureteral reflux, Decreased calvarial ossification, Hydronephrosis, Nonim... |
OMIM:618265 |
| Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Osteopenia, Unilateral renal agenesis, Fractured rib, Recurrent fractures, O... |
OMIM:618188 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage... |
OMIM:276700 |
| Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Ascites, Pericardial effusion, Fetal skin edema, Splenomegaly, Decreased fetal movement... |
OMIM:608776 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Increased erythrocyte pr... |
OMIM:300752 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the ureter, Abnormality of the spleen, Renal hypoplasia/aplasia, Abnormal intestin... |
ORPHA:1834 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Fibrochondrogenesis 1 |
|
Joint contracture of the hand, Small hand, Hypoplastic scapulae, Broad long bones, Short neck, Br... |
OMIM:228520 |
| Bardet-Biedl Syndrome 18 |
|
Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:615995 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Craniofacial hyperostosis, Hyperparathyroidism, Pituitary adenoma, Increased ... |
OMIM:174800 |
| Cholestasis, Progressive Familial Intrahepatic, 4 |
|
Intrahepatic cholestasis, Hepatic failure, Portal hypertension, Cirrhosis, Hepatocellular carcinoma |
OMIM:615878 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Renal tubular acidosis,... |
ORPHA:156 |
| Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Hypopl... |
OMIM:200600 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Short thumb, Ventricular septal defect, Brachydactyly, Short middle phalanx of fi... |
ORPHA:391646 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Malabsorption, Nausea, Abdominal distention, Dyspepsia, Abdominal pain, Chronic diarrhea |
ORPHA:103907 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Renal juxtag... |
OMIM:601678 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Hepatic failure, Cirrhosis, Portal hypertension |
OMIM:210050 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... |
OMIM:300539 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection |
OMIM:616166 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Anal atresia, Erythroderma, Hepatic cysts |
OMIM:617425 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... |
OMIM:618913 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve... |
OMIM:250460 |
| Apparent Mineralocorticoid Excess |
|
Nephrocalcinosis, Renal insufficiency, Abnormality of circulating cortisol level, Decreased circu... |
ORPHA:320 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Abno... |
ORPHA:1452 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Gastroesophageal reflux, Chronic constipation, Coarctation of aorta, Cyst of the ductus choledoch... |
OMIM:619480 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Poor suck, Abnormal esophagus physiology, N... |
ORPHA:2198 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypospadias, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio... |
ORPHA:93111 |
| Moyamoya Disease 5 |
|
Moyamoya phenomenon, Ascending tubular aorta aneurysm |
OMIM:614042 |
| Secondary Short Bowel Syndrome |
|
Diarrhea, Vomiting, Failure to thrive, Atherosclerosis, Cholestasis, Malnutrition, Malabsorption,... |
ORPHA:95427 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thoracolumbar kyphosis, Hypoplastic ilia, Metaphyseal cupping, Radial bowing, Stillbirth, Disc-li... |
OMIM:151210 |
| Acrocraniofacial Dysostosis |
|
Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn... |
ORPHA:949 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Polyhydramnios, Holoprosencephaly, Dandy-Walker... |
OMIM:617967 |
| Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Champagne cork sign, Flared me... |
OMIM:187600 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid... |
OMIM:615008 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Aortic aneurysm, Cryptorchidism, Patent ductus arteriosus |
ORPHA:261102 |
| Mantle Cell Lymphoma |
|
Weight loss, Splenomegaly, Anorexia |
ORPHA:52416 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... |
OMIM:615605 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Elevated circulating hepatic transaminase concentration, Multiple renal cysts, Decrea... |
OMIM:614883 |
| Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
| Cranioectodermal Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, High, narrow palate,... |
OMIM:218330 |
| Bardet-Biedl Syndrome 4 |
|
Hypogonadism, Obesity, Cryptorchidism, Renal cyst, Abnormality of the kidney |
OMIM:615982 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Hydrocephalus |
OMIM:618709 |
| Dubin-Johnson Syndrome |
|
Abnormal urinary color, Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tra... |
ORPHA:234 |
| Perlman Syndrome |
|
High, narrow palate, Abnormal pancreas morphology, Cryptorchidism, Nephroblastoma, Hepatomegaly, ... |
ORPHA:2849 |
| Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Increased circulati... |
OMIM:619644 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Oligohydr... |
ORPHA:1851 |
| Pallister-Hall-Like Syndrome |
|
Hip dislocation, Microglossia, Occipital encephalocele, Renal dysplasia, Death in infancy, Hydroc... |
OMIM:241800 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Megacystis, Recurrent urinary tract infections, Oligohydramnios, Nephrolithiasis, Abdominal diste... |
OMIM:619365 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... |
ORPHA:131 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Malabsorpti... |
ORPHA:79301 |
| Developmental And Epileptic Encephalopathy 70 |
|
Polyhydramnios, Flexion contracture, Scoliosis, Cryptorchidism |
OMIM:618298 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom... |
OMIM:615630 |
| Thanatophoric Dysplasia |
|
Platyspondyly, Joint stiffness, Increased nuchal translucency, Joint hypermobility, Abnormal sacr... |
ORPHA:2655 |
| Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormality of the parathyroid gland, Abnormal circulating calcium concentration, Secondary hyper... |
ORPHA:140286 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Platyspondylic Dysplasia, Torrance Type |
|
Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Hypopla... |
ORPHA:85166 |
| Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Widening of cervical spinal canal, Paucity of anterior horn motor neurons, Arthro... |
OMIM:253310 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Micrognathia, Reduced renal corticomedullary differ... |
OMIM:208085 |
| Feingold Syndrome 2 |
|
Short thumb, 3-4 toe syndactyly, Short middle phalanx of the 2nd finger, Ventricular septal defec... |
OMIM:614326 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrioventricular block, Carpal osteolysis, Abnormal form of the vertebral bodies, Abnormal hand m... |
ORPHA:371428 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in childhood, Death in infancy, Neonatal death, Cardiomegaly, Feeding difficulties, Pulmona... |
OMIM:614096 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Gastroesophageal reflux, Malnutrition, Polyhydramnios, Osteoporosis, Recurrent aspiration pneumon... |
OMIM:619971 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Tetralogy of Fallot, Overlapping toe, Overlapping fingers, Patent foramen... |
OMIM:618316 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Meckel Syndrome 14 |
|
Hepatic fibrosis, Occipital encephalocele, Oligohydramnios, Increased nuchal translucency, Decrea... |
OMIM:619879 |
| Lethal Congenital Contracture Syndrome 7 |
|
Fetal akinesia sequence, Polyhydramnios, Decreased fetal movement |
OMIM:616286 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Polyhydramnios, Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventric... |
OMIM:617296 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Neonatal death, Hydronephrosis, Polyhydramnios, Fetal megacystis |
OMIM:619362 |
| White Forelock With Malformations |
|
Spina bifida occulta, Clinodactyly of the 5th finger, Finger syndactyly, Joint hypermobility |
ORPHA:2475 |
| Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
| Cranioectodermal Dysplasia 2 |
|
Recurrent pneumonia, Portal fibrosis, Biliary cirrhosis, Elevated circulating hepatic transaminas... |
OMIM:613610 |
| Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures, Dec... |
OMIM:146200 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy, Diarrhea, Vomiting, Decreased liver function, Ascites, Cholestasis, O... |
OMIM:608104 |
| Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Limited elbow move... |
ORPHA:1826 |
| Gcgr-Related Hyperglucagonemia |
|
Abdominal pain, Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology |
ORPHA:438274 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Ventricular sep... |
OMIM:613404 |
| Neuraminidase Deficiency |
|
Facial edema, Urinary excretion of sialylated oligosaccharides, Ascites, Epiphyseal stippling, In... |
OMIM:256550 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating l... |
ORPHA:158057 |
| Brachyolmia Type 1, Hobaek Type |
|
Platyspondyly, Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Squared-off pl... |
OMIM:271530 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
| Achondrogenesis Type 2 |
|
Unossified sacrum, Absent vertebral body mineralization, Delayed pubic bone ossification, Delayed... |
ORPHA:93296 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Renal cortical cysts, Vesicoureteral reflux, Feeding difficulties in infancy, Polyhydramnios, Sco... |
OMIM:618548 |
| Mitchell-Riley Syndrome |
|
Diarrhea, Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, C... |
OMIM:615710 |
| Lymphatic Malformation 1 |
|
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Nonimmune hydrops fetal... |
OMIM:153100 |
| Dent Disease 1 |
|
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, ... |
OMIM:300009 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... |
OMIM:613280 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... |
OMIM:615779 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular... |
OMIM:145981 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Oligohydramnios, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:161950 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Spina bifida occulta, Thin skin, Joint hypermobility |
ORPHA:230839 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
High iliac wing, Coarse metaphyseal trabecularization, Scoliosis, Facial hyperostosis, Delayed cr... |
ORPHA:2780 |
| Sprengel Deformity |
|
Spina bifida occulta, Cervical segmentation defect, Scoliosis, Hemivertebrae |
OMIM:184400 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
| 17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Ureterocel... |
ORPHA:261265 |
| Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Vesicoureteral reflux, Cryptorchidism, Abnormality of the pulmonary artery, ... |
ORPHA:1166 |
| Nephrosialidosis |
|
Pericardial effusion, Nephropathy, Nephrotic syndrome, Renal insufficiency |
OMIM:256150 |
| Acrodysostosis |
|
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor... |
ORPHA:950 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Thyroid C cell hyperplasia, Hyperparathyroidism, Elevated urinary dopamine level, Increased circu... |
OMIM:171400 |
| Atelosteogenesis, Type Ii |
|
Platyspondyly, Cervical kyphosis, Lacunar halos around chondrocytes, Lumbar hyperlordosis, Death ... |
OMIM:256050 |
| Langer Mesomelic Dysplasia |
|
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Aplasia/Hypoplasia of the f... |
ORPHA:2632 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Vomiting, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hyper... |
OMIM:143880 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Hematuria, In... |
ORPHA:90308 |
| Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Hyperammonemia, Aminoaciduria, Episodic ammonia intoxication |
ORPHA:147 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Platyspondyly, Radial bowing, Vertebral wedging, Preaxial polydactyly, Hyperechogenic kidneys, Ul... |
OMIM:617866 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Short toe, Sandal gap, Short 5th metacarpal, Clinodactyly of the 5th finger, Spondylo... |
OMIM:617877 |
| Cap Polyposis |
|
Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdominal pain |
ORPHA:160148 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Pulmonary hypoplasia, Decreased fetal movement, Dysphagia, Multiple prenatal fractures, Polyhydra... |
OMIM:616867 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
| Trisomy 13 |
|
High, narrow palate, Abnormal lung lobation, Abnormality of the ureter, Cryptorchidism, Displacem... |
ORPHA:3378 |
| Bardet-Biedl Syndrome 14 |
|
Renal insufficiency |
OMIM:615991 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosi... |
OMIM:300554 |
| Cranioacrofacial Syndrome |
|
Abnormal hand morphology, Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndro... |
OMIM:600995 |
| Amyloidosis, Hereditary Systemic 2 |
|
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... |
OMIM:105200 |
| Peritoneal Cystic Mesothelioma |
|
Metrorrhagia, Peritonitis, Weight loss, Dyspareunia, Constipation, Abdominal distention, Abdomina... |
ORPHA:168816 |
| Dent Disease |
|
Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Hematuria, Tubulointerst... |
ORPHA:1652 |
| Combined Oxidative Phosphorylation Deficiency 1 |
|
Cholestasis, Hepatomegaly, Fulminant hepatic failure, Feeding difficulties |
OMIM:609060 |
| Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Renal hypoplasia, Finger syndactyly, Abnormal mesentery morphology, Aplasia of the proximal phala... |
ORPHA:2256 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... |
ORPHA:540 |
| Pontocerebellar Hypoplasia Type 4 |
|
Polyhydramnios |
ORPHA:166063 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Hyperuri... |
OMIM:162000 |
| Mass Syndrome |
|
Aortic aneurysm, Ascending aortic dissection |
OMIM:604308 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... |
ORPHA:2260 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Kyphoscoliosis, Vertebra... |
OMIM:277300 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Platyspondyly, Abnormal ilium morphology, Irregular iliac crest, Scoliosis, Short iliac bones, Ab... |
ORPHA:93316 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency, Hypocalcemia, Mitral valve prolapse, Hypothyroidism, Hypohidros... |
ORPHA:1563 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Bilateral renal atrophy, Carpal osteolysis, Metacarpal osteolysis, Metatarsal osteoly... |
OMIM:166300 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... |
OMIM:600785 |
| Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
| Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Occipital encephalocele, Cryptorchidism, Aplasia/Hypoplasia of the ... |
ORPHA:887 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Protein-losing enteropathy, Hepatic failure, Abdominal distention, Thickened nuchal skin fold, Ly... |
OMIM:235255 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Cryptorchi... |
OMIM:130650 |
| Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Joint contracture of the hand, Anal atresia, High palate, Gastroeso... |
OMIM:300373 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Clinodactyly of the 2nd finger, Genu valgum, Ventricular septal defect, Atrial septal defect, Fin... |
OMIM:618870 |
| Desmoplastic Small Round Cell Tumor |
|
Abdominal distention, Ileus, Nausea and vomiting, Cachexia, Weight loss, Testicular neoplasm, Abn... |
ORPHA:83469 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Enlarged metaphyses, Platyspondyly, Lower-limb metaphyseal irregularity, Irregular femoral epiphy... |
OMIM:618728 |
| Bamforth-Lazarus Syndrome |
|
Polyhydramnios |
ORPHA:1226 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... |
OMIM:613154 |
| Distal Deletion 10Q |
|
2-3 toe cutaneous syndactyly, Acute kidney injury, Enuresis, Functional abnormality of the bladde... |
ORPHA:96148 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:300280 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Muscular Hypertonia, Lethal |
|
Pneumonia, Umbilical hernia, Respiratory distress, Decreased fetal movement, Death in infancy |
OMIM:254120 |
| Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Prox... |
OMIM:253300 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Parathyroid hypoplasia, Abnormal heart morphology, Renal insufficiency... |
ORPHA:2237 |
| Caudal Regression Syndrome |
|
Renal agenesis, Aplasia/Hypoplasia of the sacrum, Abnormality of the ureter, Joint stiffness, Ren... |
ORPHA:3027 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Alagille Syndrome 2 |
|
Cholestatic liver disease, Renal hypoplasia, Cholestasis, Renal insufficiency, Renal tubular acid... |
OMIM:610205 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... |
ORPHA:480536 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Limitation of joint mobility, Arthralgia of the hip, Joint stiff... |
ORPHA:93308 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:541423 |
| Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia, Hypospadias |
OMIM:245550 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Diarrhea, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Vomit... |
ORPHA:298 |
| X-Linked Centronuclear Myopathy |
|
Pneumonia, Low APGAR score, Poor suck, Respiratory distress, Decreased fetal movement, Feeding di... |
ORPHA:596 |
| Renal Tubular Acidosis, Proximal |
|
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis |
OMIM:179830 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hypertrophic cardiomyopathy, Adrenal insufficiency, Hyperglycinemia, Hyperamylasem... |
OMIM:619386 |
| Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Osteopenia, Cholelithiasis, Proximal tubulopathy, Hypogonadism, ... |
ORPHA:231222 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Ascending aortic dissection, Aortic root aneurysm, Arthritis, Ascending tubular aorta aneurysm |
OMIM:619825 |
| Mesomelic Limb Shortening And Bowing |
|
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Mesomelic arm shor... |
OMIM:249710 |
| Severe Congenital Nemaline Myopathy |
|
Arthrogryposis multiplex congenita, Premature birth, Polyhydramnios, Decreased fetal movement, Ed... |
ORPHA:171430 |
| Cardiomyopathy, Dilated, 1V |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:613697 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, C... |
OMIM:617049 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... |
OMIM:177170 |
| Familial Visceral Myopathy |
|
Hyperparathyroidism, Hydroureter, Megacystis, Camptodactyly of finger, Joint stiffness, Vesicoure... |
ORPHA:2604 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Nausea and vomiting, Hematuria, Weight loss, Retrograde ejaculation, Anorexia, Elevated circulati... |
ORPHA:49041 |
| Ketamine-Induced Biliary Dilatation |
|
Abdominal pain, Dysuria, Abnormal biliary tract morphology |
ORPHA:293807 |
| Relapsing Fever |
|
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Abnormality of the ... |
ORPHA:91547 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Flared metaphysis, Decreased f... |
OMIM:187601 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Scoliosis, Atrial septal defect, Sacral dimple, Ventricular septal defect |
OMIM:608227 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Osteopenia, Vomiting, Secretory diarrhea, Villous atrophy, Re... |
OMIM:619445 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Glutaric aciduria, Lateral ventricle dilatation, Cardiomyopathy, Elevated C... |
OMIM:600721 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Osteopenia, Generalized aminoaciduria, Proximal tubulopathy, Rickets, El... |
OMIM:613388 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Macroglossia, Respiratory dis... |
OMIM:617303 |
| Preeclampsia/Eclampsia 1 |
|
Hypertension, Edema |
OMIM:189800 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ... |
ORPHA:158061 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Lumba... |
OMIM:169550 |
| C Syndrome |
|
Fused sternal ossification centers, Dislocated radial head, Renal cortical cysts, Cryptorchidism,... |
OMIM:211750 |
| Desbuquois Syndrome |
|
Small hand, Elbow dislocation, Camptodactyly of finger, Ventricular septal defect, Radioulnar syn... |
ORPHA:1425 |
| Familial Isolated Hypoparathyroidism |
|
Nephropathy, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypocalcemi... |
ORPHA:2238 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Polyhydramnios, Recurrent respiratory infections, Nephrocalcinosis, Cryptorchidism |
OMIM:615633 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, E... |
OMIM:251880 |
| Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Lateral ventricle dilatation, Ascites, Pleural effusion, Bradycardia, Abnormal ... |
OMIM:617397 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Thickened glomerular basement membrane, Recurrent urinary tract infections, Hype... |
OMIM:619487 |
| Mulibrey Nanism |
|
Microglossia, Ascites, Nephroblastoma, Cardiomegaly, Thickened cortex of long bones, Hepatomegaly... |
OMIM:253250 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Elbow dislocation, Camptodactyly of finger, Abnormal lung lobation, Vertebral segmentation defect... |
ORPHA:2631 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polyda... |
ORPHA:261243 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Overlapping fingers, Radioulnar synostosis, Limited pronation/supination of f... |
OMIM:616738 |
| Parathyroid Carcinoma |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma |
OMIM:608266 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... |
OMIM:163800 |
| Familial Adenomatous Polyposis 4 |
|
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Astrocytom... |
OMIM:617100 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Clubbing of toes, Tetralogy of Fallot, Single transverse palmar crease, 2-3 toe syndactyly, Persi... |
ORPHA:3304 |
| Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Inflammatory abnormality of the skin, Eczematoid dermatitis, Elevated circulatin... |
ORPHA:3260 |
| Joubert Syndrome 5 |
|
Nephronophthisis, Occipital encephalocele, Episodic tachypnea, Stage 5 chronic kidney disease, Re... |
OMIM:610188 |
| Thyroid Hemiagenesis |
|
Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ... |
ORPHA:95719 |
| Congenital Myopathy 15 |
|
Osteopenia, Polyhydramnios, Decreased fetal movement, Joint hypermobility, Camptodactyly |
OMIM:620161 |
| Igg4-Related Ophthalmic Disease |
|
Keratitis, Colon cancer, Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituita... |
ORPHA:449563 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... |
OMIM:614954 |
| Atrial Fibrillation, Familial, 10 |
|
Left atrial enlargement, Left ventricular hypertrophy, Right ventricular dilatation |
OMIM:614022 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
| Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration,... |
ORPHA:1667 |
| Cog2-Cdg |
|
Small pituitary gland, Decreased circulating ceruloplasmin concentration, Decreased circulating c... |
ORPHA:435934 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Left ventricular non... |
OMIM:617228 |
| Diastrophic Dysplasia |
|
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg... |
OMIM:222600 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... |
ORPHA:860 |
| Aortic Arch Interruption |
|
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped... |
ORPHA:2299 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Recurre... |
OMIM:277440 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... |
OMIM:617156 |
| Combined Oxidative Phosphorylation Deficiency 46 |
|
Decreased liver function |
OMIM:618952 |
| Glycogen Storage Disease Vii |
|
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Increased total biliru... |
OMIM:232800 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Overlapping toe, Avascular necrosis of the capital femoral epiphysis, Ventricular septal defect, ... |
OMIM:614262 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Microcolon, Hydroureter, Megacystis, Umbilical hernia, Intestinal m... |
ORPHA:2241 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... |
ORPHA:2041 |
| Acrofacial Dysostosis, Catania Type |
|
Webbed neck, Small hand, Finger syndactyly, Clinodactyly of the 5th finger, Cryptorchidism, Brach... |
ORPHA:1786 |
| Mucopolysaccharidosis, Type Vii |
|
Hypoplasia of the odontoid process, Limitation of joint mobility, Urinary glycosaminoglycan excre... |
OMIM:253220 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Camptodactyly of finger, Increased nuchal translucency, Cryptorchid... |
ORPHA:261344 |
| Pulmonary Hypertension, Primary, 5 |
|
Right ventricular hypertrophy |
OMIM:265400 |
| Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Abnormal morphology of the radius, Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Peroxisome Biogenesis Disorder 7B |
|
Decreased liver function |
OMIM:614873 |
| Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain |
ORPHA:168829 |
| Joubert Syndrome 18 |
|
Horseshoe kidney, Renal cyst, Intrahepatic biliary atresia, Cleft palate, Lobulated tongue |
OMIM:614815 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... |
OMIM:306955 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Single transverse palmar crease, Ventricular septal defect, Clinodactyly of the 5th finger, Scoli... |
OMIM:619717 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
| Neuronal Intranuclear Inclusion Disease |
|
Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2289 |
| Lead Poisoning |
|
Chronic kidney disease, Infertility, Increased LDL cholesterol concentration, Oligozoospermia, Ab... |
ORPHA:330015 |
| Freeman-Sheldon Syndrome |
|
Ulnar deviation of finger, Camptodactyly of finger, Joint stiffness, Oligohydramnios, Cryptorchid... |
ORPHA:2053 |
| Nail-Patella-Like Renal Disease |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria |
ORPHA:2613 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Webbed neck, Renal agenesis, Butterfly vertebrae, Submucous cleft hard... |
OMIM:619227 |
| Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul... |
ORPHA:93126 |
| Alagille Syndrome |
|
Peripheral pulmonary artery stenosis, Nephrotic syndrome, Abnormal form of the vertebral bodies, ... |
ORPHA:52 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Muscle fiber atrophy, Stage 5 ... |
ORPHA:228302 |
| Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
| Perching Syndrome |
|
Respiratory distress, Dysphagia, Joint contracture, Camptodactyly, High palate, Scoliosis, Feedin... |
OMIM:617055 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypophosphatemia, Elev... |
OMIM:227810 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Vesicoureteral reflux, Patent foramen ... |
OMIM:614261 |
| Matthew-Wood Syndrome |
|
Renal hypoplasia, Annular pancreas, Duodenal stenosis, Horseshoe kidney, Vesicoureteral reflux, C... |
ORPHA:2470 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... |
OMIM:618719 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Hyperlordosis, Spina bifida occulta, Recurrent respira... |
ORPHA:1797 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
| Distal Triplication 15Q |
|
Dilatation of the renal pelvis, Abnormal heart morphology, Horseshoe kidney, Nephroblastoma, Hydr... |
ORPHA:314588 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... |
ORPHA:84081 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:620294 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Feeding difficulties, Renal insufficiency, Splenomegaly, Nausea and vomitin... |
ORPHA:79312 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Diarrhea, Abnormal circulating lactate dehydrogenase concentration, Renal in... |
ORPHA:54057 |
| Pediatric Systemic Lupus Erythematosus |
|
Nephritis, Abnormality of the urinary system, Diarrhea, Vomiting, Ascites, Dark urine, Pleural ef... |
ORPHA:93552 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Polyhydramnios, Dilated cardiomyopathy |
OMIM:300580 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Gastroesophageal reflux, Decreased liver function, Abnormal circulating enzyme concentration or a... |
ORPHA:70472 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ... |
OMIM:617713 |
| Renal Tubular Dysgenesis |
|
Abnormality of the urinary system, Renotubular dysgenesis, Anuria, Oligohydramnios, Widely patent... |
OMIM:267430 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Oligohydramnios, Acet... |
ORPHA:1143 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Hypospadias, Lateral ventricle dilatation |
OMIM:618330 |
| Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Pancreatic adenocarcinoma, Neoplas... |
ORPHA:2869 |
| Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... |
OMIM:220100 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits |
ORPHA:69063 |
| Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
| Niemann-Pick Disease, Type A |
|
Vomiting, Failure to thrive, Cherry red spot of the macula, Elevated circulating aspartate aminot... |
OMIM:257200 |
| Poland Syndrome |
|
Small hand, Finger syndactyly, Ureterocele, Cryptorchidism, Encephalocele, Renal hypoplasia/aplas... |
ORPHA:2911 |
| Cog4-Cdg |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Recurrent infection ... |
ORPHA:263501 |
| Multiple Self-Healing Squamous Epithelioma, Susceptibility To |
|
Ascending tubular aorta aneurysm, Arterial tortuosity |
OMIM:132800 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Nephrocalcinosis, Pathologic fracture, Hyperphosphaturia, Hip contracture, Knee flexi... |
OMIM:156400 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decrea... |
ORPHA:367 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Tricuspid regurgitation, ... |
ORPHA:1120 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Retinal hemorrhage, Renal insufficiency, Hematuria, Renal cyst, Raynaud phenomenon, Supraventricu... |
OMIM:611773 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... |
OMIM:143400 |
| Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... |
OMIM:613426 |
| Senior-Loken Syndrome |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Abnormality of bone min... |
ORPHA:3156 |
| Duane-Radial Ray Syndrome |
|
Aplasia of metacarpal bones, Absent radius, Fused cervical vertebrae, Syndactyly, Absent thumb, R... |
OMIM:607323 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Axillary pterygium, Webbed neck, Popliteal pterygium, Limitation of joint mobility, Camptodactyly... |
ORPHA:2990 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Joint contracture of the hand, Palpebral edema, Cryptorchidism, Death in childhood... |
OMIM:214110 |
| Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... |
OMIM:610725 |
| Interstitial Lung And Liver Disease |
|
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Vomit... |
OMIM:615486 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Aplasia/Hypoplasia of the lungs, Abnormal testis morphology, Recurrent respirato... |
ORPHA:1548 |
| Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Folate-resp... |
OMIM:601775 |
| Alg9-Cdg |
|
Bifid uvula, Periportal fibrosis, Hypoplasia of the bladder, Diarrhea, Vomiting, Gastroesophageal... |
ORPHA:79328 |
| Serkal Syndrome |
|
Abnormal penis morphology, Malrotation of small bowel, Hypoplasia of the bladder, Renal agenesis,... |
ORPHA:139466 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Hepatosplenomegaly, Abnormal renal morphology, Short neck, Protuberant abdomen |
ORPHA:221054 |
| Coach Syndrome 1 |
|
Hepatic fibrosis, Unilateral renal agenesis, Elevated circulating hepatic transaminase concentrat... |
OMIM:216360 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... |
OMIM:616501 |
| Thanatophoric Dysplasia Type 2 |
|
Platyspondyly, Limitation of joint mobility, Increased nuchal translucency, Encephalocele, Joint ... |
ORPHA:93274 |
| Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri... |
ORPHA:411536 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Distal amyotrophy, Sandal gap, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foram... |
ORPHA:477817 |
| Joubert Syndrome 7 |
|
Nephronophthisis, Episodic tachypnea, Stage 5 chronic kidney disease, Genu valgum, Encephalocele,... |
OMIM:611560 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Hematuria, Increased blood urea nitrogen, Ele... |
ORPHA:231111 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure, Hyperbi... |
OMIM:614886 |
| Mody |
|
Nephropathy, Pancreatic hypoplasia, Glycosuria, Exocrine pancreatic insufficiency, Elevated hemog... |
ORPHA:552 |
| Martsolf Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619420 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Vesicoureteral reflux, K... |
ORPHA:3208 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia |
OMIM:613730 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Nephritis, Unilateral renal atrophy, Pyelonephritis, Cryptorchidism, Varicose veins, Renal dysplasia |
OMIM:314300 |
| Glutamine Deficiency, Congenital |
|
Lateral ventricle dilatation, Neonatal death, Bradycardia, Decreased CSF glutamine concentration,... |
OMIM:610015 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... |
OMIM:614582 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Hypertrophic cardiomyopathy, Left atrial enlarg... |
OMIM:608751 |
| Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Finger syndactyly |
ORPHA:1514 |
| Immunodeficiency, Common Variable, 13 |
|
Polyhydramnios, Fetal distress |
OMIM:616873 |
| Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Short neck, Hepatomegaly, Holoprosencephaly, Ascites, Hamartoma of tongue, Median... |
OMIM:269860 |
| Glycogen Storage Disease X |
|
Renal insufficiency, Rhabdomyolysis, Myopathy, Elevated circulating creatine kinase concentration... |
OMIM:261670 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ragged-red m... |
OMIM:252011 |
| Trichohepatoenteric Syndrome 1 |
|
Galactosuria, Hepatic fibrosis, Bifid uvula, Hepatic failure, Intractable diarrhea, Cholestasis, ... |
OMIM:222470 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated circulating tetradecanoylcarnitine concentration, Increased urine alpha-ketoglutarate co... |
OMIM:619355 |
| Macular Dystrophy, Dominant Cystoid |
|
Edema, Cystoid macular edema |
OMIM:153880 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:613443 |
| Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Ascites, Stage 5 chronic kidney disea... |
OMIM:603278 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:619244 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Vomiting, Glycosuria, Decreased liver function, Hyperphosphaturia, Renal tubular d... |
ORPHA:436271 |
| Visceral Myopathy 1 |
|
Microcolon, Vomiting, Diarrhea, Urinary retention, Megacystis, Intestinal pseudo-obstruction, Mal... |
OMIM:155310 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom... |
ORPHA:84090 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Tibial torsion, Tetralogy of Fallot, Fibular aplasia, Aplasia/hyp... |
ORPHA:3320 |
| Aortic Valve Disease 3 |
|
Aortic root aneurysm, Ascending aortic dissection |
OMIM:618496 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... |
OMIM:617168 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Clinodactyly, Mitral regurgitation, Patent foramen ovale, Brachydacty... |
ORPHA:88630 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hydroureter, Limitation of joint mobility, Camptodactyly of finger, Abnormality of the upper urin... |
ORPHA:2547 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:614199 |
| Lesch-Nyhan Syndrome |
|
Hematuria, Gout, Renal insufficiency, Hyperuricemia |
ORPHA:510 |
| Glycogen Storage Disease Xi |
|
Renal insufficiency, Rhabdomyolysis, Elevated circulating creatine kinase concentration, Myoglobi... |
OMIM:612933 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... |
ORPHA:1275 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Myoglobinu... |
OMIM:231530 |
| Maleylacetoacetate Isomerase Deficiency |
|
Decreased liver function |
OMIM:617596 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Plantar te... |
ORPHA:69735 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Polyhydramnios, Congenital contracture, Death in infancy |
OMIM:225753 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
| Nephrotic Syndrome, Type 4 |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... |
OMIM:256370 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617243 |
| Thyrocerebroretinal Syndrome |
|
Nephritis, Goiter |
OMIM:274240 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short 4th metacarpal, Type E brachydactyly, Short metatarsal, Atrial septal defect |
OMIM:113301 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Block vertebrae, Anal stenosis, Myelomeningocele, Abnormal odontoid process morphology, Vertebral... |
OMIM:613686 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Pulmonary artery atresia, Tetralogy of Fallot, Heart murmur, Abnormality ... |
ORPHA:3426 |
| Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency, Fatal liver failure in infancy |
ORPHA:254857 |
| Fibular Hemimelia |
|
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... |
ORPHA:93323 |
| Autosomal Recessive Amelia |
|
Polyhydramnios, Hypoplasia of penis, Aplasia/Hypoplasia of the lungs, Cryptorchidism |
ORPHA:1027 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Renal hypoplasia, Hypogonadism, Partial atrioventricular canal defect, Re... |
OMIM:615996 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... |
ORPHA:158048 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Claw hand deformity, Distal l... |
OMIM:614455 |
| Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Hepatomegaly, Dyspnea, Abnorm... |
ORPHA:50251 |
| Thanatophoric Dysplasia Type 1 |
|
Platyspondyly, Hypoplastic ilia, Joint stiffness, Femoral bowing, Increased nuchal translucency, ... |
ORPHA:1860 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap, Ventricular septal defect |
ORPHA:2515 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy |
OMIM:614458 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Polyhydramnios |
OMIM:240900 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot, Clinodactyly of the 5th finger |
OMIM:187500 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Becker Nevus Syndrome |
|
Supernumerary nipple, Abnormal tibia morphology, Spina bifida occulta, Scoliosis, Kyphosis |
ORPHA:64755 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Left ventricular hypertrophy, Micropenis, Right ventricular hypertrophy |
ORPHA:335 |
| Trisomy 17P |
|
Aortic valve stenosis, Hypoplastic left heart, Skeletal muscle atrophy, Micrognathia, Malar flatt... |
ORPHA:261290 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy, Left ventricular hypertrophy |
OMIM:613838 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Growth delay,... |
ORPHA:1830 |
| 3-Methylglutaconic Aciduria Type 4 |
|
3-Methylglutaconic aciduria, Decreased liver function |
ORPHA:67048 |
| Fanconi Anemia, Complementation Group O |
|
Stage 5 chronic kidney disease, Cryptorchidism, Death in infancy, Neonatal death, Hydronephrosis,... |
OMIM:613390 |
| Hereditary Fructose Intolerance |
|
Chronic kidney disease, Hypermagnesemia, Diarrhea, Reduced circulating aldolase concentration, Vo... |
ORPHA:469 |
| Contractural Arachnodactyly, Congenital |
|
Aortic root aneurysm, Mitral regurgitation, Hip contracture, Mitral valve prolapse, Ventricular s... |
OMIM:121050 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Edema, Increased susceptibility to fractures, Abnormal cervical curvature, Mul... |
OMIM:312150 |
| D-Bifunctional Protein Deficiency |
|
Elevated circulating hepatic transaminase concentration, Increased circulating very long-chain fa... |
OMIM:261515 |
| Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... |
OMIM:603965 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
| Liver Disease, Severe Congenital |
|
Diarrhea, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abn... |
OMIM:619991 |
| Autosomal Recessive Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Retrognathia, Abnormal heart valve morphology, Facial... |
ORPHA:169186 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration... |
OMIM:605479 |
| Sonoda Syndrome |
|
High axial triradius, Ventricular septal defect |
OMIM:270460 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Scol... |
OMIM:616276 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... |
OMIM:614980 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Diarrhea, Vomiting, Proximal tubulopathy, Failure to thrive, Cachexia, Weight loss... |
OMIM:612075 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Osteopenia, Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medulla... |
OMIM:611555 |
| Malignant Peritoneal Mesothelioma |
|
Ileus, Peritonitis, Weight loss, Abdominal distention, Abdominal pain |
ORPHA:168811 |
| Pseudo-Torch Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Renal insuffic... |
OMIM:251290 |
| Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,... |
ORPHA:2639 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Hypoplastic cervical vertebrae, Radial bowing, Abnormal hand morphology, Dislocation of the femor... |
ORPHA:93307 |
| Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
| Roberts Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Cryptorchidism, Patellar aplasia, Bowing of the lo... |
ORPHA:3103 |
| Hyper-Igd Syndrome |
|
Renal angiomyolipoma, Hepatosplenomegaly, Splenomegaly, Elevated urine mevalonic acid level |
OMIM:260920 |
| Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Cryptorchidism, Neonatal death, Cleft palate, Pulmonary hypoplasia |
OMIM:615524 |
| Miller-Dieker Syndrome |
|
Nephropathy, Polyhydramnios, Sacral dimple |
ORPHA:531 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myocardial fibrosis |
OMIM:613873 |
| Atrial Septal Defect 2 |
|
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... |
OMIM:607941 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Lateral ventricle dilatation, Increased CSF lactate, Abnormal CSF pyruvate fami... |
ORPHA:79243 |
| Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
| Arthrogryposis Multiplex Congenita-Whistling Face Syndrome |
|
Abnormal shoulder morphology, Joint stiffness, Polyhydramnios, Adducted thumb |
ORPHA:1150 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concentration, Anemia, Hypoprote... |
OMIM:615895 |
| Al Amyloidosis |
|
Macroglossia, Nephrotic syndrome, Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Abnorma... |
ORPHA:85443 |
| Atelosteogenesis, Type I |
|
Radial bowing, Elbow dislocation, Fibular aplasia, Cryptorchidism, Encephalocele, Neonatal death,... |
OMIM:108720 |
| Gaucher Disease Type 1 |
|
Splenic infarction, Elevated circulating CCL18 level, Cholelithiasis, Hepatic failure, Increased ... |
ORPHA:77259 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula, Abnormali... |
OMIM:200980 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Facial edema, Short distal phalanx of finger, Epiphyseal stippling, Atrophy of the spinal cord, P... |
ORPHA:86822 |
| Shigellosis |
|
Cholestasis, Urethritis, Anorexia, Abnormal blood ion concentration, Abdominal pain, Intestinal p... |
ORPHA:810 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia |
ORPHA:28 |
| Hereditary Xanthinuria |
|
Hypouricemia, Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urina... |
ORPHA:3467 |
| Frank-Ter Haar Syndrome |
|
Mitral valve prolapse, Ventricular septal defect, Bowing of the long bones, Anterior concavity of... |
OMIM:249420 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Hypertension, Dehydration |
OMIM:616069 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... |
ORPHA:98826 |
| Athyreosis |
|
Constipation, Abdominal distention, Short stature, Growth delay, Feeding difficulties |
ORPHA:95713 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Clinodactyly, Polyhydramnios, Joint hypermobility, Camptodactyly, Spina bifida occulta, Scoliosis |
OMIM:617360 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatic failure, Premature birth, Desquamation of skin soon after birth, Respiratory distress, As... |
OMIM:608013 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Nephropathy, Renal insufficiency, Mitral valve prolapse |
OMIM:247410 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Block vertebrae, Supernumerary vertebrae, Oligohydramnios, Hydronephrosis, Short neck, Urethral a... |
OMIM:271520 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst, Feeding difficulties in infancy, Increased circulating very long-chain ... |
OMIM:614862 |
| 3Mc Syndrome |
|
Caudal appendage, Bilateral cryptorchidism, Supernumerary nipple, Umbilical hernia, Spina bifida ... |
ORPHA:293843 |
| Marden-Walker Syndrome |
|
High, narrow palate, Pyloric stenosis, Renal hypoplasia, Joint contracture of the hand, Congenita... |
OMIM:248700 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Platyspondyly, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Lumbar hy... |
OMIM:609616 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Fetal pericardial effusion, Hyperechogenic kidneys, Renal insufficiency, Renal corticomedullary c... |
OMIM:219730 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
| Lessel-Kubisch Syndrome |
|
Hypogonadism, Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Oligohydramnios, Proteinuria, Anhydramnios, Renal dysplasia, Pulmonary ... |
OMIM:191830 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hepatitis, Intrauterine growth retardation, Psoriasiform dermatitis, Hashimot... |
ORPHA:436252 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... |
OMIM:613091 |
| Cantu Syndrome |
|
Platyspondyly, Congenital hypertrophy of left ventricle, Erlenmeyer flask deformity of the femurs... |
OMIM:239850 |
| Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Postaxial foot polydactyly, Bicuspid aortic valve, Atrial septal defect, ... |
OMIM:615981 |
| Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Spina bifida occulta, Tethered cord |
OMIM:615281 |
| Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, H... |
ORPHA:36913 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Hydrops fetalis, Single umbilical artery |
ORPHA:3405 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle |
OMIM:619725 |
| Takayasu Arteritis |
|
Vasculitis, Gastrointestinal infarctions, Arterial stenosis, Increased inflammatory response, Wei... |
ORPHA:3287 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... |
ORPHA:139402 |
| Glutamate Formiminotransferase Deficiency |
|
Positive ferric chloride test, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Biventricular hypertrophy, Patent foramen ovale, Ventricular septal defect, Hypokalemia, Decrease... |
OMIM:615474 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Gastroesophageal reflux, Apnea, Cryptorchidism, Hip contracture, Kn... |
ORPHA:85201 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Dysplasia of the femora... |
ORPHA:93284 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Elevated circulat... |
OMIM:615418 |
| Larsen-Like Syndrome, Lethal Type |
|
Multiple joint dislocation, Joint dislocation, Tracheomalacia, Neonatal death, Abnormal cartilage... |
OMIM:245650 |
| Hyperparathyroidism 1 |
|
Hypercalcemia, Primary hyperparathyroidism |
OMIM:145000 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Diarrhea, Hepatic steatosis, Death in childhood, Feeding difficulties in infancy, Hepatomegaly, N... |
OMIM:212065 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Anorexia, Cholecystitis, Intermittent jaundice, Biliary tract obstruction... |
ORPHA:100086 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Rhizomelia, Radial bowing, Flared meta... |
OMIM:602111 |
| Acrofacial Dysostosis, Palagonia Type |
|
Small hand, Finger syndactyly, Abnormal form of the vertebral bodies, Short 4th metacarpal, Short... |
ORPHA:1787 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Hepatic failure, Portal hypertension, Cholecystitis, S... |
OMIM:620367 |
| Joubert Syndrome 3 |
|
Stage 5 chronic kidney disease, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, N... |
OMIM:608629 |
| Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Subpleural interstitial thickening, Respiratory tract infection, Hepatomega... |
ORPHA:79128 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Genu valgum, Mitral regurgitat... |
OMIM:143095 |
| Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Renal insufficiency, Increased total bilirubin |
ORPHA:890 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Increased nuchal translucency, Dysplastic ... |
ORPHA:544488 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Short neck, Breech presentation, Hepatomegaly, Tube feeding, High palate, Spinal... |
OMIM:620369 |
| Congenital Myopathy 11 |
|
Polyhydramnios, Breech presentation, Decreased fetal movement |
OMIM:619967 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... |
ORPHA:159 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Decreased fetal movement, Feeding difficulties in infancy, Hyperlordosis, Dysphagia, Polyhydramni... |
OMIM:161800 |
| Larsen Syndrome |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Cryptorchidism, Beaking of vertebral bodies, S... |
OMIM:150250 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Lymphedema |
OMIM:152900 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
ORPHA:71212 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Postaxial foot polydactyly, Overlapping fingers, Butterfly vertebrae, Ventricular septal defect, ... |
OMIM:301056 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Hepatosplenomegaly, Spl... |
ORPHA:1655 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
| Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Acute h... |
OMIM:615438 |
| Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Postnatal growth retardation, Hyperlipidemia, Increased hepatic gly... |
OMIM:232700 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
| Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... |
ORPHA:167 |
| Fetal Akinesia Deformation Sequence |
|
Camptodactyly of finger, Pterygium, Cryptorchidism, Multiple joint contractures, Fetal akinesia s... |
ORPHA:994 |
| Complement Factor H Deficiency |
|
Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Glomerular subendothel... |
OMIM:609814 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Edema, Increased susceptibility to fractures, Abnormal cervical curvature, Mul... |
OMIM:253290 |
| Naxos Disease |
|
Dilated cardiomyopathy, Palmoplantar keratoderma, Congestive heart failure, Abnormal heart morpho... |
OMIM:601214 |
| Cocaine Intoxication |
|
Acute kidney injury, Vomiting, Aortic dissection, Gastrointestinal infarctions, Ischemic stroke, ... |
ORPHA:90068 |
| Congenital Short Bowel Syndrome |
|
Decreased intestinal transit time, Vomiting, Failure to thrive, Abnormal peristalsis, Abdominal d... |
OMIM:615237 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Decreased liver function, Hyperphosphaturia, Renal tubular dysfunction... |
OMIM:220110 |
| Lysosomal Acid Lipase Deficiency |
|
Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Elevated circulating alkaline p... |
ORPHA:275761 |
| Even-Plus Syndrome |
|
Epiphyseal dysplasia, Dysplasia of the femoral head, Oligohydramnios, Patent foramen ovale, Short... |
OMIM:616854 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Generalized edema, Oligohydramnios, Hydroureter, Fetal megacystis |
OMIM:249210 |
| Senior-Loken Syndrome 9 |
|
Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Tubulointerstiti... |
OMIM:616629 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Vomiting, Mic... |
OMIM:203700 |
| Infantile Liver Failure Syndrome 2 |
|
Vomiting, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hyperam... |
OMIM:616483 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect, Rhizomelic arm shortening, Kyphoscoliosis, Polyhydramnios, Short l... |
ORPHA:96190 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Osteomalacia, Cryptorchidism, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Amino... |
ORPHA:534 |
| Cirrhosis, Familial |
|
Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Jaundice, Cirrho... |
OMIM:215600 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Ventricular septal defect |
OMIM:614876 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating abilit... |
OMIM:614227 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Small hand, Webbed neck, Broad femoral neck, Thickened cortex of long bones, Short ne... |
ORPHA:488434 |
| Mucolipidosis Ii Alpha/Beta |
|
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Limitation of joint mobility, Myelo... |
OMIM:252500 |
| Donohue Syndrome |
|
Hepatic fibrosis, Long penis, Cholestasis, Postnatal growth retardation, Intrauterine growth reta... |
OMIM:246200 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... |
DECIPHER:39 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Toe syndactyly, Thoracic aortic aneurysm, Dextrotranspo... |
OMIM:619657 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy |
OMIM:540000 |
| 17Q12 Microduplication Syndrome |
|
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Atrial septal defect, Polyhydra... |
ORPHA:261272 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Endocardial fibrosis, Abnormal heart valve mor... |
ORPHA:75566 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Short thumb, Abnormal heart morphology, Limited elbow extension and supination, Truncus arteriosu... |
ORPHA:401935 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency |
OMIM:607832 |
| Tangier Disease |
|
Distal amyotrophy, Facial diplegia, Hypertriglyceridemia, Splenomegaly, Elevated circulating apol... |
OMIM:205400 |
| Loeys-Dietz Syndrome 4 |
|
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ... |
OMIM:614816 |
| Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Ventricular septal defect |
ORPHA:1918 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Polyhydramnios, Occipital meningocele, Anencephaly, Short neck, Hydrocephalu... |
OMIM:616546 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| 2Q31.1 Microdeletion Syndrome |
|
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Ventricular septal defect, Short ne... |
ORPHA:251014 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Low-molecular-weight proteinuria, Renal insuffi... |
OMIM:134600 |
| Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... |
OMIM:620049 |
| Esophageal Atresia |
|
Abnormal vertebral morphology, Esophagitis, Episodic respiratory distress, Feeding difficulties i... |
ORPHA:1199 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Thin skin, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Elbow flexi... |
OMIM:151050 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Beta 2-microglobulinuria, Glyco... |
ORPHA:97362 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Hypospadias, Joint dislocation, Respiratory distress, Scoliosis, Feeding difficulties |
OMIM:300934 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Dandy-Walker malformation, Pleural effusion, Lateral ventricle dilatation, Edema |
OMIM:618606 |
| Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Neonatal death, Bowing of the long bones, Pulmonary arterial hypertensi... |
OMIM:619751 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Hyperalaninemia |
OMIM:614654 |
| Temple-Baraitser Syndrome |
|
Short distal phalanx of finger, Broad thumb, Broad hallux, Long hallux, Pseudoepiphysis of the th... |
OMIM:611816 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Anasarca, Respiratory distress, Ascites, Apnea, Pleural effusion, Peripheral edema, Pulmonary ede... |
OMIM:261740 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Noonan Syndrome 12 |
|
Spinal canal stenosis, Tetralogy of Fallot, Supravalvular aortic stenosis, Ventricular septal def... |
OMIM:618624 |
| Central Diabetes Insipidus |
|
Diarrhea, Failure to thrive, Nocturia, Nausea and vomiting, Hyponatremia, Weight loss, Anorexia |
ORPHA:178029 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Gastroesophageal reflux, Intestinal malrotation, Vesicoureteral ref... |
ORPHA:2059 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy |
ORPHA:444013 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... |
OMIM:617609 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation |
OMIM:617668 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna |
ORPHA:1118 |
| Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy |
OMIM:620145 |
| Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
| Jeune Syndrome |
|
Nephropathy, Nephronophthisis, Abnormality of the liver, Renal insufficiency, Feeding difficultie... |
ORPHA:474 |
| Nemaline Myopathy 2 |
|
Congenital contracture, Arthrogryposis multiplex congenita, Feeding difficulties, Apnea, Decrease... |
OMIM:256030 |
| Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Splenomegaly, Hepatomegaly, Osteopetrosis, Polyhy... |
OMIM:618541 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ... |
OMIM:274150 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Joint hypermobility, Weakness of facial musculature, Increased blood urea nitroge... |
OMIM:223360 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Dysplastic patella, Cryptorchidism, Patellar aplasia, Short neck, Thoracol... |
OMIM:265000 |
| Johanson-Blizzard Syndrome |
|
Anemia, Hypoproteinemia |
ORPHA:2315 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| Lethal Congenital Contracture Syndrome 2 |
|
Polyhydramnios, Decreased fetal movement, Hydronephrosis, Edema |
OMIM:607598 |
| Langer Mesomelic Dysplasia |
|
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... |
OMIM:249700 |
| Pancreatoblastoma |
|
Vomiting, Diarrhea, Pancreatic calcification, Abdominal pain, Weight loss, Abdominal distention, ... |
ORPHA:677 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot, Perineal hypospadias, Corpus cavernosum hypoplasia, Microphallus |
OMIM:615542 |
| Tropical Pancreatitis |
|
Vomiting, Malnutrition, Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic ca... |
ORPHA:103918 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... |
OMIM:265300 |
| Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis |
OMIM:611498 |
| Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Bilateral renal agenesis, Abnormal lung lobation, Ureteral agenesis, A... |
OMIM:617667 |
| Laryngeal Neuroendocrine Tumor |
|
Oral-pharyngeal dysphagia, Elevated circulating carcinoembryonic antigen concentration, Adrenocor... |
ORPHA:100083 |
| Achondroplasia |
|
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Premature rupture of membran... |
OMIM:100800 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... |
ORPHA:247585 |
| Grange Syndrome |
|
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... |
ORPHA:79094 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... |
OMIM:206100 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, Hypertrophi... |
ORPHA:1842 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in childhood, Breech presentation, Periorbital edema, Rectal prolapse, Osteopenia, Multiple... |
OMIM:613177 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Ri... |
OMIM:307800 |
| Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Chylothorax, Congestive heart failure, Lymphedema, Cerebral ischemia, High-output cong... |
ORPHA:137667 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Micropenis, Ventriculomegaly, Dilated third ventricle, Hydrocephalus |
ORPHA:500055 |
| Tonne-Kalscheuer Syndrome |
|
Velopharyngeal insufficiency, Decreased testicular size, Cryptorchidism, Dysphagia, Micropenis, H... |
OMIM:300978 |
| Acrorenal Syndrome |
|
Abnormal tibia morphology, Aplasia/Hypoplasia of the radius, Split hand, Abnormal morphology of ulna |
ORPHA:971 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Rickets, Diarrhea, Vomiting, Death in childhood, Death in adolescence, Poly... |
OMIM:560000 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Abnormal peritoneum morphology, Anorexia |
ORPHA:2023 |
| Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... |
OMIM:615517 |
| Attrv30M Amyloidosis |
|
Nephropathy, Diarrhea, Cardiomegaly, Constipation, Weight loss, Abnormal renal physiology |
ORPHA:85447 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Stage 5 chronic kidney disease, ... |
ORPHA:94059 |
| Porphyria Cutanea Tarda |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... |
ORPHA:101330 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Urinary incontinence, Predominantly lower limb lymphedema, Dilated third ventricle, Abnormal cere... |
ORPHA:314404 |
| Primary Biliary Cholangitis |
|
Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration... |
ORPHA:186 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Rickets, Renal insufficiency, Renal tubular... |
ORPHA:213 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Failure to thrive, Decreased glomerular filtration rate, Reduce... |
OMIM:602522 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital pulmonary airway malformation, Hypoplasia of the bladder, Renal agenesis, Bilateral lu... |
OMIM:611812 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy |
OMIM:618228 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Abnormal lung lobation, Cryptorchidism, Aplasia/Hypoplasia of the l... |
ORPHA:3301 |
| Epidermal Nevus Syndrome |
|
Osteopenia, Rhabdomyosarcoma, Polycystic kidney dysplasia, Weakness of long finger extensor muscles |
ORPHA:35125 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Vomiting, Intestinal pseudo-obstruction, Hydronephrosis, Feeding difficulties in infancy, Abdomin... |
OMIM:300048 |
| Cach Syndrome |
|
T2 hypointense thalamus, Renal hypoplasia, Oligohydramnios, Lateral ventricle dilatation |
ORPHA:135 |
| Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... |
ORPHA:3202 |
| Classic Galactosemia |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Abn... |
ORPHA:79239 |
| Gaucher Disease Type 2 |
|
Abnormal pattern of respiration, Respiratory distress, Splenomegaly, Dysphagia, Hepatomegaly, Rec... |
ORPHA:77260 |
| Congenital Gerbode Defect |
|
Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en... |
ORPHA:99095 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Meacham Syndrome |
|
Accessory spleen, Horseshoe kidney, Congenital alveolar dysplasia, Scimitar anomaly, Death in chi... |
OMIM:608978 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... |
ORPHA:64743 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Microcolon, Hepatic failure, Hydroureter, Megacystis, Intestinal malrotation, Portal hypertension... |
OMIM:619431 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Bronchopulmonary Dysplasia |
|
Right ventricular hypertrophy |
ORPHA:70589 |
| Masa Syndrome |
|
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:303350 |
| Farber Disease |
|
Hepatic fibrosis, Recurrent upper respiratory tract infections, Hepatic failure, Atelectasis, Res... |
ORPHA:333 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hydronephrosis, Hypoplastic nipples, Patent ductus arteriosus, Delayed puberty, Short stature, Cy... |
ORPHA:480880 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly |
OMIM:224100 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:617205 |
| Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney, Thin skin |
OMIM:613630 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... |
ORPHA:415 |
| Multiple Endocrine Neoplasia Type 2 |
|
Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p... |
ORPHA:653 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Fixed Subaortic Stenosis |
|
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... |
ORPHA:3092 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Glandular hypospadias, Polyhydramnios, Penile hypospadias, Cryptorchidism, Joint hypermobility, P... |
ORPHA:456328 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Diarrhea, Increased circulating lactate dehydrogenase concentration, Anuria,... |
ORPHA:90038 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Diarrhea, Purple urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin concent... |
ORPHA:100924 |
| Lymphatic Malformation 14 |
|
Lymphedema |
OMIM:620602 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Renal insufficiency, Rhabdomyolysis, Elevated circulating creatine kinase concentration, Myoglobi... |
ORPHA:2364 |
| Alport Syndrome 3B, Autosomal Recessive |
|
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... |
OMIM:620536 |
| Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Hemorrhagic ovarian cyst, Ascites, Peripheral edema, Pleural effusion, Nausea ... |
ORPHA:64739 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Male urethral meatus stenosis, Agenesis of... |
ORPHA:464738 |
| Spondyloperipheral Dysplasia |
|
Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala... |
OMIM:271700 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Oligohydramnios, Lateral ventricle dilatation |
OMIM:614219 |
| Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Overlapping fingers, Femoral bowing, Oligohydramnios, Thoracic scoliosis, Fetal akine... |
OMIM:617022 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Polyhydramnios |
ORPHA:521390 |
| Hajdu-Cheney Syndrome |
|
Genu valgum, Fibular bowing, Cryptorchidism, Crowded carpal bones, Short neck, Dislocated radial ... |
OMIM:102500 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre... |
OMIM:235400 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm... |
ORPHA:154 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis... |
OMIM:154230 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Septic arthritis, Failure to thrive, Osteomyelitis, Arthritis, Abdominal distention, Hepatomegaly... |
OMIM:619423 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Renal phosphate wasting, Calcium nephrolithiasis, Rickets, Bulgi... |
OMIM:241530 |
| Congenital Enterovirus Infection |
|
Fetal ascites, Hepatic failure, Hepatitis, Fetal distress, Respiratory distress, Cholestasis, Ple... |
ORPHA:292 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Aortic Valve Disease 2 |
|
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta, Aortic tortuosity, Ascending a... |
OMIM:614823 |
| Mosaic Monosomy X |
|
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Gastro... |
ORPHA:99228 |
| Monosomy X |
|
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Gastro... |
ORPHA:99226 |
| Turner Syndrome |
|
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Gastro... |
ORPHA:881 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Gastro... |
ORPHA:99413 |
| Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Left ventricular hypertrophy, Hyper... |
ORPHA:251274 |
| Chylomicron Retention Disease |
|
Vomiting, Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive, H... |
ORPHA:71 |
| Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... |
ORPHA:905 |
| Pituitary Adenoma 1, Multiple Types |
|
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... |
OMIM:102200 |
| Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Cryptorchid... |
OMIM:613834 |
| Autosomal Recessive Primary Microcephaly |
|
Unilateral renal agenesis, Vesicoureteral reflux, Abnormal cortical bone morphology |
ORPHA:2512 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Stage 5 chronic kidney d... |
OMIM:194080 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:614830 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis, Neonatal death |
OMIM:276822 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Focal pancreatic islet hyperpl... |
ORPHA:276575 |
| Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... |
OMIM:113650 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Nephrocalcinosis, Joint hypermobility, Polyhydramnios, Feeding difficulties, Premature birth |
OMIM:611087 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Abnormal sweat gland morphology, Predominantly lower limb lymphedema, Palmar telangiectasia, Noni... |
OMIM:607823 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Rhyns Syndrome |
|
Chronic kidney disease, Osteopenia, Nephronophthisis, Decreased response to growth hormone stimul... |
OMIM:602152 |
| Vacterl With Hydrocephalus |
|
Absence of the sacrum, Renal agenesis, Abnormal form of the vertebral bodies, Cryptorchidism, Ren... |
ORPHA:3412 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Tricuspid regurgitation, ... |
OMIM:620371 |
| Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Oligohydr... |
ORPHA:411709 |
| Gm1-Gangliosidosis, Type I |
|
Abnormality of the urinary system, Joint stiffness, Splenomegaly, Death in infancy, Hypoplastic v... |
OMIM:230500 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Respiratory distress, Increased level of methylsuccinic acid in urine, Hep... |
ORPHA:26792 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Dilated third ventricle, Lateral ventricle dilatation, Renal tubular acidosis, Hydr... |
OMIM:619575 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Toe syndactyly, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis |
OMIM:613779 |
| Meckel Syndrome, Type 10 |
|
Malformation of the hepatic ductal plate, Bifid uvula, Renal cyst, Micropenis, Hypospadias, Cleft... |
OMIM:614175 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Diarrhea, Elevated total serum tryptase, Decreased liver function, H... |
ORPHA:98850 |
| Triploidy |
|
Finger syndactyly, Abnormality of the gallbladder, Polyhydramnios, Cryptorchidism, Decreased skul... |
ORPHA:3376 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Rhizomelia, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Ventric... |
ORPHA:93267 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
| Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... |
OMIM:620570 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... |
OMIM:104200 |
| Primary Pulmonary Hypoplasia |
|
Abnormal pulmonary artery morphology, Ureteral stenosis, Patellar hypoplasia, Apnea, Tachypnea, P... |
ORPHA:2257 |
| Coach Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi... |
OMIM:619113 |
| Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Malabsorption, Puncta... |
ORPHA:92050 |
| Arterial Tortuosity Syndrome |
|
Gastroesophageal reflux, Aortic root aneurysm, Aortic dissection, Arterial stenosis, Esophagitis,... |
ORPHA:3342 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Proteinuria, Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
| Agnathia-Otocephaly Complex |
|
Microglossia, Tracheomalacia, Respiratory distress, Aglossia, Polyhydramnios, Holoprosencephaly, ... |
OMIM:202650 |
| Hoxha-Aliu Syndrome |
|
Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Atrial septal defect, Sh... |
OMIM:620662 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Hepatic failure, Splenomegaly, Infectious encephalitis, Elevated circulating C-r... |
OMIM:308240 |
| Mmep Syndrome |
|
Triphalangeal thumb, Split foot, Ventricular septal defect |
ORPHA:3434 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:3303 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Diarrhea, Gastroesophageal reflux, Vomiting, Elevated circulating creatinine concentration, Feedi... |
OMIM:223900 |
| Dubowitz Syndrome |
|
Small hand, Toe syndactyly, Broad thumb, Delayed cranial suture closure, Cryptorchidism, Aplasia/... |
ORPHA:235 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Goiter, Respiratory distress, Umbilical hernia, Feeding difficul... |
ORPHA:226313 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:300573 |
| Duodenal Atresia |
|
Polyhydramnios |
ORPHA:1203 |
| H Syndrome |
|
Hypogonadism, Decreased testicular size, Hepatosplenomegaly, Recurrent fractures, Azoospermia, Ca... |
ORPHA:168569 |
| Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:618176 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Short thumb, Tetralogy of Fallot, Mitral regurgitation, Mitral valve pro... |
OMIM:612561 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... |
OMIM:146255 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... |
OMIM:115197 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... |
ORPHA:1686 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... |
OMIM:610805 |
| Malaria |
|
Respiratory distress, Acute kidney injury, Nausea and vomiting |
ORPHA:673 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
| Ritscher-Schinzel Syndrome 3 |
|
Short 1st metacarpal, Atrioventricular canal defect, Short first metatarsal, Epiphyseal stippling... |
OMIM:619135 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Toe syndactyly, Hydroureter, Hypoplasia of the bladder, 3-4 toe syndactyly, Crossed fused renal e... |
OMIM:300707 |
| Pentasomy X |
|
Small hand, Camptodactyly of finger, Radioulnar synostosis, Abnormal cardiac septum morphology, H... |
ORPHA:11 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the tongue, Respiratory distress, Po... |
ORPHA:2759 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Vomiting, Abdominal distention, Enterocolitis, Constipation |
OMIM:142623 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Vomiting, Rickets, Distal renal tubular acidosis, Hypercalciuria, Dehydration |
OMIM:602722 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope,... |
ORPHA:276556 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| Wilson Disease |
|
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... |
OMIM:277900 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation |
OMIM:619517 |
| Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio... |
ORPHA:1454 |
| Microvillus Inclusion Disease |
|
Nephrocalcinosis, Diarrhea, Abdominal distention, Villous atrophy, Abnormal small intestinal vill... |
ORPHA:2290 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Aplastic clavicle, Metaphyseal cupping, Platyspondyly, Abnormal epiphysis m... |
ORPHA:50945 |
| 3Mc Syndrome 1 |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Short 5th finger, Caudal appendage, Supern... |
OMIM:257920 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Pterygium, Congenital pyloric ... |
ORPHA:79403 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Overlapping toe, Genu valgum, Mitral regurgitation, Carpal bone hypoplasia, Short neck, Beaking o... |
ORPHA:457395 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Abdominal dist... |
OMIM:619351 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Cryptorchidism, Hip cont... |
OMIM:210710 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Feeding difficulties, Polyhydramnios, Cryptorchidism, Decreased fetal movement, Joint ... |
ORPHA:98905 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
| Ovarian Fibroma |
|
Abdominal distention, Ascites, Abnormality of the ovary, Pleural effusion, Ovarian fibroma, Perit... |
ORPHA:314473 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic tran... |
OMIM:619525 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Diarrhea, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Intrahepatic ch... |
OMIM:211600 |
| Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
| Al-Gazali Syndrome |
|
Osteopenia, Broad distal phalanx of finger, Proximal radio-ulnar synostosis, Hydronephrosis, Wris... |
OMIM:609465 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Intermediate Nemaline Myopathy |
|
Decreased fetal movement, Multiple prenatal fractures, Polyhydramnios, Flexion contracture, Arthr... |
ORPHA:171433 |
| Penile Agenesis |
|
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Bilateral lung agenesis, Unila... |
ORPHA:49 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Polyhydramnios, Nephrocalcinosis, Feeding difficulties, Joint hypermobility |
ORPHA:500533 |
| Developmental And Epileptic Encephalopathy 75 |
|
Prolonged neonatal jaundice, Feeding difficulties in infancy, Decreased liver function |
OMIM:618437 |
| Holzgreve Syndrome |
|
Webbed neck, Aplasia/Hypoplasia of the tongue, Abnormal mesentery morphology, Joint stiffness, Ol... |
ORPHA:2167 |
| Bacterial Toxic-Shock Syndrome |
|
Diarrhea, Glomerulonephritis, Abdominal pain, Recurrent skin infections, Osteomyelitis, Elevated ... |
ORPHA:36234 |
| Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Splenomeg... |
OMIM:606003 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux... |
OMIM:613658 |
| Congenital Syphilis |
|
Pneumonia, Periostitis, Diarrhea, Hepatosplenomegaly, Large placenta, Malabsorption, Synovitis, O... |
ORPHA:499009 |
| Gapo Syndrome |
|
High, narrow palate, Breast hypoplasia, Hypoplastic nipples, Tubulointerstitial fibrosis, Hepatom... |
OMIM:230740 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:301028 |
| American Trypanosomiasis |
|
Periorbital edema, Cardiomyopathy, Congestive heart failure, Pallor, Splenomegaly, Arrhythmia, My... |
ORPHA:3386 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Cryptorchidism, Myopathy, Congenital hypo... |
ORPHA:2323 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... |
ORPHA:363705 |
| Attenuated Familial Adenomatous Polyposis |
|
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Multiple renal cyst... |
ORPHA:220460 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... |
OMIM:226990 |
| Paganini-Miozzo Syndrome |
|
Urinary incontinence, Lateral ventricle dilatation |
OMIM:301025 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy, Nonketotic hyperglycinemia |
ORPHA:401866 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular... |
OMIM:619167 |
| Camurati-Engelmann Disease |
|
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Skeletal muscle atrophy... |
ORPHA:1328 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:616032 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Craniosynostosis, Congenital hypothyroidism, Cardiomegaly |
ORPHA:88643 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Pneumonia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Nep... |
ORPHA:247691 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho... |
OMIM:619849 |
| Variant Abeta2M Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis, Pathologic fracture, Abnormal skeletal muscle morpholo... |
ORPHA:314652 |
| Renal Coloboma Syndrome |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... |
ORPHA:1475 |
| Congenital Myopathy 10A, Severe Variant |
|
Gastroesophageal reflux, Camptodactyly of finger, Respiratory distress, Decreased fetal movement,... |
OMIM:614399 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... |
ORPHA:913 |
| Sepsis In Premature Infants |
|
Oliguria, Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointes... |
ORPHA:90051 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
| Isotretinoin Syndrome |
|
Spina bifida occulta, Sacral dimple |
ORPHA:2305 |
| Verheij Syndrome |
|
Renal hypoplasia, Renal agenesis, Intrauterine growth retardation, Truncus arteriosus, Renal cyst... |
OMIM:615583 |
| Roifman Syndrome |
|
Biconvex vertebral bodies, Short toe, Irregular femoral epiphysis, Hip contracture, Ventricular s... |
OMIM:616651 |
| Radio-Renal Syndrome |
|
High, narrow palate, Multicystic kidney dysplasia, Chylothorax, Renal agenesis, Abnormal form of ... |
ORPHA:3015 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Fetal polyuria, Medullary nephrocalcinosis, Hypercalciuria, Polyuria, Polyhydramnios, Premature b... |
OMIM:300971 |
| Posterior Urethral Valve |
|
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... |
ORPHA:93110 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Oligohydramnios, Cardiomegaly, Perimembranous ventricular septal def... |
OMIM:620135 |
| Say Syndrome |
|
Short distal phalanx of finger, Micrognathia, Cystic renal dysplasia, Proximal renal tubular acid... |
OMIM:181180 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid... |
ORPHA:2239 |
| Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Pancreatic calcification, Recurrent pancre... |
ORPHA:676 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hematochezia, Aortic dissection, Pulmonary arteriovenous malformation, Stroke, Hepatic arterioven... |
OMIM:175050 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hypoplastic left heart, Broad thumb, Prominent fingertip pads, Thoracic hemivertebrae, Genu valgu... |
OMIM:619721 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atlantoaxial dislocation, Radioulnar synostosis, Beaking of vertebral bodies, Anterior atlanto-oc... |
ORPHA:536467 |
| Phenobarbital Embryopathy |
|
Tetralogy of Fallot, Aplasia/Hypoplasia of fingers, Brachydactyly, Abnormal mitral valve morphology |
ORPHA:1919 |
| Down Syndrome |
|
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Ventricular septal defect, Atria... |
OMIM:190685 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hepatic failure, Malabsorption, Cryptorchidism, Hydronephrosis, Fee... |
ORPHA:912 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Urinary incontinence, Lateral ventricle dilatation |
OMIM:221770 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... |
ORPHA:99901 |
| Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal shoulder morphology, Congenital muscular torticolli... |
ORPHA:2345 |
| 8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Branchial cyst, Short neck, Feeding difficulties in infancy, Abnorma... |
ORPHA:508488 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pulmon... |
OMIM:300887 |
| Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Chronic diarrhea, Fat malabsorption |
ORPHA:309108 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Epiphyseal stippling, Short 4th metacarpal, Short long bone, S... |
OMIM:118651 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... |
ORPHA:976 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Webbed neck, Abnormality of the urethra, Oligohydramnios, Abnormality of the upper urinary tract,... |
ORPHA:2145 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Hyperuricemia, Hprt-Related |
|
Hyperuricosuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis |
OMIM:300323 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Lymphedema, Oligohydramnios, Hydrops fetalis, Hydrocele testis |
OMIM:601927 |
| Alagille Syndrome 1 |
|
Focal segmental glomerulosclerosis, Duplicated collecting system, Hepatic failure, Elevated circu... |
OMIM:118450 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy, Ventricular septal hypertrophy, Left ... |
OMIM:608758 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... |
ORPHA:93101 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Pancreatitis, Hepatomegaly |
ORPHA:289916 |
| Castleman Disease |
|
Myelofibrosis, Anasarca, Ureteral obstruction, Renal insufficiency, Nausea and vomiting, Intestin... |
ORPHA:160 |
| Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:616893 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Dicarboxylic aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, ... |
OMIM:611126 |
| Li-Campeau Syndrome |
|
Patellar hypoplasia, Patent foramen ovale, Ventricular septal defect, Single transverse palmar cr... |
OMIM:619189 |
| Phaver Syndrome |
|
Ulnar deviation of finger, Broad thumb, Short thumb, Abnormal form of the vertebral bodies, Campt... |
ORPHA:2876 |
| Lambert Syndrome |
|
Cholestasis, Jaundice, Intrahepatic biliary atresia, Hypospadias |
ORPHA:1296 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Myositis, Elevated circulating creatine kinase concentration, Biliary atresia |
ORPHA:565899 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Facial palsy |
ORPHA:3416 |
| Non-Functioning Paraganglioma |
|
Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges... |
ORPHA:94080 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Malnutrition, Gastroparesis, Vascular dilatation, Abdominal distention, Abdominal pain |
OMIM:277320 |
| Volvulus Of Midgut |
|
Neonatal intestinal obstruction, Constipation, Abdominal distention |
OMIM:193250 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Webbed neck, Generalized edema, Tetralogy of Fallot, Right aortic arch, ... |
OMIM:617478 |
| Dent Disease 2 |
|
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... |
OMIM:300555 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Hypocystinemia, Decreased serum creatinine, Recurrent skin infections, Feedi... |
OMIM:617744 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... |
OMIM:609057 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Secretory diarrhea, Intestinal malrotation, Renal duplication, Abdominal distention, Polyhydramni... |
OMIM:270420 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Nasogastric tube feeding, Dysphagia, Nonimmune hydrops fetalis |
ORPHA:477774 |
| Mckusick-Kaufman Syndrome |
|
Congenital hip dislocation, Hydroureter, Vesicovaginal fistula, Edema, Cryptorchidism, Hydronephr... |
OMIM:236700 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Vomiting, Aplasia of ... |
ORPHA:158684 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Lateral ventricle dilatation |
OMIM:607596 |
| Neonatal Lupus Erythematosus |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnormality of the live... |
ORPHA:398124 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Gastroesophageal reflux, Aortic aneurysm, Urinary incontinence, Short stature, Feeding difficulties |
OMIM:620070 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Peroxisome Biogenesis Disorder 1B |
|
Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis, Hepatomegaly |
OMIM:601539 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Gastroesophageal reflux, Decreased liver function, Elevated circulating aspartate aminotransferas... |
OMIM:608779 |
| 20Q13.33 Microdeletion Syndrome |
|
Hematochezia, Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Prominent ... |
ORPHA:261311 |
| Fryns Syndrome |
|
Joint contracture of the hand, Cryptorchidism, Short neck, Anal atresia, Hypospadias, Duodenal at... |
OMIM:229850 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Skeletal muscle atrophy, Hypertrophic cardiomyopathy... |
ORPHA:368 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Clinodactyly, Long hallux, Overlapping toe, Ventricular septal defect, Bic... |
OMIM:618164 |
| Avian Influenza |
|
Pneumonia, Acute kidney injury, Myelitis, Diarrhea, Hepatitis, Vomiting, Respiratory distress, Pl... |
ORPHA:454836 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplastic cervical vertebrae, Ventricular septal defect, Stippling of the epiphyses of the dist... |
ORPHA:79345 |
| Atrial Septal Defect 4 |
|
Coarctation of aorta, Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
| Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Generalized edema, Thin glomerular basement membrane, Stage 5 chronic kid... |
OMIM:615244 |
| Congenital Myopathy 12 |
|
High, narrow palate, Joint contracture of the hand, Poor suck, Death in infancy, Decreased fetal ... |
OMIM:612540 |
| Gm1 Gangliosidosis Type 1 |
|
Platyspondyly, Aspiration pneumonia, Beaking of vertebral bodies T12-L3, Hepatosplenomegaly, Urin... |
ORPHA:79255 |
| Acro-Renal-Mandibular Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Oligohydramnios, Butterfly ve... |
ORPHA:958 |
| Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Decreased fetal movement, Arachnodactyly, Low 5-minute APGAR score, Slender toe, ... |
OMIM:310400 |
| Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea, Edema, Premature birth |
OMIM:267450 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Scoliosis, Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Y-s... |
OMIM:175700 |
| Fabry Disease |
|
Nephropathy, Abnormal circulating lipid concentration, Hypertrophic cardiomyopathy, Hyperlipidemi... |
ORPHA:324 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... |
OMIM:613320 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:613153 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Enlargement of the wrists, Fibular b... |
OMIM:600081 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Gastroesophageal reflux, Chronic constipation, Bilateral cleft pala... |
OMIM:618829 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Abdominal distention, Recurrent urinary tract infections, Recurrent infection of the gastrointest... |
ORPHA:51890 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Renal insufficiency, Cryptorchidism, Hydronephrosis, Left ventricular hypertrophy, Ca... |
OMIM:611209 |
| Alport Syndrome 1, X-Linked |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... |
OMIM:301050 |
| Fabry Disease |
|
Lipiduria, Renal insufficiency, Proteinuria, Ventricular septal hypertrophy, Left ventricular hyp... |
OMIM:301500 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Ventriculomegaly, Lateral ventricle dilatation, Decreased glomerular filt... |
ORPHA:488627 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... |
ORPHA:268 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Pancreatic hypoplasia, Eczematoid dermatitis, Cryptorchidism, Superficial dermal ... |
ORPHA:83617 |
| Childhood-Onset Nemaline Myopathy |
|
Neuromuscular dysphagia, Arthrogryposis multiplex congenita, Fetal akinesia sequence, Breech pres... |
ORPHA:171439 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Joint contracture of the hand, Congenital contracture, Abnormal heart morphology, Joint contractu... |
ORPHA:352490 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... |
ORPHA:26793 |
| Congenital Disorder Of Glycosylation, Type Ir |
|
Gastroesophageal reflux, Decreased liver function, Chronic constipation |
OMIM:614507 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope,... |
ORPHA:276580 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular... |
ORPHA:83473 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Spina bifida occulta, Abnormal digit morphology |
OMIM:268850 |
| Gm1 Gangliosidosis |
|
Platyspondyly, Coarse metaphyseal trabecularization, Abnormal epiphysis morphology, Abnormal diap... |
ORPHA:354 |
| Alpha-Thalassemia |
|
Generalized edema, Cholelithiasis, Congestive heart failure, Hepatosplenomegaly, Hypersplenism, P... |
ORPHA:846 |
| Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Bilateral single transverse palmar creases, Ventricular septal defect, Trans... |
ORPHA:1913 |
| Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... |
OMIM:616818 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Metaphyseal spurs, Micromelia, Irregular epiphyses, Small epiphyses, Femoral bowin... |
OMIM:608728 |
| Retinitis Pigmentosa 89 |
|
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, ... |
OMIM:618955 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Kyphosis, Feeding difficulties, Polyhydramnios, Hip contracture, Fetal akinesia sequence, Limited... |
OMIM:301041 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... |
ORPHA:2141 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... |
OMIM:619371 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Acute hepatic failure, Hepatic s... |
OMIM:256810 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Osteopenia, Nephrocalcinosis, Restrictive cardiomyopathy, Abnormality of the ... |
ORPHA:369837 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Arterial dissection, Recurrent pneumonia, Aortic dissection, Abnormal venous morphology, Aortic a... |
ORPHA:1900 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Contractures of the large joints, Nasogastric tube feeding, Respiratory distress, Pol... |
ORPHA:329178 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Diarrhea, Vomiting, Methylmalonic aciduria, Stage 5 chronic kidney disease, Hyperglycinemia, Hype... |
OMIM:251000 |
| Developmental And Epileptic Encephalopathy 18 |
|
Polyhydramnios, Aortic regurgitation, Oligohydramnios |
OMIM:615476 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary 3-hydroxybutyric acid, Methylma... |
OMIM:614105 |
| 15q26 overgrowth syndrome |
|
Renal agenesis, Duplication of renal pelvis, Camptodactyly of finger, Abnormal joint morphology, ... |
DECIPHER:81 |
| Periventricular Nodular Heterotopia |
|
Aortic aneurysm, Gastroesophageal reflux, Patent ductus arteriosus |
ORPHA:98892 |
| Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Renal insufficiency, Gout, Hyperuricemia, Hyperuricosuria, Arthritis, Uric a... |
ORPHA:411543 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Pfapa Syndrome |
|
Malabsorption, Nausea and vomiting, Splenomegaly, Weight loss, Hepatomegaly, Abdominal pain |
ORPHA:42642 |
| Lcat Deficiency |
|
Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glomerular filtration rat... |
ORPHA:650 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Congestive heart failure, Pallor, Splenomegaly, Tachycardia |
ORPHA:90037 |
| Kearns-Sayre Syndrome |
|
Cardiomyopathy, Primary adrenal insufficiency, Renal tubular acidosis, Ragged-red muscle fibers, ... |
OMIM:530000 |
| Mitochondrial Dna Depletion Syndrome 17 |
|
Hepatic failure, Low plasma citrulline, Hyperammonemia |
OMIM:618567 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Prominent fingertip pads, Abnormal heart morphology, Overlapping toe, Oligohydramnios, Increased ... |
OMIM:618494 |
| Rhabdoid Tumor |
|
Nausea and vomiting, Hematuria, Neoplasm of the liver, Weight loss, Renal neoplasm, Abdominal pai... |
ORPHA:69077 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Feeding difficulties, Death in infancy |
OMIM:616341 |
| Hydrocephalus, Congenital, 4 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| 1Q21.1 Microduplication Syndrome |
|
Hypospadias, Hydrocephalus |
ORPHA:250994 |
| Xanthinuria, Type I |
|
Hypouricemia, Reduced circulating xanthine oxidase activity, Pyelonephritis, Xanthine nephrolithi... |
OMIM:278300 |
| Chromosome 5Q12 Deletion Syndrome |
|
Hypotension, Increased nuchal translucency, Patent foramen ovale, Ventricular septal defect, Long... |
OMIM:615668 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Clinodactyly of the 2nd finger, Ventricular septal defect, Atrial septal defect, Diaphyseal under... |
OMIM:620663 |
| Atresia Of Urethra |
|
Hydroureter, Megacystis, Recurrent urinary tract infections, Ascites, Bladder fistula, Oligohydra... |
ORPHA:105 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Nephrocalcinosis, Kyphoscoliosis, Joint contracture, Polyhydramnios, Recurrent lower ... |
OMIM:618005 |
| Congenital Myopathy 22A, Classic |
|
Knee contracture, Normal pressure hydrocephalus, Hip contracture, Thoracic scoliosis, Neonatal de... |
OMIM:620351 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Macroglossia, Respiratory distress, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urina... |
ORPHA:505248 |
| Combined Oxidative Phosphorylation Deficiency 57 |
|
Central hypoventilation, Apnea, Death in infancy, Neonatal death, Nonimmune hydrops fetalis, Feta... |
OMIM:620167 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Hepatos... |
ORPHA:93352 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... |
OMIM:120330 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
| Acromicric Dysplasia |
|
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Ovoid vertebral bodies, Short long bone... |
OMIM:102370 |
| Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Oligohydramnios, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:260370 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria, Dehydration, Neonatal death |
OMIM:602199 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Anisospondyly, Occipital encephalocele, Pterygium, Cryptorchidism, Neonatal death, Single umbilic... |
OMIM:224410 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal hypoplasia, Lobulated tongue, Unicoronal synostosis, Hamartoma of tongue, Cryptorchidism, E... |
OMIM:616300 |
| Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... |
OMIM:609583 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Slender finger, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th fi... |
OMIM:620393 |
| Congenital Myopathy 17 |
|
Renal hypoplasia, Ureteropelvic junction obstruction, Respiratory tract infection, Hydronephrosis... |
OMIM:618975 |
| Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, W... |
ORPHA:26790 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... |
OMIM:612949 |
| Cystinuria |
|
Hematuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis |
ORPHA:214 |
| Fragile X Syndrome |
|
Gastroesophageal reflux, Otitis media, Sinusitis, Macroorchidism, Chronic otitis media, Ascending... |
ORPHA:908 |
| Evans Syndrome |
|
Epistaxis, Pallor, Petechiae, Syncope, Jaundice |
ORPHA:1959 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Short neck, Atrial septal defect, Scolios... |
OMIM:615279 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Weight loss, Splenomegaly, Anorexia |
ORPHA:86893 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Beta-aminoisobutyric aciduria, Polyhydramnios, High palate, Arthrogryposis multiplex congenita, F... |
OMIM:615330 |
| Hypochondroplasia |
|
Flared metaphysis, Lumbar hyperlordosis, Limited elbow extension, Trident hand, Brachydactyly, Sh... |
OMIM:146000 |
| Adams-Oliver Syndrome 5 |
|
Splenomegaly, Patent foramen ovale, Right atrial enlargement, Right ventricular hypertrophy, Pulm... |
OMIM:616028 |
| Hec Syndrome |
|
Polyhydramnios, Arrhythmia, Cardiomyopathy, Premature birth |
ORPHA:2119 |
| Noonan Syndrome With Multiple Lentigines |
|
Webbed neck, Cryptorchidism, Abnormality of the pulmonary artery, Spina bifida occulta, Abnormal ... |
ORPHA:500 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Axillary pterygium, Intractable diarrhea, Congenital pyloric atresia, Death in infancy, Urethrove... |
OMIM:226730 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
| Alg8-Cdg |
|
Ascites, Oligohydramnios, Brachydactyly, Camptodactyly, Hydrops fetalis, Edema, Premature birth |
ORPHA:79325 |
| Townes-Brocks Syndrome 2 |
|
Scoliosis, Crossed fused renal ectopia, Vesicoureteral reflux, Spina bifida occulta, Anal atresia... |
OMIM:617466 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hypospadias, Lateral ventricle dilatation |
OMIM:617751 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... |
ORPHA:2634 |
| Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular septal defect, P... |
OMIM:615355 |
| Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
| Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Abdominal... |
OMIM:167800 |
| Acromesomelic Dysplasia 4 |
|
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... |
OMIM:619636 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Microphthalmia, Syndromic 9 |
|
Renal hypoplasia, Agenesis of pulmonary vessels, Multilobulated spleen, Horseshoe kidney, Alveola... |
OMIM:601186 |
| Multiple Osteochondromas |
|
Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the long bones, Abnor... |
ORPHA:321 |
| Doors Syndrome |
|
Aspiration pneumonia, Adrenal hyperplasia, Lumbar scoliosis, High palate, Gastroesophageal reflux... |
ORPHA:79500 |
| Lethal Faciocardiomelic Dysplasia |
|
Hypoplastic left heart, Short 5th finger, Sandal gap, Short tibia, Short thumb, Radial club hand,... |
ORPHA:1972 |
| Alg3-Cdg |
|
Osteopenia, Decreased liver function, Feeding difficulties, Macroglossia, High palate, Arthrogryp... |
ORPHA:79321 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Genu valgum, Mitral regurgitation, Mitral valve prolapse, Thoracolumbar sco... |
ORPHA:230851 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Lumbar platyspondyly, Coarse metaphyseal trabecularization, Thoracic platyspondyly, Increased int... |
OMIM:618961 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Chronic kidney disease, Lymphedema, Renal insufficiency, Abnormal renal glomerulus morphology, No... |
OMIM:137940 |
| Ichthyosis Prematurity Syndrome |
|
Polyhydramnios, Caseous vernix-like desquamation, Premature birth |
OMIM:608649 |
| Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
| Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Gastroesophageal reflux, Vesicoureteral reflux, Hydronephrosis, Bladder trabeculat... |
OMIM:614080 |
| Hemochromatosis, Type 3 |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... |
OMIM:604250 |
| Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia |
|
Primary hyperparathyroidism |
OMIM:600166 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec... |
OMIM:603387 |
| Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Pulmonary artery hypoplasia, Prominent fingertip pads, Broad hall... |
OMIM:300963 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Tachyca... |
OMIM:613870 |
| Lymphatic Malformation 6 |
|
Facial edema, Webbed neck, Generalized edema, Gastroesophageal reflux, Chylothorax, Lymphedema, A... |
OMIM:616843 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Cardiomyopathy, Renal insufficiency, Hyperammonemia, Pancreatitis, Hepatomegaly |
ORPHA:27 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Fetal distress, Polyhydramnios, Neonatal death, Hepatomegaly, Feeding difficulties in infancy, Mi... |
OMIM:618810 |
| Megalencephaly |
|
Short neck, Genu valgum, Atrial septal defect |
ORPHA:2477 |
| 14Q11.2 Microdeletion Syndrome |
|
Toe clinodactyly, Toe syndactyly, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
| Codas Syndrome |
|
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology... |
ORPHA:1458 |
| Macs Syndrome |
|
Dilation of Virchow-Robin spaces, Recurrent aphthous stomatitis, Cryptorchidism, Decreased body w... |
OMIM:613075 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Vesicoureteral reflux, Lateral ventricle dilatation, Dandy-Walker malfo... |
ORPHA:3078 |
| Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior... |
ORPHA:244 |
| Codas Syndrome |
|
Congenital hip dislocation, Absent epiphyses, Scoliosis, Hypoplasia of the odontoid process, Dela... |
OMIM:600373 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Fetal pericardial effusion, Second degree atrioventricular block, Ascites, Oligohydramnios, Nonim... |
OMIM:617021 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Splenome... |
OMIM:266200 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Splenomegaly, Weight loss, Hepatomegaly |
ORPHA:100024 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Dilatation of the renal pelvis, Dilatation of the bladder, ... |
OMIM:265380 |
| Williams Syndrome |
|
Synostosis of joints, Death in early adulthood, Genu valgum, Cryptorchidism, Nausea and vomiting,... |
ORPHA:904 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... |
OMIM:300106 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation |
OMIM:615716 |
| Mastocytosis, Cutaneous |
|
Telangiectasia macularis eruptiva perstans, Edema |
OMIM:154800 |
| Familial Mediterranean Fever |
|
Nephropathy, Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdomi... |
ORPHA:342 |
| Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Subchorionic septal cyst, Large placenta, Cryptorchidism, Hepatoblastoma, Feeding di... |
ORPHA:116 |
| Phocomelia, Schinzel Type |
|
Finger aplasia, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia involving the pelvis, Abnormal ti... |
ORPHA:2879 |
| Myh9-Related Disease |
|
Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Renal insufficie... |
ORPHA:182050 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Distal renal tubular acidosis, Recurrent fractures, Hypocalcemia, Renal tubular acidosis, Elevate... |
ORPHA:2785 |
| Pituitary Gigantism |
|
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... |
ORPHA:99725 |
| Distal Renal Tubular Acidosis |
|
Diarrhea, Osteomalacia, Renal potassium wasting, Aminoaciduria, Rickets, Increased susceptibility... |
ORPHA:18 |
| Temtamy Syndrome |
|
Aortic aneurysm |
ORPHA:1777 |
| Congenital Hydrocephalus |
|
Ventriculomegaly, Colpocephaly, Hydrocephalus |
ORPHA:2185 |
| Limb Body Wall Complex |
|
Progressive congenital scoliosis, Broad hallux, Abnormality of the vertebral column, Amniotic con... |
ORPHA:2369 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Decreased skull ossification, Congenital hypoparathyroidism, C... |
ORPHA:93324 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced erythrocyte hexokinase a... |
OMIM:235700 |
| Generalized Arterial Calcification Of Infancy |
|
Nephrocalcinosis, Vomiting, Aortic dissection, Cortical nephrocalcinosis, Failure to thrive in in... |
ORPHA:51608 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:1802 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Postnatal growth retardation, Vesicoureteral reflux, Nephrolithiasis, Vascular dilat... |
OMIM:617219 |
| Urofacial Syndrome 2 |
|
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... |
OMIM:615112 |
| Fraser Syndrome 2 |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... |
OMIM:617666 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Short thumb, Fetal distress, Horseshoe kidney, Vesicoureteral reflux, Triphalangeal t... |
OMIM:612562 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Oliguria, Hyperphosphatemia, Proximal muscle weakness in upper limbs, Lower ... |
ORPHA:99845 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Limitation of joint mobility, Camptodactyly of finger, Abnormal pleura morpholog... |
ORPHA:2570 |
| Retinitis Pigmentosa 59 |
|
Hepatomegaly, Micropenis, Renal insufficiency, Cryptorchidism |
OMIM:613861 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Gastroesophageal reflux, Vomiting, Abnormal pulmonary interstitial morphology, Atelectasis, Chole... |
OMIM:620233 |
| Thyroid Hypoplasia |
|
Growth delay, Constipation, Abdominal distention, Short stature, Jaundice, Thyroid hypoplasia |
ORPHA:95720 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Mitral regurgitation, Ventricular septal defect, Arachnodactyly, Talipes eq... |
OMIM:301039 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Dilated c... |
OMIM:616730 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... |
ORPHA:93346 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Toe clinodactyly, Secundum atrial septal defect, Aortic root aneurysm, Clinodactyly of the 5th fi... |
OMIM:619910 |
| Martsolf Syndrome 1 |
|
Broad femoral neck, Short toe, Cardiomyopathy, Congestive heart failure, Slender ulna, Avascular ... |
OMIM:212720 |
| 3P25.3 Microdeletion Syndrome |
|
Acromesomelia, Broad thumb, Skeletal muscle atrophy, Broad hallux, Scoliosis, Sacral dimple, Over... |
ORPHA:435638 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Dilated cardiomyopathy, Congestive heart failure, Cholestasis, Arrhythmia, Myoglobinuria, Hydrops... |
OMIM:609015 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Decreased liver function |
ORPHA:512260 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Overlapping toe, Ventricular septal defect, Atrial septal defect, Clinodactyly of the 5th finger,... |
OMIM:618974 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation |
ORPHA:284417 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency, Rhabdomyolysis |
OMIM:255110 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Mesangial hypercellularity, Tac... |
OMIM:616414 |
| Bent Bone Dysplasia Syndrome 2 |
|
Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing,... |
OMIM:620076 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Limited... |
OMIM:614078 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Enuresis, Diarrhea, Gastroesophageal reflux, Encopresis, Decreased fetal movement, Constipation, ... |
ORPHA:589821 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
| Simple Cryoglobulinemia |
|
Nephritis, Vasculitis, Gastrointestinal hemorrhage, Renal insufficiency, Mesangial hypercellulari... |
ORPHA:91139 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Recurrent upper respiratory tract infections, Hematochezia, Secretory... |
OMIM:618183 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, P... |
OMIM:618349 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa... |
ORPHA:1856 |
| Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... |
OMIM:620247 |
| Abruzzo-Erickson Syndrome |
|
Ulnar deviation of finger, Toe syndactyly, Short toe, Radioulnar synostosis, Atrial septal defect... |
ORPHA:921 |
| Renal Agenesis, Bilateral |
|
Renal agenesis, Fetal polyuria, Oligohydramnios, Sirenomelia, Abnormal intestine morphology, Trac... |
ORPHA:1848 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Pulmonary hypoplasia |
OMIM:618174 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Increased ... |
OMIM:619377 |
| Hinman Syndrome |
|
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... |
ORPHA:84085 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Hydron... |
ORPHA:210122 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Respiratory distress, Feeding ... |
OMIM:607143 |
| Meckel Syndrome, Type 1 |
|
Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Abnormality of the ureter, Lar... |
OMIM:249000 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal pelvic girdle bone morphology, Punctate vertebral calcifications, Stippled calcification... |
OMIM:302960 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Chronic Hiccup |
|
Weight loss, Malnutrition |
ORPHA:396 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Hypernatremic dehydration,... |
ORPHA:223 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... |
OMIM:605814 |
| Opsismodysplasia |
|
Renal phosphate wasting, Metaphyseal cupping, Hypoplasia of the odontoid process, Edema, Oligohyd... |
OMIM:258480 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Decreased response to growth hormone stimulation test, ... |
OMIM:241410 |
| Phelan-Mcdermid Syndrome |
|
Lymphedema, Palpebral edema, Vesicoureteral reflux, Joint hypermobility, 2-3 toe syndactyly, Abno... |
OMIM:606232 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Pulmonary hypoplasia, Arthrogryposis multiplex congenita, Oligohydramnios, Decreased fetal moveme... |
OMIM:616866 |
| Intellectual Disability-Strabismus Syndrome |
|
Joint contracture of the hand, Gastroesophageal reflux, Limitation of joint mobility, Decreased r... |
ORPHA:363528 |
| Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Sandal gap, Ventricular septal defect, Bicuspid aortic valve, Double outlet... |
OMIM:616652 |
| Joubert Syndrome 21 |
|
Occipital encephalocele, Hyperechogenic kidneys, Apnea, Splenomegaly, Encephalocele, Renal cyst, ... |
OMIM:615636 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isomerase level, Splenomegaly, Cho... |
OMIM:613470 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Renal cyst, Multicystic kidney dysplasia, Glossoptosis, Congenital hepatic fibrosis |
ORPHA:2031 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hallux, Ventricul... |
OMIM:600987 |
| Ogden Syndrome |
|
Diarrhea, Delayed cranial suture closure, Cryptorchidism, Pulmonary edema, Short neck, Jaundice, ... |
OMIM:300855 |
| Peters Plus Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Renal hypoplasia/aplasia, Short neck, Feeding diffi... |
ORPHA:709 |
| Liposarcoma |
|
Abdominal pain, Weight loss, Nausea and vomiting, Abnormality of the kidney |
ORPHA:69078 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i... |
OMIM:619773 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Short thumb, Mitral regurgitation, Ventricular septal defect, Brachydactyl... |
ORPHA:3449 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... |
ORPHA:508533 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum |
OMIM:619302 |
| Yellow Fever |
|
Acute kidney injury, Diarrhea, Vomiting, Pancreatic hyperplasia, Anuria, Elevated circulating asp... |
ORPHA:99829 |
| Loeys-Dietz Syndrome 2 |
|
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor... |
OMIM:610168 |
| Atelosteogenesis Type Ii |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Short neck, Broad phalanx, Thorac... |
ORPHA:56304 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Arthro... |
OMIM:254210 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating hepatic transaminase concentration, Diarrhea, Weight loss, Abnormality of th... |
ORPHA:54251 |
| Hirschsprung Disease |
|
Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Nau... |
ORPHA:388 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Renal hypoplasia, Intractable diarrhea, Small for gestational age, Abnormality ... |
ORPHA:84064 |
| Complement Factor I Deficiency |
|
Vasculitis, Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal ins... |
OMIM:610984 |
| Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:208447 |
| Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Ureterocele, Decreased liver function |
OMIM:614863 |
| Femoral-Facial Syndrome |
|
Toe syndactyly, Humeroradial synostosis, Cryptorchidism, Limited elbow movement, Encephalocele, R... |
OMIM:134780 |
| Mucolipidosis Type Iii Alpha/Beta |
|
Oligosacchariduria, Keratan sulfate excretion in urine, Diastasis recti, Flexion contracture, Rig... |
ORPHA:423461 |
| Gaucher Disease |
|
Hematuria, Feeding difficulties in infancy, Cirrhosis, Hepatomegaly, Abdominal pain, Dysphagia, I... |
ORPHA:355 |
| Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Palmoplantar cutis laxa, Atrial septal defect, Pulmonic stenosis |
OMIM:618499 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatomega... |
OMIM:194380 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Delayed cranial suture closure, Respiratory distress, Median cleft palate, Short neck, Dyspnea |
ORPHA:1832 |
| Duane Retraction Syndrome |
|
Webbed neck, Abnormal form of the vertebral bodies, Preaxial hand polydactyly, Aplasia/Hypoplasia... |
ORPHA:233 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Clinodactyly of the 5th finger, Rocker bottom foot, Delayed eruption of permanent teeth, Ventricu... |
OMIM:618506 |
| Glutaric Acidemia I |
|
Hydrocephalus, Glutaric aciduria, Ketonuria, Lateral ventricle dilatation |
OMIM:231670 |
| Dysosteosclerosis |
|
Platyspondyly, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Ventricular septa... |
ORPHA:1782 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive, Eczematoid ... |
OMIM:212750 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Dilated cardiomyopathy, Quadriceps muscle weakness, Goiter, Shoulder girdle muscle weakness, Limb... |
ORPHA:254892 |
| Rubinstein-Taybi Syndrome 1 |
|
Delayed cranial suture closure, Cryptorchidism, Feeding difficulties in infancy, Patellar disloca... |
OMIM:180849 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased fetal movement, Neonatal death, 2-3 toe syndactyly, Polyhydramnios, Limb joint contract... |
OMIM:618186 |
| Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Acute kidney injury |
ORPHA:2134 |
| Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Webbed neck, Joint contracture of the hand, Short neck, Micropenis, Camptodactyly, Spina bifida o... |
OMIM:611929 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Renal hypoplasia, Lateral ventricle dilatation, Pulmonic stenosis |
OMIM:618914 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Rickets, Glycosuria, Hyperphosphaturia, Proteinuri... |
OMIM:616026 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Hepatomegaly, Organic aciduria |
OMIM:614741 |
| Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Ventricular septal defect, Postaxial ... |
OMIM:618142 |
| Peroxisome Biogenesis Disorder 6B |
|
Prolonged neonatal jaundice, Elevated circulating phytanic acid concentration, Decreased liver fu... |
OMIM:614871 |
| Pentalogy Of Cantrell |
|
Renal agenesis, Polysplenia, Absent gallbladder, Encephalocele, Anencephaly, Hydrocephalus, Scoli... |
ORPHA:1335 |
| Asparagine Synthetase Deficiency |
|
Ventriculomegaly, Dilated fourth ventricle, Dilated third ventricle |
OMIM:615574 |
| Leopard Syndrome 1 |
|
Unilateral renal agenesis, Webbed neck, Cryptorchidism, Aplasia of the ovary, Limited elbow movem... |
OMIM:151100 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hepatomegaly, Pallor, Hypertrophic cardiomyopathy |
OMIM:613561 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Ovarian serous cystadenoma, Multiple lipomas, Enlarged kidney, Nephroblastoma |
ORPHA:276280 |
| Aapoaiv Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli... |
ORPHA:439232 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Cachexia, Abdominal distention |
ORPHA:1876 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Portal hypertension, Splenomegaly, Chronic hepatic ... |
ORPHA:465508 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... |
OMIM:613237 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid... |
ORPHA:567548 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy, Spontaneous pneumothorax, Lymphedema, Polyhydramnios, Hydrocele testi... |
OMIM:618154 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Arrhythmia, ... |
OMIM:250220 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Hydr... |
ORPHA:79404 |
| Cardiomyopathy, Dilated, 2H |
|
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... |
OMIM:620203 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Mitral regurgitation, Ventri... |
OMIM:271640 |
| Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Tachypnea, Dyspnea, Abnormal pulmon... |
ORPHA:178320 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Short 5th finger, Rhizomelia, Short thumb, Prominent fingertip pads, Patent foramen ovale, Single... |
OMIM:618821 |
| Propionic Acidemia |
|
Hepatomegaly, Organic aciduria, Hyperammonemia, Cardiomyopathy |
ORPHA:35 |
| Nephronophthisis 11 |
|
Hepatic fibrosis, Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kid... |
OMIM:613550 |
| Trisomy X |
|
Multicystic kidney dysplasia, Premature ovarian insufficiency, Renal hypoplasia/aplasia, Constipa... |
ORPHA:3375 |
| Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Chronic kidney disease, Cardiomyopathy, Renal tubular acidosis, 3-Methylglutaconic aciduria, Elev... |
ORPHA:324525 |
| Granulomatous Slack Skin |
|
Acute kidney injury, Hypercalcemia, Nephrocalcinosis |
ORPHA:33111 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain |
OMIM:191390 |
| Timothy Syndrome |
|
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... |
OMIM:601005 |
| Mucopolysaccharidosis, Type X |
|
Aortic valve stenosis, Thickened aortic valve cusp, Nephrolithiasis, Left ventricular hypertrophy... |
OMIM:619698 |
| Alport Syndrome 2, Autosomal Recessive |
|
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... |
OMIM:203780 |
| Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Bilateral cryptorchidism, Intrauterine growth retardation, St... |
OMIM:242900 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
| Mgat2-Cdg |
|
Osteopenia, Gastroesophageal reflux, Respiratory distress, Gastroparesis, Gastrostomy tube feedin... |
ORPHA:79329 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Renal hypoplasia, Abnormal pelvis bone ossification, Absent or minimally ossified vertebral bodie... |
ORPHA:93271 |
| 8Q12 Microduplication Syndrome |
|
Short foot, Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
| Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Type 2... |
ORPHA:98915 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
| Kagami-Ogata Syndrome |
|
Pulmonary hypoplasia, Splenomegaly, Kyphoscoliosis, Hepatomegaly, Polyhydramnios, Flexion contrac... |
OMIM:608149 |
| Ileal Neuroendocrine Tumor |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Intestinal fistula, Hyd... |
ORPHA:100078 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting,... |
ORPHA:542323 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hip dislocation, Genu valgum, Delayed pubic bone ossification, Butterfly vertebrae, Thoracic kyph... |
OMIM:613330 |
| Ivic Syndrome |
|
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... |
OMIM:147750 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... |
ORPHA:3384 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria, Acute rha... |
OMIM:268200 |
| 20P12.3 Microdeletion Syndrome |
|
Broad thumb, Atrial septal defect, Broad hallux phalanx, Wolff-Parkinson-White syndrome |
ORPHA:261295 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... |
OMIM:619897 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Gastroesophageal reflux, Elbow contracture, Fetal distress, Umbilical hernia, Knee contracture, D... |
OMIM:620275 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Rickets, Joint dislocation, Osteomalacia, Abnormal joint morphology, Joint stiffness,... |
ORPHA:1901 |
| Bardet-Biedl Syndrome 6 |
|
Renal cyst, Hypospadias |
OMIM:605231 |
| Gaucher Disease Type 3 |
|
Osteolysis, Splenomegaly, Increased susceptibility to fractures, Hematuria, Proteinuria, Hepatome... |
ORPHA:77261 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Congestive heart failure |
OMIM:300886 |
| Restrictive Dermopathy 1 |
|
Neonatal death, Hypospadias, Premature rupture of membranes, Spontaneous chorioamniotic separatio... |
OMIM:275210 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatic steatosis, Cryptorchidism, Cirrhosis, Breech presentation, Abdominal distention, Duplicat... |
OMIM:270400 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Hypotriglyceridemia, Decreased serum creatinine, Constipation, Pineal cyst, Decreased HDL cholest... |
OMIM:618885 |
| Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:614120 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... |
ORPHA:79095 |
| Addison Disease |
|
Adrenal calcification, Hypoparathyroidism, Renal salt wasting, Hyperkalemia, Thymoma, Androgen in... |
ORPHA:85138 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Cardiomegaly, Left atrial enlargem... |
ORPHA:57777 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Multiple small vertebral fractures, Arthralgia of the hip, Abnormality of the epiphyses of the fe... |
ORPHA:93311 |
| Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Bladder polyp, Bile duct polyp, Bloody diarrhea, Abnormality of the ureter, ... |
OMIM:175200 |
| Cardiac Valvular Dysplasia 1 |
|
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... |
OMIM:212093 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent urinary tract infections, Postnatal growth retardation, Splenomegaly, Coarctation of ao... |
OMIM:620210 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Necrotizing Enterocolitis |
|
Diarrhea, Vomiting, Hypoactive bowel sounds, Ascites, Apnea, Peritonitis, Abdominal rigidity, Abd... |
ORPHA:391673 |
| Lymphatic Malformation 13 |
|
Fetal pericardial effusion, Fetal pleural effusion, Lymphedema, Ascites, Mitral regurgitation, No... |
OMIM:620244 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephritis, Gastrointestinal hemorrhage, Malar rash, Splenomegaly, Hepatomegaly, Nephrotic syndrome |
OMIM:603909 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Elevated gamma-glutamyltransferase level, Dilatation of the renal pelvis, Cholestasis, Dark urine... |
OMIM:619534 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis... |
ORPHA:57 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal defect |
OMIM:235750 |
| Carnitine Deficiency, Systemic Primary |
|
Diarrhea, Vomiting, Dicarboxylic aciduria, Respiratory distress, Decreased carnitine level in liv... |
OMIM:212140 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
OMIM:620138 |
| X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation |
ORPHA:85290 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Lumbar hemivertebrae, Bilateral cryptorchidism, Neonatal death, Short neck, Tracheoesophageal fis... |
OMIM:619859 |
| Liddle Syndrome |
|
Hypokalemia, Nephropathy, Renal insufficiency |
ORPHA:526 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Cardiac arrest, Pallor, Congestive heart failure |
ORPHA:49827 |
| Metatropic Dysplasia |
|
Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hypoplastic cervical vert... |
ORPHA:2635 |
| Schinzel-Giedion Syndrome |
|
Abnormality of the ureter, Streak ovary, Radioulnar synostosis, Hepatoblastoma, Short neck, High ... |
ORPHA:798 |
| Hennekam Syndrome |
|
Chylothorax, Lymphedema, Horseshoe kidney, Ascites, Camptodactyly of finger, Malabsorption, Splen... |
ORPHA:2136 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Absence of the sacrum, Atrial reentry tachycardia, Atrio... |
OMIM:270100 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Congenital hip dislocation, Gastroesophageal reflux, Nasal regurgitation, Neuropathic spinal arth... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Congenital hip dislocation, Gastroesophageal reflux, Nasal regurgitation, Neuropathic spinal arth... |
ORPHA:590 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Hypoplastic left heart, Unilateral renal agenesis, Renal hypoplasia, Chronic kidney disease |
OMIM:617661 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Elevated circulating ribitol concentration, Renal cyst, Sebor... |
ORPHA:488618 |
| Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Exocrine pancreatic insufficie... |
OMIM:618268 |
| Brachydactyly Type A1 |
|
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... |
ORPHA:93388 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Renal insufficiency, H... |
ORPHA:445038 |
| Fetal Akinesia Deformation Sequence 1 |
|
Cryptorchidism, Hip contracture, Short neck, Elbow ankylosis, High palate, High, narrow palate, S... |
OMIM:208150 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... |
OMIM:614470 |
| Peroxisome Biogenesis Disorder 5B |
|
Elevated circulating phytanic acid concentration, Decreased liver function |
OMIM:614867 |
| Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Lymphedema, Crypto... |
ORPHA:3144 |
| Diencephalic Syndrome |
|
Long penis, Hydrocephalus |
ORPHA:1672 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Fetal polyuria, Decreased glomerular filtration rate, Renal ins... |
OMIM:613090 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Shallow acetabular fossae, Congenital contracture, Sandal gap, Patellar hypoplasia, Abnormal epip... |
ORPHA:261279 |
| Fliedner-Zweier Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Tethered cord, Joint hypermobility, Hydr... |
OMIM:620511 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Renal hypoplasia, Hydrocephalus, Stillbirth |
OMIM:276950 |
| Mogs-Cdg |
|
Generalized edema, Nasogastric tube feeding, Respiratory distress, Hepatosplenomegaly, Apnea, Hyp... |
ORPHA:79330 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome |
|
Dilatation of the renal pelvis, Left ventricular hypertrophy, Reduced bone mineral density, Atria... |
OMIM:620510 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Skin ulcer, Hypertrophic cardiomyopathy, Pallor, Splenomegaly, Hepatom... |
ORPHA:848 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Knee dislocation, Small epiphyses, Joint hyper... |
OMIM:620269 |
| Cardiospondylocarpofacial Syndrome |
|
Synostosis of carpal bones, Failure of eruption of permanent teeth, Abnormal form of the vertebra... |
ORPHA:3238 |
| Hereditary Spherocytosis |
|
Cholelithiasis, Gout, Splenomegaly, Abdominal pain, Abdominal distention, Hepatomegaly, Jaundice,... |
ORPHA:822 |
| Cardiomyopathy, Dilated, 2J |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... |
OMIM:620635 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Nephrocalcinosis, Adrenal insufficie... |
OMIM:240300 |
| Pagod Syndrome |
|
Multicystic kidney dysplasia, Pulmonary artery hypoplasia, Abnormality of the spleen, Encephaloce... |
ORPHA:991 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Abnormal femoral torsion, Tibial torsion, Long hallux, Bifid ureter... |
ORPHA:500095 |
| 2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Supernumerary nipple, Camptodactyly of finger, Decreased testicular... |
ORPHA:261349 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Respiratory distress, Feeding difficulties, Hepatic steatosis, 3-Methylgluta... |
OMIM:616271 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
| Stuve-Wiedemann Syndrome 1 |
|
Short neck, Dysphagia, Ovoid vertebral bodies, Knee flexion contracture, Contracture of the proxi... |
OMIM:601559 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Kyphosis, Contracture of the proximal interphalangeal joint of the 3rd finger, Short neck, Double... |
OMIM:618223 |
| X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Hypomimic face |
ORPHA:93952 |
| Cenani-Lenz Syndactyly Syndrome |
|
Broad hallux, Radioulnar synostosis, Pulmonic stenosis, Hypoplasia of the radius, Hypoplasia of t... |
OMIM:212780 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypoplasia of the musculature, Dilated cardiomyopathy, Hypopitui... |
ORPHA:231226 |
| Maternal Phenylketonuria |
|
Hypoplastic left heart, Clinodactyly, Tetralogy of Fallot, Abnormal heart morphology, Ventricular... |
ORPHA:2209 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:619301 |
| Baller-Gerold Syndrome |
|
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Patellar aplasia, ... |
OMIM:218600 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... |
ORPHA:2326 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Polyhydramnios, Short neck, Hypoparathyroidism, Palpebral edema, Fetal pyel... |
ORPHA:50810 |
| X-Linked Sideroblastic Anemia |
|
Pallor, Splenomegaly |
ORPHA:75563 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Cryptorchidism, Death in childhood, Micropenis, Feeding difficulties |
OMIM:615597 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Renal hypoplasia, Microphallus, Placental abruption, Decreased response to growth horm... |
OMIM:603467 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Dicarbo... |
OMIM:614887 |
| Typical Nemaline Myopathy |
|
Kyphosis, Genu valgum, Short neck, Hyperlordosis, Genu varum, Polyhydramnios, Flexion contracture... |
ORPHA:171436 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Feeding difficulties in infancy, Apneic episodes precipitated by illness, f... |
OMIM:605809 |
| Mesangial sclerosis, diffuse renal, with ocular abnormalities |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency |
OMIM:249660 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Focal segmental glomerulosclerosis, Hepatic failure, Elevated circulating creatine kinase concent... |
OMIM:607426 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Facial palsy, Abnormal cortical bone morphology, Increased bone minera... |
ORPHA:3152 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Respiratory distress, Decreased fetal movement, Feeding difficulties in infancy, ... |
OMIM:160900 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
| Cockayne Syndrome Type 1 |
|
Male hypogonadism, Diarrhea, Failure to thrive, Postnatal growth retardation, Renal insufficiency... |
ORPHA:90321 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Increased nuchal translucency, Polyhydramnios, Unilateral cryptorchidism, High palate, Feeding di... |
OMIM:618862 |
| Lethal Congenital Contracture Syndrome 5 |
|
Polyhydramnios, Retinal hemorrhage, Subdural hemorrhage, Decreased fetal movement |
OMIM:615368 |
| Citrullinemia Type I |
|
Hepatic failure, Vomiting, Gastroesophageal reflux, Hyperammonemia, Elevated plasma citrulline, F... |
ORPHA:247525 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Premature birth, Cardiomyopathy, Nonimmune hydrops fetalis |
OMIM:618839 |
| Congenital Tracheal Stenosis |
|
Fetal ascites, 5-minute APGAR score of 3, Meckel diverticulum, Duodenal atresia, Abnormal lung lo... |
ORPHA:141127 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Vascular dilatation, Varicose veins |
OMIM:618343 |
| Coffin-Siris Syndrome 7 |
|
Oligohydramnios, Sagittal craniosynostosis, Brachydactyly, Single umbilical artery, Polyhydramnio... |
OMIM:618027 |
| Meier-Gorlin Syndrome 7 |
|
Cryptorchidism, Aplasia/Hypoplasia of the patella, Urethral stricture, Dislocated radial head, An... |
OMIM:617063 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosi... |
OMIM:602557 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Peripheral pulmonary artery stenosis, Clubbing of toes, Tetralogy of Fallot, Overlapping toe, Oli... |
ORPHA:163956 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| Biemond Syndrome Type 2 |
|
Hypospadias, Hydrocephalus |
ORPHA:141333 |
| Glycogen Storage Disease Xii |
|
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Ch... |
OMIM:611881 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Shoulder girdle muscle weakness, Patent foramen ovale, Myopathy, Hyperlordosis, Pelvic girdle mus... |
OMIM:615156 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Neonatal death, Premature birth, Nonimmune hydrops fetalis |
OMIM:618835 |
| Bohring-Opitz Syndrome |
|
Gastroesophageal reflux, Joint dislocation, Supernumerary nipple, Intestinal malrotation, Disloca... |
OMIM:605039 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid cardiomyopathy, Agenesis of co... |
OMIM:300952 |
| Malan Overgrowth Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation |
ORPHA:420179 |
| 3C Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Finger syndactyly, Tetralogy of Fallot, Atrioventr... |
ORPHA:7 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
| Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Clinodactyly, Partial duplication of thumb phalanx, Single transverse pal... |
OMIM:618348 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical... |
OMIM:214300 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges... |
ORPHA:276621 |
| Keutel Syndrome |
|
Short distal phalanx of finger, Calcification of cartilage, Ventricular septal defect, Pulmonary ... |
ORPHA:85202 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... |
ORPHA:656 |
| Ovarian Fibrothecoma |
|
Ascites, Abnormality of the ovary, Pleural effusion, Ovarian fibroma, Peritonitis, Abdominal dist... |
ORPHA:314478 |
| Klatskin Tumor |
|
Abdominal pain, Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis |
ORPHA:99978 |
| Meester-Loeys Syndrome |
|
Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Dilatation of the cerebral ar... |
OMIM:300989 |
| Microcephaly-Micromelia Syndrome |
|
Oligohydramnios, Humeroradial synostosis, Neonatal death, Short neck, Aqueductal stenosis, Cranio... |
OMIM:251230 |
| Chitayat Syndrome |
|
Tracheomalacia, Respiratory distress, Polyhydramnios, Abnormal pulmonary interstitial morphology,... |
OMIM:617180 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Anorexia, Elevated carcinoma antigen 125 level, Nausea and vomiting, Episodic abdominal pain, Wei... |
ORPHA:370348 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... |
OMIM:114290 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, Abnormal aortic morphology, Bilateral single transverse palmar cr... |
ORPHA:2516 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Broad thumb, Overlapping toe, Ventricular septal defect, Down-sloping shoulders, Talipes equinova... |
OMIM:617452 |
| Allan-Herndon-Dudley Syndrome |
|
Cryptorchidism, Decreased fetal movement, Kyphoscoliosis, Prolonged neonatal jaundice, Ankle clon... |
ORPHA:59 |
| Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Diarrhea, Intestinal obstruction, Crohn's disease, Weight lo... |
OMIM:266600 |
| Neu-Laxova Syndrome |
|
Bifid uvula, Osteopenia, Rickets, Osteomalacia, Pterygium, Submucous cleft hard palate, Decreased... |
ORPHA:2671 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Joint contracture of the hand, Chylothorax, Nasogastric tube feeding, Respiratory distress, Knee ... |
OMIM:620278 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus |
OMIM:304100 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Oligosacchariduria, Hypertrophic cardiomyopathy, Facial hypotonia, Elevated circulating creatine ... |
ORPHA:308552 |
| Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Polyhydramnios |
OMIM:614306 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Osteomalacia, Camptodactyly of finger, Lymphedema, Joint stiffness, Increased suscept... |
ORPHA:2176 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Bloody di... |
OMIM:243150 |
| Phace Association |
|
Arterial stenosis, Lingual thyroid, Coarctation of aorta, Aortic aneurysm, Anomalous branches of ... |
OMIM:606519 |
| Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral regurgitatio... |
OMIM:616564 |
| Late-Onset Isolated Acth Deficiency |
|
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotropin deficient adrena... |
ORPHA:199299 |
| Incontinentia Pigmenti |
|
Deviation of finger, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Umbilical ... |
ORPHA:464 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu... |
OMIM:612946 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Skeletal muscle atrophy, Abnormal cortical bone morphology, Hyperhidrosis, R... |
ORPHA:970 |
| Marfan Syndrome |
|
Arterial dissection, Aortic root aneurysm, Aortic dissection, Pulmonary artery dilatation, Slende... |
ORPHA:558 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Right ventricular hypertrophy |
ORPHA:217563 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Palpitations, Pallor, Syncope, Hepatomegaly, Tachycardia |
ORPHA:324575 |
| Otopalatodigital Syndrome Type 2 |
|
Scoliosis, Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Camptodactyly of fin... |
ORPHA:90652 |
| Ppoma |
|
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... |
ORPHA:97278 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Broad thumb, Toe syndactyly, Overlapping toe, Ventricular septal defect, Arachnodactyly, Talipes ... |
ORPHA:505237 |
| Reni Syndrome |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogo... |
OMIM:617575 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Currarino Syndrome |
|
Anal stenosis, Absence of the sacrum, Abdominal distention, Recurrent urinary tract infections, H... |
OMIM:176450 |
| Nephroblastoma |
|
Nephroblastoma, Hematuria, Neoplasm of the liver, Weight loss, Abdominal pain |
ORPHA:654 |
| Kleefstra Syndrome |
|
Gastroesophageal reflux, Limitation of joint mobility, Tracheomalacia, Supernumerary nipple, Rena... |
ORPHA:261494 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Polyhydramnios, Micropenis, Lateral ventricle dilatation |
OMIM:619847 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... |
OMIM:248250 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Decreased skull ossification, Intestinal malrotation, Pulmonary hypoplasia |
OMIM:601163 |
| Alstrom Syndrome |
|
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Decrease... |
OMIM:203800 |
| Aorto-Ventricular Tunnel |
|
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... |
ORPHA:3400 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Vipoma |
|
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ... |
ORPHA:97282 |
| Cardiofaciocutaneous Syndrome |
|
Palmoplantar keratoderma, Lymphedema, Hypertrophic cardiomyopathy, Abnormal heart valve morpholog... |
ORPHA:1340 |
| Osteogenesis Imperfecta |
|
Arterial dissection, Rhizomelia, Aortic root aneurysm, Aortic dissection, Intrauterine growth ret... |
ORPHA:666 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary artery atresi... |
ORPHA:99050 |
| Acute Intermittent Porphyria |
|
Diarrhea, Urinary retention, Pseudobulbar paralysis, Dark urine, Increased urinary porphobilinoge... |
ORPHA:79276 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Pallor, Isothenuria |
OMIM:611590 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Scoliosis, Knee dislocation, Small epiphyses, Genu valgum, Hip contracture, Joint hypermobility, ... |
OMIM:618363 |
| Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Limb muscle weakness, Shor... |
ORPHA:239 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Abnormality of the liver, Nasogastric tube feeding in infancy, Hepatomegaly... |
ORPHA:254864 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes |
|
Small hand, Clinodactyly, Brachydactyly, Pericardial effusion, Short phalanx of finger, Broad finger |
OMIM:614684 |
| Mosaic Trisomy 16 |
|
Meckel diverticulum, Premature birth, Anteriorly placed anus, Horseshoe kidney, Large placenta, G... |
ORPHA:1708 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Micromelia, Genu valgum, Arachnodactyly, Atrial septal defect |
ORPHA:1035 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... |
ORPHA:485 |
| Endocrine-Cerebroosteodysplasia |
|
Microphallus, Hyperechogenic kidneys, Median cleft palate, Cryptorchidism, Hydrocephalus, Polyhyd... |
OMIM:612651 |
| Medullary Thyroid Carcinoma |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Hyp... |
ORPHA:1332 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Fetal distress, Elbow flexion contracture, Vesicoureteral reflux, P... |
OMIM:300868 |
| Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
| Insulin-Resistance Syndrome Type B |
|
Pneumonia, Nephritis, Hypoalbuminemia, Biliary cirrhosis, Hypotriglyceridemia, Glycosuria, Abnorm... |
ORPHA:2298 |
| Bronchial Neuroendocrine Tumor |
|
Pneumonia, Hepatic failure, Protracted diarrhea, Bowel urgency, Elevated circulating growth hormo... |
ORPHA:97287 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation |
OMIM:617854 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality... |
ORPHA:537 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Slender finger, Broad thumb, Patent foramen ovale, Ventricular septal defect, Single transverse p... |
ORPHA:329224 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Abnormal mesentery morphology, Abnormality of the gallbladder, Cryp... |
ORPHA:2075 |
| Cryohydrocytosis |
|
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185020 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea, Abdominal distention |
ORPHA:79097 |
| Loeys-Dietz Syndrome 3 |
|
Hip osteoarthritis, Aortic dissection, Arterial tortuosity, Tortuous cerebral arteries, Dilatatio... |
OMIM:613795 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Acute kidney injury, Dyspnea, Acute infectious pneumonia |
ORPHA:140896 |
| Jansen-De Vries Syndrome |
|
Small hand, Ventricular septal defect, Bicuspid aortic valve, Brachydactyly, Hyperlordosis, Short... |
OMIM:617450 |
| Grfoma |
|
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... |
ORPHA:97261 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, Wide pubi... |
OMIM:620073 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... |
OMIM:618652 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
| Qazi-Markouizos Syndrome |
|
High, narrow palate, Cryptorchidism, Chronic constipation, Abdominal distention, Delayed ossifica... |
ORPHA:3010 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality... |
ORPHA:36426 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Feeding difficulties in infancy |
ORPHA:238329 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Congenital contracture, Respiratory distress, Death in infancy, High palate, Scoliosis, Feeding d... |
OMIM:615042 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Lateral ventricle dilatation, Glandular hypospadias, Oligohydramnios, Choroid plexus cyst, Abnorm... |
ORPHA:293725 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Peroxisome Biogenesis Disorder 8B |
|
Elevated circulating phytanic acid concentration, Constipation, Dysphagia, Decreased liver function |
OMIM:614877 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Foot oligodactyly, Portal hypertension, Truncus arteriosus, Ventricular ... |
OMIM:616589 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Abdominal distention, Abdominal pain, Dysgerminoma |
ORPHA:206484 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contract... |
ORPHA:1145 |
| Sillence Syndrome |
|
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... |
ORPHA:3168 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone |
ORPHA:564003 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Atrial septal defect, Delayed eru... |
OMIM:619356 |
| Lujan-Fryns Syndrome |
|
Camptodactyly of finger, Arachnodactyly, Brachydactyly, Atrial septal defect, Scoliosis |
ORPHA:776 |
| Cardiac-Urogenital Syndrome |
|
Biventricular hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de... |
OMIM:618280 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Fetal distress, Respiratory distress, Osteomyelitis, Joint swelling, Spl... |
OMIM:612852 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density |
OMIM:241520 |
| Familial Cutaneous Collagenoma |
|
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure |
ORPHA:53296 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ... |
ORPHA:1880 |
| Dysostosis Multiplex, Ain-Naz Type |
|
Hemivertebrae, Abdominal distention, Flat acetabular roof, Scoliosis, Hip dislocation |
OMIM:619345 |
| Ochoa Syndrome |
|
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Cryptorchidism, ... |
ORPHA:2704 |
| Familial Expansile Osteolysis |
|
Pathologic fracture, Hydroxyprolinuria, Osteolysis, Thin bony cortex |
OMIM:174810 |
| Lathosterolosis |
|
Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Eleva... |
OMIM:607330 |
| Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Hypoplasia of the musculature, Dilated cardiomyopathy, Hypopitui... |
ORPHA:231214 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... |
OMIM:613751 |
| Atelosteogenesis Type Iii |
|
Thoracolumbar kyphosis, Absent humerus, Short tibia, Elbow dislocation, Knee dislocation, Short t... |
ORPHA:56305 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Lower limb muscle weakness, Hypocalcemia, Rhabdomyolysis, Skeletal myopathy, Left... |
ORPHA:746 |
| Diamond-Blackfan Anemia 1 |
|
Hypoplastic ilia, Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Absent thumb, Short ... |
OMIM:105650 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Myopathy, Hematuria, Hypophosphatemia, Hepatomegal... |
OMIM:219800 |
| Lessel-Kreienkamp Syndrome |
|
Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Clinodactyly of the 5th finger... |
OMIM:619149 |
| Absence Of The Pulmonary Artery |
|
Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Pulmonary edema, Atrial s... |
ORPHA:980 |
| Seckel Syndrome 10 |
|
Severe short stature, Elevated circulating luteinizing hormone level, Glycosuria, Elevated circul... |
OMIM:617253 |
| Distal Deletion 12Q |
|
Pituitary adenoma, Annular pancreas, Broad hallux, Elbow flexion contracture, Overlapping toe, Cl... |
ORPHA:96149 |
| Roberts-Sc Phocomelia Syndrome |
|
Clinodactyly, Cryptorchidism, Short neck, Abnormal metacarpal morphology, Absent radius, Polycyst... |
OMIM:268300 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Ascites, Lumbar hyperlordos... |
ORPHA:2848 |
| Oculofaciocardiodental Syndrome |
|
Peripheral pulmonary artery stenosis, Short thumb, Delayed eruption of teeth, Genu valgum, Flexio... |
ORPHA:2712 |
| Anti-Glomerular Basement Membrane Disease |
|
Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis |
ORPHA:375 |
| Pseudohypoparathyroidism, Type Ic |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s... |
OMIM:612462 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Lumbar hyper... |
OMIM:619542 |
| Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Generalized osteoporosis, Osteopenia, Elbow flexion contracture, Congenital diaphragmatic hernia,... |
OMIM:245600 |
| Proteinuria, Chronic Benign |
|
Proteinuria, Albuminuria, Renal insufficiency |
OMIM:618884 |
| Neuroendocrine Tumor Of Stomach |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Lack of bowel sounds, M... |
ORPHA:100075 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Congenital hip dislocation, Umbilical hernia, Vertebral hypoplasia, Ep... |
OMIM:308050 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Congenital hip dislocation, Kyphosis, Sacral dimple, Oligohydramnios, Cong... |
OMIM:609029 |
| Pelger-Huet Anomaly |
|
Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal, Foot dorsiflexor weakness, Po... |
OMIM:169400 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... |
ORPHA:209902 |
| Hypocomplementemic Urticarial Vasculitis |
|
Diarrhea, Joint dislocation, Angioedema, Emphysema, Ascites, Pleural effusion, Renal insufficienc... |
ORPHA:36412 |
| Pseudohypoparathyroidism Type 1B |
|
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... |
ORPHA:94089 |
| Schwartz-Jampel Syndrome |
|
Arthrogryposis multiplex congenita, Elbow dislocation, Abnormality of the ureter, Genu valgum, Hi... |
ORPHA:800 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Glandular hypospadias, Cardiomegaly, Pneumothorax, Thickened nuchal skin fo... |
OMIM:620306 |
| Brain-Lung-Thyroid Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Megacystis, Congenital hypothyroi... |
ORPHA:209905 |
| Saccharopinuria |
|
Hyperlysinuria, Hypercystinemia, Hyperammonemia, Hyperlysinemia, Abnormal circulating enzyme conc... |
ORPHA:3124 |
| Waldenström Macroglobulinemia |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, ... |
ORPHA:33226 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Lateral ventricle dilatation, Tricuspid regurgitation, Agenesis of corpus callosum, Persistent fe... |
OMIM:612863 |
| Slc35A2-Cdg |
|
Transient nephrotic syndrome, Abnormal renal morphology, Lateral ventricle dilatation, Dandy-Walk... |
ORPHA:356961 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Fa... |
ORPHA:567546 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Short distal phalanx of finger, Ventricular septal defect |
OMIM:601355 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
2-3 toe cutaneous syndactyly, Hypospadias, Cutaneous syndactyly of toes, Contracture of the proxi... |
OMIM:300998 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphedema, Pallor, Splenomegaly, Hepatomegaly, Intracranial hemorrhage |
ORPHA:3226 |
| Zimmermann-Laband Syndrome 1 |
|
Long penis, Gastroesophageal reflux, Umbilical hernia, Splenomegaly, Nephrolithiasis, Hepatomegal... |
OMIM:135500 |
| Loeys-Dietz Syndrome 5 |
|
Aortic root aneurysm, Failure to thrive in infancy, Eosinophilic infiltration of the esophagus, O... |
OMIM:615582 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Penoscrotal transposition, Pyloric stenosis, Anteriorly placed anus, Cryptorchidism, Prominent me... |
OMIM:619148 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Diarrhea, Vomiting, Elevated circulating creatinine concentratio... |
ORPHA:230 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:614650 |
| Autosomal Dominant Centronuclear Myopathy |
|
Pyloric stenosis, Polyhydramnios, Cryptorchidism, Decreased fetal movement, Urinary incontinence,... |
ORPHA:169189 |
| Monosomy 18Q |
|
Secondary growth hormone deficiency, Growth delay, Failure to thrive, Bilateral cryptorchidism, S... |
ORPHA:1600 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Metacarpal periost... |
OMIM:617994 |
| Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Arachn... |
OMIM:609008 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... |
OMIM:616749 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Hypogonadism, Renal insufficiency, Cryptorchidism, Testicular seminoma... |
ORPHA:281090 |
| Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Kyphosis, Short 4th toe, Short humerus, Short neck, Brachydactyly, Polyhydr... |
ORPHA:420794 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture, Kyphoscoliosis |
OMIM:617977 |
| Acrocardiofacial Syndrome |
|
Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis,... |
ORPHA:2008 |
| Prader-Willi Syndrome |
|
Genu valgum, Cryptorchidism, Chronic constipation, Feeding difficulties in infancy, Breech presen... |
OMIM:176270 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Raine Syndrome |
|
Hydroureter, Protruding tongue, Death in infancy, Neonatal death, Hydronephrosis, Short neck, Sub... |
OMIM:259775 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Unilateral renal agenesis, Hypospadias, Ankle flexion contracture, Kyphosis, Gastroesophageal ref... |
ORPHA:464311 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Hand clenching, Mitral valve prolapse, Ventricular septal defect, Contract... |
OMIM:300166 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated circulating hepatic transaminase concentration, Diarrhea, Chronic mucocutaneous candidia... |
ORPHA:79124 |
| Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:160010 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Wrist hypermobility, Joint hypermobility, Gastrostomy tube feeding in infan... |
ORPHA:544503 |
| Aneurysm-Osteoarthritis Syndrome |
|
Arterial dissection, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, A... |
ORPHA:284984 |
| Aicardi Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Choroid plexus cyst, Spina bifida, Partial... |
OMIM:304050 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Renal phosphate wasting, Pseudo-fractures, Polyarticular art... |
ORPHA:289176 |
| Somatostatinoma |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:97283 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| ERI1-related disease |
|
Platyspondyly, Tricuspid regurgitation, Abnormal heart morphology, Slender metacarpals, Clinodact... |
OMIM:608739 |
| Aceruloplasminemia |
|
Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer... |
ORPHA:48818 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Hyperuricemia, Proteinuria, Abnorm... |
ORPHA:261222 |
| Orofaciodigital Syndrome Xvii |
|
Clinodactyly, Tetralogy of Fallot, Short middle phalanx of the 2nd finger, Partial duplication of... |
OMIM:617926 |
| Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia |
OMIM:617970 |
| Hyperlysinuria With Hyperammonemia |
|
Hyperlysinuria, Hyperlysinemia, Dibasicaminoaciduria, Hyperammonemia |
OMIM:238750 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:94066 |
| Noonan Syndrome 4 |
|
Webbed neck, Cryptorchidism, Hydronephrosis, Cubitus valgus, Short neck, Polyhydramnios, Ureteral... |
OMIM:610733 |
| Diamond-Blackfan Anemia 12 |
|
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... |
OMIM:615550 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Cryptorchidism, Renal insufficiency, Displacement of the urethral meat... |
ORPHA:2377 |
| Zygomycosis |
|
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Abdominal pain, Endocarditis, Gastrointes... |
ORPHA:73263 |
| Pericardial And Diaphragmatic Defect |
|
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... |
ORPHA:2847 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Hypera... |
ORPHA:1194 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Arrhythmia, Atrial sep... |
OMIM:249270 |
| Osteogenesis Imperfecta, Type X |
|
Platyspondyly, Osteopenia, Recurrent pneumonia, Respiratory distress, Genu valgum, Death in child... |
OMIM:613848 |
| Noonan Syndrome 13 |
|
Bruising susceptibility, Clinodactyly, Lymphedema, Overlapping toe, Limited elbow extension, Mitr... |
OMIM:619087 |
| Helsmoortel-Van Der Aa Syndrome |
|
Ankyloglossia, Genu valgum, Cryptorchidism, Dysphagia, High, narrow palate, Premature rupture of ... |
OMIM:615873 |
| Focal Dermal Hypoplasia |
|
Toe syndactyly, Supernumerary nipple, Cryptorchidism, Foot polydactyly, Short metacarpal, Myelome... |
OMIM:305600 |
| Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Melena, Elevated circulating hepatic transaminase concentration, Lack of bowel soun... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Melena, Elevated circulating hepatic transaminase concentration, Lack of bowel soun... |
ORPHA:100082 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... |
OMIM:200700 |
| Melas |
|
Nephropathy, Focal segmental glomerulosclerosis, Type I diabetes mellitus, Dilated cardiomyopathy... |
ORPHA:550 |
| Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... |
OMIM:208530 |
| Congenital Toxoplasmosis |
|
Ascites, Ventriculomegaly, Hydrocephalus |
ORPHA:858 |
| Angioosteohypotrophic Syndrome |
|
Upper limb undergrowth, Venous malformation, Aplasia/hypoplasia involving bones of the upper limb... |
ORPHA:75508 |
| Leprechaunism |
|
Nephrocalcinosis, Long penis, Abdominal distention, Failure to thrive, Postnatal growth retardati... |
ORPHA:508 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Platyspondyly, Rhizomelia, Dumbbell-shaped femur, Flared metaphy... |
OMIM:156550 |
| Idiopathic Pulmonary Hemosiderosis |
|
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Pallor, Glomerulonephritis, Hepatomegaly, Heart ... |
ORPHA:99931 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Toe clinodactyly, Finger syndactyly, Sandal gap, Mitral regurgitation, Vent... |
ORPHA:254346 |
| Coffin-Siris Syndrome 6 |
|
Clinodactyly, Kyphoscoliosis, Brachydactyly, Atrial septal defect, Diaphragmatic eventration |
OMIM:617808 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias |
OMIM:312190 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Amyloidosis, Finnish Type |
|
Cardiomyopathy, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic synd... |
OMIM:105120 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Tubulointerstitial ... |
OMIM:607944 |
| Fumarase Deficiency |
|
Aminoaciduria, Intrahepatic cholestasis, Hepatic failure, Elevated urine fumaric acid level, Hype... |
OMIM:606812 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ketonuria, Methylmalonic aciduria, Respiratory distress, Feeding difficulties, Renal insufficienc... |
ORPHA:79282 |
| Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... |
OMIM:618594 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Ankle flexion contracture, Dilated cardiomyopathy, Hyperammonemia, 3-Methylglutaconic aciduria, E... |
OMIM:618120 |
| Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Pigment gallstones, Increased circulating lactate dehydrogena... |
ORPHA:232 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... |
ORPHA:300751 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis, Joint hypermobility |
ORPHA:2172 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Intestinal malrotation, Pulmonary hypoplasia |
ORPHA:2140 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Lambdoidal craniosynostosis, Osteopenia, Nephrocalcinosis, Hydroureter, Ureteral stenosis, Ankle ... |
OMIM:615398 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Peripheral pulmonary artery stenosis, Short thumb, Overlapping toe, Arachnodactyly, Radioulnar sy... |
ORPHA:436003 |
| Coffin-Siris Syndrome 5 |
|
Arachnodactyly, Short distal phalanx of finger, Sandal gap, Atrial septal defect |
OMIM:616938 |
| Hypophosphatasia, Adult |
|
Chondrocalcinosis, Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractu... |
OMIM:146300 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Pericardial effusion, Br... |
ORPHA:411703 |
| Haddad Syndrome |
|
Polyhydramnios, Decreased fetal movement, Oligohydramnios, Death in infancy |
ORPHA:99803 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Pathologic fracture, Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperpho... |
ORPHA:157215 |
| Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Calcium oxalate nephrolithiasis, Hydrocephalus |
OMIM:248000 |
| X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Limitation of joint mobility, Genu valgum, Bowing of the long bones, Gen... |
ORPHA:89936 |
| Systemic Lupus Erythematosus |
|
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis |
OMIM:152700 |
| Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Craniofacial hyperostosis, Webbed neck, Unossified sacrum,... |
ORPHA:3003 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Atopic dermatitis, Cholelithiasis, Vomiting, Osteomyelitis, Pustule, Hyponatremia, Feeding diffic... |
ORPHA:171876 |
| Pseudohypoparathyroidism, Type Ia |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypogonadism, Hypocalcemic tet... |
OMIM:103580 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Congestive heart failure, Pallor, Splenomegaly, Jaundice, Tachycardia |
ORPHA:90033 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Urinary incontinence, Normal pressure hydrocephalus |
OMIM:236690 |
| Cog5-Cdg |
|
Lateral ventricle dilatation, Oligohydramnios, Neurogenic bladder, Micropenis, Urinary incontinence |
ORPHA:263487 |
| Danon Disease |
|
Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon... |
OMIM:300257 |
| Smith-Lemli-Opitz Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Renal hypoplasia/aplasia, Short neck, Feeding diffi... |
ORPHA:818 |
| Igg4-Related Pachymeningitis |
|
Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis, Elevated circulating C-reactive pro... |
ORPHA:449427 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Large placenta, Umbilical hernia |
ORPHA:254534 |
| Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Intestinal pseudo-ob... |
ORPHA:1333 |
| Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Kyphoscoliosis |
OMIM:619099 |
| 22Q11.2 Deletion Syndrome |
|
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypoparathyroidism, Polycystic k... |
ORPHA:567 |
| Spherocytosis, Type 1 |
|
Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly |
OMIM:182900 |
| Analbuminemia |
|
Hypotension, Oligohydramnios, Edema |
OMIM:616000 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:1528 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphosis, Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricul... |
OMIM:300967 |
| Alkaptonuria |
|
Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Dark urine, Nephrolithi... |
OMIM:203500 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Abnormal lung lobation, Ascites, Osteolysis, Apnea, Increased nucha... |
ORPHA:1052 |
| Noonan Syndrome 6 |
|
Webbed neck, Feeding difficulties, Cryptorchidism, Short neck, Single umbilical artery, Polyhydra... |
OMIM:613224 |
| Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
| Rin2 Syndrome |
|
Aortic aneurysm, Cryptorchidism |
ORPHA:217335 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect |
ORPHA:2476 |
| Papillary Tumor Of The Pineal Region |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251915 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine |
OMIM:612736 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Facial hypotonia, Mitral regurgitation, Patent foramen ovale, Mitral valve prolapse, Arachnodacty... |
OMIM:615539 |
| Atelosteogenesis, Type Iii |
|
Tombstone-shaped proximal phalanges, Cervical kyphosis, Rhizomelia, Radial bowing, Sandal gap, El... |
OMIM:108721 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Renal insufficiency, Rhabdomyolysis, Myopathy, Myoglobinuria |
ORPHA:713 |
| Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Hyperalaninemia |
ORPHA:254881 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Abnormal lung lobation, Intestinal malrotation, Umbilical hernia, Cryptorchidism, Encephalocele, ... |
ORPHA:2166 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology |
ORPHA:488635 |
| Acromesomelic Dysplasia 1 |
|
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... |
OMIM:602875 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Hyperglycorrhachia, Congestive heart failure, Increased CSF lactate, Hypopituitarism, ... |
ORPHA:90065 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati... |
ORPHA:77293 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated gamma-glutamyltransferase level, Diarrhea, Increased urinary glycerol, Cholestasis, Hepa... |
ORPHA:247598 |
| Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Prolinuria, Hydroxyprolinuria, Hyperglycinemia... |
ORPHA:79101 |
| Polyembryoma |
|
Irregular menstruation, Abnormal peritoneum morphology, Abdominal distention, Abdominal pain, Mac... |
ORPHA:180229 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Scoliosis, Short femur, Ventricular septal defect |
OMIM:601357 |
| Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Subglottic stenosis, Polyhydramnios, Limited elbow movement, Brachydactyly,... |
OMIM:617809 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopath... |
ORPHA:411634 |
| Stevenson-Carey Syndrome |
|
Joint contracture of the hand, Atrial septal defect, Left superior vena cava draining to coronary... |
OMIM:611961 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanx of the hallux, Cryptorchidism, Decreased skull ossification, Aplasi... |
ORPHA:3472 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
| Ollier Disease |
|
Platyspondyly, Micromelia, Abnormal cartilage morphology, Multiple enchondromatosis, Abnormal met... |
ORPHA:296 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... |
ORPHA:3337 |
| Moderate Hemophilia A |
|
Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Abnormal bleeding, Subdural hem... |
ORPHA:169805 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Abnormality of the parathyroid gland, Abnormal form of the vertebral bodies, Tarsal synostosis, C... |
ORPHA:3429 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Dysplasia of the femoral head, Genu valgum, Limited elbow movement, Short neck, Flat acetabular r... |
ORPHA:94068 |
| Primary Hyperoxaluria Type 2 |
|
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... |
ORPHA:93599 |
| 6P22 Microdeletion Syndrome |
|
Hydronephrosis, Hydrocephalus |
ORPHA:251046 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Intestinal malrotation, Splenomegaly, Aqueductal stenosis, Abnormally ossified vertebrae, Pulmona... |
ORPHA:3035 |
| Birk-Landau-Perez Syndrome |
|
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Fa... |
OMIM:617595 |
| Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... |
ORPHA:2248 |
| Glycogen Storage Disease V |
|
Dark urine, Exercise-induced rhabdomyolysis, Hyperuricemia, Elevated circulating creatine kinase ... |
OMIM:232600 |
| Achondroplasia |
|
Thoracolumbar kyphosis, Hip joint hypermobility, Rhizomelia, Kyphosis, Cervical spinal canal sten... |
ORPHA:15 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Acetabular dysplasia, Distal arthrogryposis, Hydrocephalus, Hip dysplasia, Polyhydramnios, Scolio... |
OMIM:619833 |
| Tarp Syndrome |
|
Subdural hemorrhage, Clinodactyly, Tetralogy of Fallot, Oligohydramnios, Single transverse palmar... |
OMIM:311900 |
| Spondylospinal Thoracic Dysostosis |
|
Arthrogryposis multiplex congenita, Multiple pterygia, Pulmonary hypoplasia |
OMIM:601809 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Proximal muscle weakness in lower limbs, Small hand, Proportionate shortening of all digits, Micr... |
ORPHA:280633 |
| Hyperoxaluria, Primary, Type Ii |
|
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis |
OMIM:260000 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... |
OMIM:184253 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Renal hypoplasia, Abnormal forearm bone morphology, Fibular aplasia, O... |
ORPHA:3404 |
| Nephrotic Syndrome, Type 12 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616892 |
| Retinitis Pigmentosa 51 |
|
Pallor, Abnormality of the kidney |
OMIM:613464 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Decreased serum estradiol, Streak ovary, Renal insufficiency,... |
ORPHA:347 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... |
OMIM:605376 |
| Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In... |
ORPHA:95430 |
| Fibrous Dysplasia Of Bone |
|
Osteomalacia, Abnormal tibia morphology, Ovarian cyst, Bowing of the long bones, Elevated circula... |
ORPHA:249 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Radial deviation of finger, Short tibia, Short toe, Type A brachydactyly, Carpal synos... |
OMIM:112910 |
| Long-Olsen-Distelmaier Syndrome |
|
Premature rupture of membranes, Dilated cardiomyopathy, Congestive heart failure, Nonimmune hydro... |
OMIM:620609 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Renal insufficiency, Splenomegaly, Hematuria, Abdominal pain,... |
OMIM:603903 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia, Varicose veins, Peripheral arterial stenosis, Paten... |
OMIM:126320 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Jaundice, Pallor, Splenomegaly |
OMIM:615631 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Arthrogryposis-like hand anomaly, Respiratory distress, Recurrent acute respiratory tract infecti... |
OMIM:620011 |
| Combined Oxidative Phosphorylation Deficiency 59 |
|
Cholelithiasis, Vomiting, Dicarboxylic aciduria, Hyperalaninemia, Feeding difficulties |
OMIM:620646 |
| Noonan Syndrome 14 |
|
Aortic regurgitation, Lateral ventricle dilatation, Hypertrophic cardiomyopathy, Polyhydramnios, ... |
OMIM:619745 |
| Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed eruption of teeth, Hypop... |
OMIM:225500 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Ventricular septal defect, Brachydactyly, Scoliosis, S... |
OMIM:619995 |
| Acquired Ichthyosis |
|
Renal insufficiency |
ORPHA:454 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Dilatation of the renal pelvis, Interstitial emphysema, Kyph... |
OMIM:619708 |
| Gaucher Disease, Type Ii |
|
Gastroesophageal reflux, Failure to thrive, Splenomegaly, Protuberant abdomen, Hepatomegaly, Recu... |
OMIM:230900 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Sacroiliac arthritis, Dilatation of the ventricular cavity, Abnormal thoracic spine morphology, A... |
ORPHA:85438 |
| Hurler Syndrome |
|
Hypoplasia of the odontoid process, Cranial hyperostosis, Umbilical hernia, Heparan sulfate excre... |
OMIM:607014 |
| Aorta Coarctation |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... |
ORPHA:1457 |
| Stt3B-Cdg |
|
Respiratory distress, Micropenis, Cryptorchidism, Feeding difficulties |
ORPHA:370924 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Ketonuria, Organic aciduria, Increased level of hip... |
OMIM:246450 |
| Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:263400 |
| Kury-Isidor Syndrome |
|
Scoliosis, Finger syndactyly, Ventricular septal defect, Talipes equinovarus, Short neck, Brachyd... |
OMIM:619762 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Webbed neck, Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Amniotic cons... |
ORPHA:2215 |
| Tetrasomy 15Q26 |
|
Kyphoscoliosis, Arachnodactyly, Atrial septal defect, Camptodactyly, Hypoplastic aortic arch, Pat... |
OMIM:614846 |
| Zechi-Ceide Syndrome |
|
Short distal phalanx of finger, Sandal gap, Abnormal heart morphology, Atrial septal defect, Shor... |
ORPHA:217017 |
| Orofaciodigital Syndrome Type 4 |
|
Abnormal joint morphology, Perineal fistula, Renal hypoplasia/aplasia, Rectal atresia, Anal atres... |
ORPHA:2753 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Early satiety, Elevated circulating deoxyuridine concentration, Diarrhea, Vomiting, Intestinal ps... |
OMIM:603041 |
| Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebral ar... |
OMIM:619656 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Atr... |
ORPHA:84 |
| Distal Deletion 15Q |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Small hand, Hip dislocation, 2-3 toe cut... |
ORPHA:1596 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... |
ORPHA:3143 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Ventriculomegaly, Hyperlysinuria, Increased CSF lactate, Increased CSF lysine concentration, Colp... |
OMIM:616034 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Single transverse palmar crease, Coarctation of aorta, Atrial septal defect, Patent ductus arteri... |
OMIM:615502 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... |
OMIM:108800 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Increased CSF lactate, Lateral ventricle dilatation, Bradycardia |
ORPHA:565624 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Oligohydramnios, Renal hyp... |
ORPHA:2973 |
| Silver-Russell Syndrome 3 |
|
Postnatal growth retardation, Decreased body weight, Patent ductus arteriosus, Penoscrotal hyposp... |
OMIM:616489 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia |
OMIM:620443 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Short 5th finger, Acromesomelia, Abnormal heart morphology, Patent foramen ovale, Ventricular sep... |
ORPHA:500159 |
| Neuroendocrine Tumor Of The Colon |
|
Melena, Elevated circulating hepatic transaminase concentration, Lack of bowel sounds, Protracted... |
ORPHA:100080 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Recurrent pneumonia, Respiratory distress, Feeding difficulties in infancy, Dysphagia, Scoliosis |
ORPHA:254875 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Low urinary cyclic AMP respons... |
OMIM:603233 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Diarrhea, Cholestasis, Hepatosplenomegaly, Elevated circulating alanine aminotransferase concentr... |
OMIM:620376 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatic failure, Abnormality of Krebs cycle metabolism, Multiple glomerular cysts, Abnormal renal... |
ORPHA:255210 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Macroglossia, Oligosacchariduria, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Facial... |
ORPHA:365 |
| Fanconi Anemia, Complementation Group I |
|
Short 1st metacarpal, Absent thumb, Short thumb, Patent foramen ovale, Ventricular septal defect,... |
OMIM:609053 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation |
OMIM:620075 |
| 16P12.1P12.3 Triplication Syndrome |
|
Short 5th finger, Prominent fingertip pads, Abnormal heart morphology, Clinodactyly of the 4th fi... |
ORPHA:485405 |
| Al-Raqad Syndrome |
|
Sandal gap, Brachydactyly, Atrial septal defect |
OMIM:616459 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... |
OMIM:618780 |
| Kapur-Toriello Syndrome |
|
Joint contracture of the hand, Short thumb, Camptodactyly of finger, Overlapping fingers, Bilater... |
OMIM:244300 |
| Anaplastic Thyroid Carcinoma |
|
Laryngotracheal stenosis, Dyspnea, Goiter, Respiratory distress, Tracheoesophageal fistula, Nodul... |
ORPHA:142 |
| Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria |
OMIM:606996 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Umbilical hernia, Large placenta, Joint hypermobility, Hydronephrosis, Wrist flexion contracture,... |
ORPHA:254528 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Hydrocephalus |
OMIM:615599 |
| Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Abnormal metaphysis morphology, Atrial septal defect, Ventricular septa... |
ORPHA:290 |
| Orofacial Cleft 13 |
|
Micrognathia, Malar flattening, Retrognathia |
OMIM:613857 |
| Congenital Aortic Valve Stenosis |
|
Aortic valve stenosis, Aortic valve calcification, Endocardial fibroelastosis, Left ventricular h... |
ORPHA:3093 |
| Mycophenolate Mofetil Embryopathy |
|
Bifid thoracic vertebrae, Tracheomalacia, Tracheoesophageal fistula, Hydrocephalus, Hydrops fetal... |
ORPHA:268249 |
| Diabetic Embryopathy |
|
Tetralogy of Fallot, Cryptorchidism, Abnormality of the pulmonary artery, Renal hypoplasia/aplasi... |
ORPHA:1926 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Oligohydramnios, Feeding difficulties, Thin skin |
ORPHA:261304 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
| Lujo Hemorrhagic Fever |
|
Facial edema, Generalized edema, Oliguria, Diarrhea, Vomiting, Atelectasis, Respiratory distress,... |
ORPHA:319213 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges... |
ORPHA:29072 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Hepatic failure, Recurrent otitis media, Glue ear, Absence of renal corticomedu... |
OMIM:619758 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Homocystinuria, Diarrhea, Vomiting, Methylmalonic aciduria, Respiratory distress, Jaundice, Feedi... |
OMIM:250940 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Unilateral renal hypoplasia, Vesicoureteral reflux, Agenesis of corpus callosum, Dysplastic corpu... |
OMIM:619955 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Microglossia, Respiratory distress, Polyhydramnios, Hypoplasia of penis, Holoprosencephaly |
ORPHA:990 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation |
OMIM:256850 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Abdominal pain, Osteoporosis,... |
ORPHA:309031 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Horseshoe kidney, Intrauterine growth retardation, Cryptorchidism, Renal cyst, Short stature, Abn... |
ORPHA:166035 |
| Lathosterolosis |
|
Intrahepatic cholestasis, Hepatic failure, Horseshoe kidney, Hepatomegaly, High palate, Hypoplasi... |
ORPHA:46059 |
| Arthrogryposis Multiplex Congenita 5 |
|
Umbilical hernia, Elbow flexion contracture, Medullary nephrocalcinosis, Decreased fetal movement... |
OMIM:618947 |
| Alexander Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:203450 |
| Eisenmenger Syndrome |
|
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ... |
ORPHA:97214 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Neurogenic bladder, Dysphagia, Poly... |
ORPHA:500144 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Abnormality of thyroid physiology, Abnormal cardiac atrium morphology, Le... |
ORPHA:563 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Osteopenia, Hyperphosphaturia, Increased susceptibility to fractures, Ne... |
OMIM:612287 |
| 8P23.1 Microdeletion Syndrome |
|
Hypoplastic left heart, Broad thumb, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Atrioventr... |
ORPHA:251071 |
| Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Persistence of primary te... |
ORPHA:46627 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventriculomegaly, Horseshoe kidney, Agenesis of corpus callosum, Hydrocephalus, Hypospadias |
OMIM:218350 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Narrow pelvis bone, Femoral bowing, Humeroradial synostosis, Ulnar bowing, Arachnodactyly, Atrial... |
OMIM:207410 |
| Restrictive Dermopathy |
|
Large placenta, Decreased skull ossification, Thoracic kyphoscoliosis, Hypospadias, Osteopenia, M... |
ORPHA:1662 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia, Decreased skull ossification, Congenital hypoparathyroidism, Calvar... |
OMIM:244460 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Secretory diarrhea, Failure to thrive, Hypokalemia, Hyponatremia, Abdominal distention, Growth de... |
OMIM:214700 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Facial edema, Angioedema, Respiratory distress, Tongue edema, Laryngeal edema, Palpebral edema, P... |
ORPHA:100057 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Abnormal vertebral morphology, Prominent scalp veins, Subluxation of the s... |
ORPHA:536471 |
| Tyshchenko Syndrome |
|
High, narrow palate, Narrow palate, Supernumerary nipple, Feeding difficulties, Cryptorchidism, P... |
OMIM:615102 |
| Senior-Loken Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis |
OMIM:606995 |
| Coffin-Siris Syndrome 1 |
|
Cryptorchidism, Aplasia/Hypoplasia of the patella, Feeding difficulties in infancy, Dislocated ra... |
OMIM:135900 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Pallor, Splenomegaly, Abnormal urinary color |
ORPHA:56425 |
| Knobloch Syndrome 1 |
|
Occipital encephalocele, Bifid ureter, Renal duplication, Joint hypermobility, Hydronephrosis, Du... |
OMIM:267750 |
| Tarp Syndrome |
|
Horseshoe kidney, Apnea, Cryptorchidism, Hydronephrosis, Abnormal duodenum morphology, Widely pat... |
ORPHA:2886 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Hydrocephalus, Cardiomyopathy |
OMIM:613155 |
| 3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopathy, Atrial septal def... |
OMIM:610198 |
| Hypophosphatemic Bone Disease |
|
Bowing of the legs, Rickets, Osteomalacia |
OMIM:146350 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Generalized edema, Osteopenia, Congenital hip dislocation, Respiratory distress, Multiple prenata... |
OMIM:271225 |
| Tafro Syndrome |
|
Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Hepatomegaly, Elevated circulating C-react... |
ORPHA:457077 |
| Mercury Poisoning |
|
Acute kidney injury, Respiratory distress, Interstitial pneumonitis, Episodic abdominal pain, Epi... |
ORPHA:330021 |
| Aicardi-Goutieres Syndrome 4 |
|
CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus |
OMIM:610333 |
| Genitopatellar Syndrome |
|
Congenital hip dislocation, Multicystic kidney dysplasia, Anal stenosis, Malrotation of small bow... |
OMIM:606170 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Exercise-induced myoglobinuria, Rhabdomyolysis, Renal insufficiency, Myopathy |
OMIM:300653 |
| Chromosome 9P Deletion Syndrome |
|
Sandal gap, Dermatoglyphic variants, Ventricular septal defect, Clinodactyly of the 5th toe, Peri... |
OMIM:158170 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2182 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Osteopenia, Hyperphosphaturia, Increased susceptibility to fractures, Ne... |
OMIM:612286 |
| Pulmonary Hypertension, Primary, 1 |
|
Right ventricular hypertrophy |
OMIM:178600 |
| Cerebrocostomandibular Syndrome |
|
Webbed neck, Multicystic kidney dysplasia, Hydranencephaly, Tracheomalacia, Myelomeningocele, Fee... |
ORPHA:1393 |
| Woods Syndrome |
|
Limited elbow extension, 3-4 finger cutaneous syndactyly, Single transverse palmar crease, Ventri... |
OMIM:615236 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Absent thumb, Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
| Isolated Atp Synthase Deficiency |
|
Renal hypoplasia, Dilated cardiomyopathy, Hypogonadism, Hypertrophic cardiomyopathy, Hyperammonem... |
ORPHA:254913 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Hypoplasia of the thymus, Pericardial effu... |
OMIM:619313 |
| Cyclic Vomiting Syndrome |
|
Pallor, Cardiomyopathy |
OMIM:500007 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Ventricular bigeminy, Palmoplantar keratoderma, Tricuspid regurgitation, ... |
OMIM:620519 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Elevated gamma-glutamyltransferase level, Hepatic failure, Secretory diarrhea... |
OMIM:619573 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Hydrocephalus, Nephroblastoma |
OMIM:602501 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis, Hepatic failure, Dysphagia |
ORPHA:2724 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:619466 |
| Acromesomelic Dysplasia 2C |
|
Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia... |
OMIM:201250 |
| Neu-Laxova Syndrome 1 |
|
Generalized edema, Joint contracture of the hand, Hydranencephaly, Renal agenesis, Small placenta... |
OMIM:256520 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Elbow dislocation, Oligohydramnios, Renal hypoplasia/aplasia, Persistent cloaca, Hemivertebrae, P... |
ORPHA:1112 |
| Deeah Syndrome |
|
Cryptorchidism, Death in childhood, Chronic constipation, Short neck, Micropenis, Cervical hemive... |
OMIM:619004 |
| Neu-Laxova Syndrome 2 |
|
Toe syndactyly, Finger syndactyly, Decreased fetal movement, Short neck, Spina bifida, Polyhydram... |
OMIM:616038 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
| Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Desquamation of skin soon after birth, Respiratory distress, Nausea and vomitin... |
ORPHA:79242 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Arachnodactyly, Atrial septal defect |
ORPHA:93946 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Gastroesophageal reflux, Bowel incontinence, Respiratory distress, Lumbar hyperlor... |
OMIM:616482 |
| Niemann-Pick Disease, Type C1 |
|
Splenomegaly, Fatal liver failure in infancy, Prolonged neonatal jaundice, Low cholesterol esteri... |
OMIM:257220 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Kyphosis, Sandal gap, Single transverse palmar crease, Ventricular septal defect, 2-3 toe syndact... |
OMIM:617061 |
| Glucagonoma |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:97280 |
| Sifrim-Hitz-Weiss Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Short clavicles, Coarctation of aorta, Fused cerv... |
OMIM:617159 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
| Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development |
|
Talipes equinovarus, Ventricular septal defect |
OMIM:209770 |
| Bardet-Biedl Syndrome 17 |
|
Hypogonadism, Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Polyuria, Dextr... |
OMIM:615994 |
| Cardioacrofacial Dysplasia 2 |
|
Postaxial foot polydactyly, Atrioventricular canal defect, Genu valgum, Clinodactyly of the 5th f... |
OMIM:619143 |
| Dyskeratosis Congenita |
|
Hepatic failure, Blepharitis, Periodontitis, Oral leukoplakia, Malabsorption, Splenomegaly, Displ... |
ORPHA:1775 |
| German Syndrome |
|
Lymphedema, Tetralogy of Fallot, Camptodactyly of finger, Short neck, Abnormal cardiac septum mor... |
ORPHA:2077 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Congenital hip dislocation, Recurrent pneumonia, Fractures of the long bones, Polyhydramnios, Chr... |
ORPHA:496641 |
| Multiple Myeloma |
|
Elevated circulating creatinine concentration, Splenomegaly, Anemia, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,... |
ORPHA:456312 |
| Meconium Aspiration Syndrome |
|
Premature rupture of membranes, Meconium stained amniotic fluid, Atelectasis, Aspiration pneumoni... |
ORPHA:70588 |
| Cole-Carpenter Syndrome 2 |
|
Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Platyspondyly, Kyphosis, Oligo... |
OMIM:616294 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Hepatoblastoma, Hepatomeg... |
OMIM:312870 |
| Tatton-Brown-Rahman Syndrome |
|
Aortic root aneurysm, Short toe, Widely spaced toes, Tricuspid regurgitation, Mitral regurgitatio... |
ORPHA:404443 |
| Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Vomiting, Postnatal growth retar... |
ORPHA:90348 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic... |
ORPHA:79284 |
| Joubert Syndrome 10 |
|
Polyhydramnios, Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydactyly |
OMIM:300804 |
| Neuroblastoma |
|
Elevated urinary homovanillic acid, Respiratory distress, Pathologic fracture, Elevated urinary v... |
ORPHA:635 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... |
ORPHA:93315 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Abnormal pelvic girdle bone morphology, Rhizomelia, Tetralogy of Fallot, Stippled calcification p... |
OMIM:222765 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
| Developmental And Epileptic Encephalopathy 86 |
|
Oligohydramnios |
OMIM:618910 |
| Plasminogen Deficiency, Type I |
|
Nephritis, Periodontitis, Nephrolithiasis, Decreased level of plasminogen, Conjunctivitis, Duoden... |
OMIM:217090 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Cardiomegaly, Bradycardi... |
OMIM:614702 |
| Rubinstein-Taybi Syndrome |
|
Clubbing of toes, Broad thumb, Finger syndactyly, Abnormal distal phalanx morphology of finger, C... |
ORPHA:783 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Pallor, Pancreatic islet-cell hyperplasia, Increased hepatic glycogen content, Protei... |
ORPHA:263455 |
| Noonan Syndrome 5 |
|
Hypertrophic cardiomyopathy, Cubitus valgus, Arrhythmia, Short neck, Atrial septal defect, Polyhy... |
OMIM:611553 |
| Temtamy Syndrome |
|
Aortic aneurysm |
OMIM:218340 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Talipes equinovar... |
OMIM:609945 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Hematochezia, Diarrhea, Vomiting, Malabsorption, Weight loss, Elevated circulati... |
ORPHA:2070 |
| Waardenburg Syndrome Type 3 |
|
Synostosis of carpal bones, Camptodactyly of finger, Cutaneous finger syndactyly, Atrial septal d... |
ORPHA:896 |
| Lateral Meningocele Syndrome |
|
Cryptorchidism, Aortic aneurysm, Neurogenic bladder, Short stature, Patent ductus arteriosus |
OMIM:130720 |
| Hand-Foot-Genital Syndrome |
|
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ... |
ORPHA:2438 |
| Proteus Syndrome |
|
Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex, Calvarial hyperostosis |
OMIM:176920 |
| Moebius Syndrome |
|
Bifid uvula, Respiratory distress, Decreased testicular size, Short neck, Camptodactyly, Feeding ... |
OMIM:157900 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Hypertrophic cardiomyopathy, Facial diplegia, 2-3 toe syndactyly, ... |
OMIM:619121 |
| Sialuria |
|
High, narrow palate, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hep... |
ORPHA:3166 |
| Lethal Congenital Contracture Syndrome 9 |
|
Axillary pterygium, Joint contracture of the hand, Congenital contracture, Ankylosis, Absence of ... |
OMIM:616503 |
| Tetraploidy |
|
Radial club hand, Renal hypoplasia/aplasia, Hydronephrosis, Aplasia/Hypoplasia of the lungs, Clef... |
ORPHA:3305 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Hypoplastic iliac wing, Carpal bone hypoplasia, Short neck, Shor... |
OMIM:611717 |
| Pallister-Hall Syndrome |
|
Cryptorchidism, Neonatal death, Radial head subluxation, Anal atresia, Holoprosencephaly, Ectopic... |
OMIM:146510 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Clinodactyly of the 3rd toe, Oligodactyly, Abnormality of the hand, Atrial septal defect, Clinoda... |
ORPHA:521308 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Hepatic failure |
ORPHA:261519 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Adducted thumb, Rocker bottom foot, Atrial septal defect, Patent foramen ovale |
ORPHA:89844 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Clinodactyly, Biventricular hypertrophy, Coronary artery fistula, Complet... |
OMIM:619343 |
| Joubert Syndrome 15 |
|
Micropenis, Nephronophthisis, Exencephaly |
OMIM:614464 |
| Blau Syndrome |
|
Nephropathy, Posterior uveitis, Keratitis, Abnormality of the liver, Stage 5 chronic kidney disea... |
ORPHA:90340 |
| Meier-Gorlin Syndrome 1 |
|
Joint contracture of the hand, Elbow dislocation, Genu valgum, Cryptorchidism, Patellar aplasia, ... |
OMIM:224690 |
| 7Q11.23 Microduplication Syndrome |
|
Hypospadias, Unilateral renal agenesis, Growth delay, Obesity, Cryptorchidism, Chronic constipati... |
ORPHA:96121 |
| Primary Hyperoxaluria |
|
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Cardiomyopathy, Hyp... |
ORPHA:416 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Seborrheic dermatitis, Abdominal distention, Jaundice, Stomatitis |
OMIM:246400 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Congenital contracture, Chylothorax, Thymus hyperplasia, Death in infancy, Decreased fetal moveme... |
OMIM:619036 |
| Alazami Syndrome |
|
Scoliosis, Slender long bone, Atrial septal defect |
ORPHA:319671 |
| Teebi Hypertelorism Syndrome 1 |
|
Coronal craniosynostosis, Sagittal craniosynostosis, Single umbilical artery, Hydrocele testis, P... |
OMIM:145420 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... |
ORPHA:37042 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Pterygium, Hydrocephalus, Joint contracture, Polyhydramnios, Premature birth |
OMIM:225790 |
| Muckle-Wells Syndrome |
|
Elevated circulating C-reactive protein concentration, Renal amyloidosis, Renal insufficiency |
OMIM:191900 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Micropenis, Scoliosis, Polyhydramnios, Cryptorchidism |
OMIM:619761 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Small hand, Short foot, Abnormal ulnar metaphysis morphology, Narrow palm |
ORPHA:177910 |
| Cardiofaciocutaneous Syndrome 1 |
|
Webbed neck, Osteopenia, Vomiting, Gastroesophageal reflux, Hyperextensibility of the finger join... |
OMIM:115150 |
| Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Shallow acetabular fossae, Cardiomyopathy, Irregular carpal bones, Spondylo... |
OMIM:252600 |
| Argininemia |
|
Diaminoaciduria, Hyperammonemia |
ORPHA:90 |
| Listeriosis |
|
Arteritis, Diarrhea, Pustule, Abdominal pain, Jaundice, Endocarditis, Acute kidney injury, Osteom... |
ORPHA:533 |
| Congenital Contractural Arachnodactyly |
|
Slender build, Aortic aneurysm |
ORPHA:115 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the radius, Oligodactyly, Abnormality of the wrist, Abnormal morphology of ... |
ORPHA:1307 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared ... |
OMIM:215150 |
| Primary Myelofibrosis |
|
Hepatosplenomegaly, Portal hypertension, Splenomegaly, Pallor, Ecchymosis, Petechiae, Hepatomegal... |
ORPHA:824 |
| Alkaptonuria |
|
Aminoaciduria, Elevated urinary homogentisic acid, Atherosclerosis, Dark urine, Black pigment gal... |
ORPHA:56 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Delayed cranial suture closure, Respiratory distress, Chronic constipation, High palate, Hepatome... |
OMIM:619383 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Hepatosplenomegaly, Nonimmune hydrops fetalis |
OMIM:256540 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria, Hyperammonemia, Abnormal circulating leucine concentration |
ORPHA:6 |
| Iniencephaly |
|
Absent vertebra, Spinal dysraphism, Renal agenesis, Myelomeningocele, Encephalocele, Anencephaly,... |
ORPHA:63259 |
| Shashi-Pena Syndrome |
|
Dilation of Virchow-Robin spaces, Kyphosis, Cervical C2/C3 vertebral fusion, Short metacarpal, De... |
OMIM:617190 |
| Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Thoracic hemivertebrae, Butterfly vertebrae, Patent foramen ovale, Ventri... |
OMIM:301043 |
| Simpson-Golabi-Behmel Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Supernumerary nippl... |
ORPHA:373 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Vomiting, Elevated circulating hepatic transaminase concentration, Ketonuria, Acute hepatic failu... |
OMIM:615453 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis |
OMIM:618838 |
| Rheumatic Fever |
|
Epistaxis, Erythema, Pallor, Arrhythmia, Myocarditis, Nephrotic syndrome, Pericarditis |
ORPHA:3099 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Osteopenia, Joint stiffness, Patent foramen ovale, Proteinuri... |
OMIM:619127 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Scoliosis, Abnormal epiphysis morphology, Abnormal cerebral vascular morphology, Micromelia, Hypo... |
ORPHA:2637 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Short neck,... |
OMIM:612582 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:235200 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
| Vascular Ehlers-Danlos Syndrome |
|
Periodontitis, Cryptorchidism, Hypospadias, Pulmonary artery aneurysm, Arteriovenous fistulas of ... |
ORPHA:286 |
| Bor Syndrome |
|
Multicystic kidney dysplasia, Retrognathia, Vesicoureteral reflux, Ureteropelvic junction obstruc... |
ORPHA:107 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Loeys-Dietz Syndrome |
|
Arterial dissection, Aortic dissection, Arterial tortuosity, Aortic aneurysm, Vascular dilatation... |
ORPHA:60030 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Unilateral renal agenesis, Supernumerary nipple, Decreased response to growth hormone stimulation... |
OMIM:213980 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:90060 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
| Braddock-Carey Syndrome 1 |
|
Small hand, Clinodactyly, Aortic valve prolapse, Ventricular septal defect, Talipes equinovarus, ... |
OMIM:619980 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Cryptorchidism, Constipation, Fetal ... |
ORPHA:73246 |
| Miller-Dieker Lissencephaly Syndrome |
|
Joint contracture of the hand, Sacral dimple, Cryptorchidism, Decreased fetal movement, Camptodac... |
OMIM:247200 |
| Tetrasomy 5P |
|
Respiratory distress, Short neck, Hydrocephalus, High palate, Recurrent respiratory infections, W... |
ORPHA:3309 |
| Alg12-Cdg |
|
Recurrent pneumonia, Gastroesophageal reflux, Intestinal malrotation, Feeding difficulties, Polyh... |
ORPHA:79324 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hyperammonemia,... |
OMIM:620211 |
| Auriculocondylar Syndrome 2A |
|
Microglossia, Respiratory distress, Feeding difficulties, Apnea, Glossoptosis, Cleft palate |
OMIM:614669 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gastroesophageal reflux, Failure to thrive, Intrauterine growth retardation, Vesicoureteral reflu... |
ORPHA:453499 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Clinodactyly, Patent foramen ovale, Talipes equinovarus, Short neck, Transposition of the great a... |
OMIM:616789 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Hypoplasia of the odontoid process, Genu valgum, Delayed pubic bone ossification, ... |
OMIM:184250 |
| Proximal Spinal Muscular Atrophy |
|
Distal upper limb muscle weakness, Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow fle... |
ORPHA:70 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Developmental And Epileptic Encephalopathy 66 |
|
Clinodactyly of the 5th finger, Atrial septal defect, Dextrocardia, Ventricular septal defect |
OMIM:618067 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Arterial rupture, Bruising susceptibility, Scoliosis, Atrial septal defect |
OMIM:619115 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Micropenis, Hydrops fetalis, Hypospadias, Wide an... |
OMIM:613673 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Supernumerary nipple, Cryptorchidism, Vertebral segmentation defect, High palate, Holoprosencepha... |
OMIM:612530 |
| Bresek Syndrome |
|
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Neonatal death, Hydrocephalus... |
ORPHA:85284 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Bifid uvula, Hip dislocation, Respiratory distress, Sacral dimple, Feeding difficulties, Joint hy... |
OMIM:300968 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... |
ORPHA:2878 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Supernumerary nipple, Cryptorchidism, Feeding difficulties in infancy, Hydrocephalus, Polyhydramn... |
ORPHA:1812 |
| Filippi Syndrome |
|
2-4 toe syndactyly, Finger clinodactyly, Single transverse palmar crease, Ventricular septal defe... |
OMIM:272440 |
| Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating aldosterone level, Renal insufficiency, Decreased circulating ... |
OMIM:177200 |
| Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Rickets, Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
| Cerebrocostomandibular Syndrome |
|
Webbed neck, Anal stenosis, Scoliosis, Congenital hip dislocation, Gastroesophageal reflux, Anter... |
OMIM:117650 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Abnormal hip bone morphology, Congenital diaphragmatic hernia, Ventricul... |
ORPHA:1488 |
| Heart And Brain Malformation Syndrome |
|
Polyhydramnios, Prominent metopic ridge, Wide anterior fontanel, Camptodactyly of finger |
OMIM:616920 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... |
OMIM:191800 |
| Mccune-Albright Syndrome |
|
Renal phosphate wasting, Increased circulating prolactin concentration, Osteomalacia, Cholestasis... |
ORPHA:562 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Gastroesophageal reflux, Respiratory distress, Microvesicular hepatic steatosis, Lacticaciduria, ... |
OMIM:615595 |
| Recurrent Respiratory Papillomatosis |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheomalacia, Atelectasis, R... |
ORPHA:60032 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation, Cardiomyopathy |
ORPHA:572798 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Exercise-induced rha... |
ORPHA:284426 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Hypoamylasemia, Decreased circulating lipoprotein lipase concentration, Absent gallbladder, Reduc... |
ORPHA:556955 |
| Trisomy 20P |
|
Platyspondyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Umbilical hernia, ... |
ORPHA:261318 |
| Propionic Acidemia |
|
Hyperglycinuria, Increased level of hippuric acid in urine, Cardiomyopathy, Hyperglycinemia, Hype... |
OMIM:606054 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Diarrhea, Hepatosplenomegaly, Splenomegaly, Weight loss, Anorexia |
OMIM:209950 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Congenital hip dislocation, Delayed eruption of teeth, Sacral dimple, Olig... |
ORPHA:96170 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Ventriculomegaly, Dilated cardiomyopathy, Hydrocephalus |
ORPHA:272 |
| Al Kaissi Syndrome |
|
Small hand, Clinodactyly, Deep palmar crease, Atrial septal defect, Torticollis, Hemivertebrae, S... |
OMIM:617694 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Clinodactyly of the 5th finger, Ventricular septal defect |
OMIM:314320 |
| Cardiofaciocutaneous Syndrome 4 |
|
Decreased response to growth hormone stimulation test, Scoliosis, Polyhydramnios, Joint hypermobi... |
OMIM:615280 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Cervical spinal canal stenosis, Elbow contracture, Elbow flexion contracture, Carpal synostosis, ... |
OMIM:178110 |
| Sialuria |
|
Splenomegaly, Hypoplastic nipples, Protuberant abdomen, Increased level of N-acetylneuraminic aci... |
OMIM:269921 |
| Nail-Patella Syndrome |
|
Thickened glomerular basement membrane, Decreased muscle mass, Contracture of the distal interpha... |
ORPHA:2614 |
| Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Abdominal pain, Chronic pancreatitis, Neoplasm of the pancreas |
OMIM:608189 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Lateral ventricle dilatation, Orthostatic hypotension, Lymphedema |
ORPHA:2822 |
| Marburg Hemorrhagic Fever |
|
Diarrhea, Anorexia, Abdominal pain, Jaundice, Elevated circulating creatinine concentration, Rena... |
ORPHA:99826 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Short distal phalanx of finger, Ulnar deviation of finger, Toe syndactyly, ... |
ORPHA:261330 |
| Cerebellofaciodental Syndrome |
|
Slender long bone, Proximal femoral epiphysiolysis, Genu valgum, Mitral valve prolapse, Ventricul... |
OMIM:616202 |
| Joubert Syndrome 2 |
|
Nephronophthisis, Episodic tachypnea, Renal insufficiency, Encephalocele, Renal cyst, Central apn... |
OMIM:608091 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
| Proteus Syndrome |
|
Pulmonary cyst, Pulmonary bulla, Calvarial hyperostosis, Hip dislocation, Lymphedema, Sirenomelia... |
ORPHA:744 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... |
ORPHA:261183 |
| Atrial Septal Defect, Ostium Primum Type |
|
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... |
ORPHA:99106 |
| Chromosome 18Q Deletion Syndrome |
|
Atopic dermatitis, Decreased response to growth hormone stimulation test, Failure to thrive in in... |
OMIM:601808 |
| Alfadhel Syndrome |
|
Horseshoe kidney, Nasal flaring, Joint hypermobility |
OMIM:620655 |
| Criss-Cross Heart |
|
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... |
ORPHA:1461 |
| Osteogenesis Imperfecta, Type Xxii |
|
Abnormal blood phosphate concentration, Decreased circulating osteocalcin level, Thin bony cortex... |
OMIM:619795 |
| Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Diarrhea, Hyperphosphatemia, Hematuria, Glomerulonephritis, Tubulointerst... |
ORPHA:340 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations... |
ORPHA:99094 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of the liver, Hydrops fetalis, Cardiomyopathy, Hepatocellular carcinoma |
ORPHA:88618 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:618577 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Proteinuria, Acute kidney injury, Increased circulating ferritin concentration |
OMIM:618886 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Recurrent urin... |
OMIM:248190 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypopituitarism, Hepatosplenomegaly, Oligohydramnios, Hepatic steatosis, Joint hypermobility, Fee... |
OMIM:619013 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Decreased response to growth hormone stimulation test, Renal cyst, Coarctation o... |
OMIM:617260 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal circulating enzyme concentration or activity, Gastrostomy t... |
ORPHA:512 |
| Occipital Horn Syndrome |
|
Synostosis of joints, Osteomalacia, Cholestasis, Delayed cranial suture closure, Humerus varus, G... |
ORPHA:198 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Normal pressure hydrocephalus, Partial agenesis of the corpus callosum, Abnormal thalamus morphol... |
ORPHA:300570 |
| Atelis Syndrome 1 |
|
Lumbar kyphosis, Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... |
ORPHA:99125 |
| Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis |
OMIM:620374 |
| Feingold Syndrome |
|
Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia |
ORPHA:1305 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Joint hypermobility, High palate, Scoliosis, Hyposp... |
ORPHA:2115 |
| Viss Syndrome |
|
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Genu valgum, Mitral valv... |
OMIM:619472 |
| Suleiman-El-Hattab Syndrome |
|
Clinodactyly, Patent foramen ovale, Polydactyly, Ventricular septal defect, Single transverse pal... |
OMIM:618950 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Hamartoma of tongue, Absent gallbladder, Neonatal death, Decreased calvarial ossification, Short ... |
OMIM:617925 |
| Periventricular Nodular Heterotopia 7 |
|
1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow co... |
OMIM:617201 |
| Delpire-Mcneill Syndrome |
|
Hip dislocation, Ventricular septal defect |
OMIM:619083 |
| Ulnar-Mammary Syndrome |
|
Short distal phalanx of finger, Camptodactyly of finger, Absent hand, Abnormality of the wrist, V... |
ORPHA:3138 |
| Mckusick-Kaufman Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Glandular hypospadias, Tetralogy of Fallot, Cryp... |
ORPHA:2473 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Patent foramen ovale, Arrhythmia, Brachydactyly, Short long bone, Atrial septal defect, Scoliosis... |
OMIM:619184 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Abnormal hea... |
OMIM:617641 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Kyphosis, Scoliosis, Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
| Niemann-Pick Disease, Type C2 |
|
Fetal ascites, Splenomegaly, Death in childhood, Death in infancy, Prolonged neonatal jaundice, H... |
OMIM:607625 |
| Fontaine Progeroid Syndrome |
|
Cryptorchidism, Protruding tongue, Neonatal death, High, narrow palate, Coronal craniosynostosis,... |
OMIM:612289 |
| Systemic Capillary Leak Syndrome |
|
Diarrhea, Oliguria, Renal insufficiency, Abnormal renal tubule morphology, Pancreatitis, Weight l... |
ORPHA:188 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level |
OMIM:605115 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration, Reduced haptoglobin level,... |
OMIM:301110 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Acne, Abnormal circulating lipid concentration, Biliary tract abnormality |
ORPHA:3191 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Tetralogy of Fallot, Genu valgum |
ORPHA:1381 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Fifth finger distal phalanx clinodactyly, Ventricular septal defect |
ORPHA:3369 |
| Classic Hodgkin Lymphoma |
|
Splenomegaly, Weight loss, Anorexia, Hepatomegaly, Poor appetite |
ORPHA:391 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Oliguria, Xerostomia, Gastroesophageal reflux, Malabsorption, Renal insufficiency, Nausea and vom... |
ORPHA:220393 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Right ventricular hypertrophy |
ORPHA:275766 |
| Feingold Syndrome Type 1 |
|
Interrupted aortic arch, Nephritis, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux,... |
ORPHA:391641 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Vomiting, Diarrhea, Respiratory distress, Reye syndrome-like episodes, Hepatomegaly, Nausea, Feed... |
ORPHA:927 |
| Functioning Gonadotropic Adenoma |
|
Pituitary gonadotropic cell adenoma, Ascites, Decreased response to growth hormone stimulation te... |
ORPHA:91348 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Moyamoya phenomenon, Hypoplastic iliac wing... |
OMIM:210720 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Diarrhea, Vomiting, Increased urinary glycerol, Respiratory distress, Episodic tachypnea, Hepatic... |
ORPHA:348 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Oligohydramnios, Cryptorchidism, Nephroblastoma, Renal cyst, Short ... |
OMIM:257300 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Nephropathy, Hypertrophic cardiomyopathy, Renal insufficiency, Proteinuria... |
ORPHA:330001 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor, Abnormal urinary color |
ORPHA:90036 |
| Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Ventriculomegaly, Decreased response to growth hormone stimulation tes... |
OMIM:609757 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Clinodactyly, Palpebral edema, Kyphoscoliosis, Talipes equinovarus, Atrial septal defect, Brachyd... |
ORPHA:397709 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Kyphosis, Vomiting, Breast hypop... |
ORPHA:464306 |
| Mucolipidosis Type Ii |
|
Limitation of joint mobility, Cardiomyopathy, Decreased movement range in interphalangeal joints,... |
ORPHA:576 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypospadias, Eczematoid dermatitis, Recurrent urinary tract infections, Decreased response to gro... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hypospadias, Eczematoid dermatitis, Recurrent urinary tract infections, Decreased response to gro... |
ORPHA:363958 |
| Floating-Harbor Syndrome |
|
Dilatation of the renal pelvis, Clinodactyly, Cryptorchidism, Short neck, Broad fingertip, Disloc... |
ORPHA:2044 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Nephrocalcinosis, Hyperchloriduria, Renal juxtaglomerular cell hypertrophy/hyperplasi... |
OMIM:241200 |
| Reticular Dysgenesis |
|
Diarrhea, Weight loss, Malabsorption, Failure to thrive |
ORPHA:33355 |
| Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... |
OMIM:617731 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Aortic aneurysm |
OMIM:612422 |
| Otopalatodigital Syndrome, Type Ii |
|
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... |
OMIM:304120 |
| Beta-Ketothiolase Deficiency |
|
Hypotension, Ketonuria, Edema, Pallor, Hepatomegaly, Hypertension, Dehydration |
ORPHA:134 |
| Zaki Syndrome |
|
Broad distal phalanx of finger, Toe syndactyly, Ectrodactyly, Hypoplasia of the phalanges of the ... |
OMIM:619648 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Feeding difficulties in infancy, Cholecystitis, Abdominal distention |
ORPHA:309256 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... |
ORPHA:447 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Type I diabetes mellitus, Insulin-resistant diabetes mellitus, Irregular tarsal ossification, Ren... |
OMIM:226980 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Xerostomia, Hydroureter, Oligohydramnios, Cryptorchidism, Hydronephro... |
OMIM:100100 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Hematuria, Weight loss, Tubulointerstitial nephritis... |
ORPHA:183 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Homocystinuria, Gastroesophageal reflux, Methylmalonic aciduria, Failure to thrive, Cryptorchidis... |
OMIM:614857 |
| Spondyloocular Syndrome |
|
Platyspondyly, Lymphedema, Overlapping toe, Mitral valve prolapse, Arachnodactyly, Femur fracture... |
OMIM:605822 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Scoliosis, Lumbar hyperlordosis, ... |
OMIM:250420 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Mitral valve prolapse, Peau ... |
OMIM:177850 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Hypo... |
OMIM:127000 |
| Mesomelia-Synostoses Syndrome |
|
Abnormal vertebral morphology, Tarsometatarsal synostosis, Progressive forearm bowing, Distal fem... |
OMIM:600383 |
| Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... |
OMIM:615067 |
| Kawasaki Disease |
|
Vasculitis, Diarrhea, Sterile pyuria, Hepatitis, Conjunctivitis, Ascending tubular aorta aneurysm... |
ORPHA:2331 |
| Van Esch-O'Driscoll Syndrome |
|
Bifid uvula, Feeding difficulties, Pulmonary artery stenosis, Tracheoesophageal fistula, Esophage... |
OMIM:301030 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
| Marfan Syndrome |
|
Pulmonary artery dilatation, Aortic root aneurysm, Aortic dissection, Premature osteoarthritis, A... |
OMIM:154700 |
| Hereditary Angioedema Type 1 |
|
Facial edema, Diarrhea, Vomiting, Abnormal soft palate morphology, Respiratory distress, Tongue e... |
ORPHA:100050 |
| 1Q41Q42 Microdeletion Syndrome |
|
Cryptorchidism, Submucous cleft hard palate, Holoprosencephaly, Cleft palate, Pulmonary hypoplasia |
ORPHA:250999 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Bruising susceptibility, Elbow contracture, Irregular epiphyses, Ulnar deviation of t... |
OMIM:618162 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Cerebral edema, Facial erythema, Pallor |
ORPHA:439218 |
| X Small Rings |
|
Toe syndactyly, Aortic root aneurysm, Upper limb undergrowth, Oligohydramnios, Mitral stenosis, L... |
ORPHA:96201 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, 2-3 toe syndactyly, Talipes equinovarus, Brachyda... |
ORPHA:3306 |
| Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Vesicoureteral reflux, Abnormal cortical bone morphology, Joint hyperm... |
ORPHA:2484 |
| Primary Hyperoxaluria Type 1 |
|
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... |
ORPHA:93598 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Prominent fingertip pads, Mitral valve prolapse, Arachnodactyly, Hyperlordosis, Atrial septal def... |
OMIM:300986 |
| Stankiewicz-Isidor Syndrome |
|
Absent thumb, Short thumb, Truncus arteriosus, Ventricular septal defect, 2-3 toe syndactyly, Pat... |
OMIM:617516 |
| Sarcoidosis |
|
Hepatic failure, Bronchiectasis, Nephrocalcinosis, Decreased liver function, Parotitis, Enlargeme... |
ORPHA:797 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Ventriculomegaly, Oligohydramnios, Lateral ventricle dilatation, Recurrent urinary tract infections |
OMIM:619229 |
| Colonic Atresia |
|
Abnormal mesentery morphology, Abdominal situs inversus, Abdominal distention |
ORPHA:1198 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Hepatosplenomegaly, Stage 5 chronic kidney disease, Splenomeg... |
OMIM:615559 |
| Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Hepatic failure, Skin rash |
ORPHA:49566 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Microgastria, Gastroesophageal reflux, Renal agenesis, Intestinal m... |
ORPHA:2538 |
| Joubert Syndrome 14 |
|
Encephalocele, Renal cyst, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Dan... |
OMIM:614424 |
| Dextrocardia |
|
Webbed neck, Congenital hip dislocation, Abnormality of abdominal situs, Pancreatic hypoplasia, M... |
ORPHA:1666 |
| Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, Osteoarthr... |
ORPHA:77296 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement, Nephrocalcinosis, Hypophosphatemic rickets |
OMIM:614473 |
| Mosaic Trisomy 20 |
|
Craniofacial asymmetry, Clinodactyly, Spinal canal stenosis, Abnormal mitral valve morphology, Dy... |
ORPHA:1724 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Abnormal heart morphology, Patent foramen ovale, Congenital muscular ... |
ORPHA:457279 |
| Methylmalonic Aciduria, Cbla Type |
|
Vomiting, Ketonuria, Methylmalonic aciduria, Respiratory distress, Elevated urine 3-hydroxypropio... |
OMIM:251100 |
| Methimazole Embryofetopathy |
|
Polyhydramnios, Tracheoesophageal fistula, Hypospadias, Esophageal atresia |
ORPHA:1923 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Joint contracture of the hand, Peripheral pulmonary artery stenosis, Clinodactyly, Broad 2nd toe,... |
OMIM:280000 |
| Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, Cardiomegaly, Hepatomegaly, As... |
OMIM:252920 |
| Steinert Myotonic Dystrophy |
|
Hyperinsulinemia, Pelvic girdle muscle weakness, Secondary hyperparathyroidism, Abnormality of th... |
ORPHA:273 |
| Myhre Syndrome |
|
Aortic valve stenosis, Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Enlarged vertebral ... |
OMIM:139210 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal vertebral morphology, Abnormal heart morphology, Congenital diaphragmatic hernia, Abnorm... |
ORPHA:261197 |
| Snijders Blok-Campeau Syndrome |
|
Perimembranous ventricular septal defect, Scoliosis, Atrial septal defect, Pulmonic stenosis |
OMIM:618205 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Congenital contracture, Death in childhood, Feeding difficulties in infancy, Polyhydramnios, Dysp... |
OMIM:277470 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Cone-shaped epiphysis, Horseshoe kidney, Polyhydramnios, Splenomegaly, Aplasia of the epiglottis,... |
OMIM:617088 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Leishmaniasis |
|
Hepatomegaly, Skin ulcer, Pallor, Splenomegaly |
ORPHA:507 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormal heart morphology, Muscular ventricular septal defect, Overlapping toe, Perimembranous ve... |
ORPHA:363444 |
| Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect |
OMIM:614475 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
| Costello Syndrome |
|
Gastroesophageal reflux, Cryptorchidism, Joint hypermobility, Short neck, Feeding difficulties in... |
ORPHA:3071 |
| Progressive Osseous Heteroplasia |
|
Ectopic ossification in muscle tissue, Limitation of joint mobility, Abnormality of the parathyro... |
ORPHA:2762 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:398189 |
| Noonan Syndrome 7 |
|
Hypertrophic cardiomyopathy, Cubitus valgus, Deep palmar crease, Short neck, Atrial septal defect... |
OMIM:613706 |
| Weill-Marchesani Syndrome 2 |
|
Proportionate short stature, Protuberant abdomen, Ascending aortic dissection, Short stature, Pat... |
OMIM:608328 |
| 19P13.3 Microduplication Syndrome |
|
Clinodactyly, Ventricular septal defect, Kyphoscoliosis, Pulmonary arterial hypertension, Long fi... |
ORPHA:447980 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Hip dislocation, Shallow acetabular fossae, Radial bowing, Petechiae, Ulnar bowing, Limited prona... |
OMIM:605432 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Hypoplastic ilia, Platyspondyly, Scoliosis, Abnormal epiphysis morphology, Metap... |
ORPHA:85167 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Respiratory distress, Pleural effusion, Tachypnea, Pneumothorax, Acute infectious pneu... |
ORPHA:36238 |
| Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Brachydactyly, Camptodactyly, Clinodact... |
OMIM:619123 |
| Shwachman-Diamond Syndrome 2 |
|
Diarrhea, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, High palate, ... |
OMIM:617941 |
| Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Broad thumb, Brachydactyly, Atrial septal defect |
OMIM:614526 |
| 46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... |
OMIM:618901 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:66661 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Micromelia, Ventricular septal defect, Postaxial polydactyly, Brachydactyly, Hy... |
OMIM:617895 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Coarse metaphyseal trabecularization, Flared metaphysis, Sandwich appearance of vertebral bodies,... |
OMIM:620558 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Cryoglobulinemic Vasculitis |
|
Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopathy, Arthritis, Hepatomegaly |
ORPHA:91138 |
| Noonan Syndrome 2 |
|
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Short neck, Atrial septa... |
OMIM:605275 |
| Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect |
OMIM:212090 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Hepatic failure |
ORPHA:3196 |
| Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, S... |
OMIM:615879 |
| Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Broad phalanges of the hand, Spinal canal stenosis, Lumbar hyperlordosis, ... |
OMIM:277600 |
| Sweeney-Cox Syndrome |
|
Short distal phalanx of finger, Bilateral cryptorchidism, 2-4 finger syndactyly, Short clavicles,... |
OMIM:617746 |
| Alexander Disease Type I |
|
Hydrocephalus, Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... |
ORPHA:1727 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hydrocephalus |
ORPHA:2181 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... |
ORPHA:3453 |
| Tetanus |
|
Elevated urinary norepinephrine level, Respiratory distress, Stiff neck, Tachypnea, Abdominal pai... |
ORPHA:3299 |
| Shwachman-Diamond Syndrome 1 |
|
Nephrocalcinosis, Respiratory distress, Exocrine pancreatic insufficiency, Irregular ossification... |
OMIM:260400 |
| Erdheim-Chester Disease |
|
Abnormal pericardium morphology, Osteomyelitis, Renal insufficiency, Abnormal aortic valve morpho... |
ORPHA:35687 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Increased nuchal translucency, Scoliosis, Ventricular septal defect |
OMIM:617635 |
| Wiedemann-Steiner Syndrome |
|
Short 5th finger, Small hand, Short toe, Short middle phalanx of finger, Long hallux, Contracture... |
OMIM:605130 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:301006 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, Sandal gap, Congenital diaphragmatic hernia, Ventricular septal defect, Ara... |
OMIM:617602 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
3-Methylglutaric aciduria, Hypotension, Dilated cardiomyopathy, Ketonuria, Dehydration, Pallor, L... |
ORPHA:20 |
| Polyarteritis Nodosa |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Weight loss, Abnormality o... |
ORPHA:767 |
| Potocki-Lupski Syndrome |
|
Scoliosis, Atrial septal defect, Patent foramen ovale |
OMIM:610883 |
| Hypomagnesemia 2, Renal |
|
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia |
OMIM:154020 |
| Afibrinogenemia, Congenital |
|
Epistaxis, Subdural hemorrhage, Death in childhood, Death in infancy, Neonatal death, Death in ad... |
OMIM:202400 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephropathy, Streak ovary, Renal insufficiency, Cryptorchidism, Nephroblastoma, Hypospadias |
OMIM:194072 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Proteinuria, Renal amyloidosis, Renal insufficiency |
OMIM:134610 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Ketonuria, Dicarboxylic aciduria, Hyperammonemia, Renal tubular acidosis, Elevated circulating cr... |
OMIM:255120 |
| Leigh Syndrome |
|
Generalized aminoaciduria, Hepatic failure, Eczematoid dermatitis, Methylmalonic aciduria, Feedin... |
ORPHA:506 |
| Ververi-Brady Syndrome |
|
Clinodactyly of the 5th finger, Metaphyseal irregularity, Scoliosis, Transposition of the great a... |
OMIM:617982 |
| Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Failure to thrive, Intrauterine growth retardation, Vesicoureteral reflux, Pate... |
OMIM:618460 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... |
ORPHA:1788 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Cerebellar-Facial-Dental Syndrome |
|
Severe short stature, Infancy onset short-trunk short stature, Failure to thrive, Ureteropelvic j... |
ORPHA:444072 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Limb hyperton... |
OMIM:619909 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Thymoma, Type I diabetes mellitus, Xerostomia, Graves disease, Anterior pituitary dys... |
ORPHA:227982 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Arthrogryposis-like hand anomaly, Clinodactyly, Abnormal heart morphology, Patent foramen ovale, ... |
ORPHA:369891 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, Supernumerary nipple, Gastroparesis, Vesicoureteral reflux, Crypto... |
ORPHA:352665 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:600649 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, Supernumerary nipple, Gastroparesis, Vesicoureteral reflux, Crypto... |
ORPHA:453504 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
| Bainbridge-Ropers Syndrome |
|
Vomiting, Gastroesophageal reflux, Supernumerary nipple, Intestinal malrotation, Nasogastric tube... |
OMIM:615485 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... |
OMIM:620066 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Cryptorchidism, Pseudohypoparathyroidism, Abnormality of... |
ORPHA:464288 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatitis, Hypersplenism, Renal insufficiency, Splenomegaly, Gastritis, Neoplasm of the tongue, G... |
ORPHA:3261 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Absence of the sacrum, Butterfly vertebrae, Mitral... |
OMIM:617660 |
| Q Fever |
|
Pneumonia, Hepatitis, Respiratory distress, Osteomyelitis, Hepatosplenomegaly, Abnormality of the... |
ORPHA:781 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,... |
ORPHA:96334 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteomalacia, Cryptorchidism, Short neck, Abnormal metacarpal morphology, Abnormality of the kidn... |
ORPHA:2636 |
| Crimean-Congo Hemorrhagic Fever |
|
Diarrhea, Morbilliform rash, Nausea and vomiting, Hematuria, Erythema nodosum, Anorexia, Hepatome... |
ORPHA:99827 |
| Majeed Syndrome |
|
Failure to thrive, Malabsorption, Splenomegaly, Proteinuria, Glomerulopathy, Cachexia, Weight los... |
ORPHA:77297 |
| Ebstein Anomaly |
|
Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept... |
OMIM:224700 |
| Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Predominantly lower limb lymphedema, Clinodactyly, Upper eyelid edema, Patent foramen ... |
ORPHA:293939 |
| Hydrolethalus |
|
Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, Polyhydramnios, Anencephaly, Premature... |
ORPHA:2189 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal hypoplasia, Renal insufficiency, Cryptorchidism, Hypothyroidism, Hypoplasia of penis, Renal... |
ORPHA:85321 |
| Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Diarrhea, Vomiting, Hypernatriuria, Failure to thrive, Recurrent urinary t... |
ORPHA:361 |
| Degcags Syndrome |
|
Chronic kidney disease, Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Genu valgum, ... |
OMIM:619488 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Bifid uvula, Cervical myelopathy, Hypoplasia of the odontoid process, Kyphosis, At... |
OMIM:183900 |
| Burn-Mckeown Syndrome |
|
2-3 toe syndactyly, Hypomimic face, Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
| Myelofibrosis |
|
Hepatomegaly, Purpura, Pallor, Splenomegaly |
OMIM:254450 |
| Legionnaires Disease |
|
Renal insufficiency, Splenomegaly, Hyponatremia, Hematuria, Proteinuria, Pancreatitis, Myocarditi... |
ORPHA:549 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal hypoplasia, Renal agenesis, Hydrocephalus, Micropenis, Hypospadias |
ORPHA:171839 |
| Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Micromelia, Ventricular septal defect |
ORPHA:2772 |
| Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Gastrointestinal hemorrhage, Arteriovenous malformation, Finger s... |
ORPHA:974 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Proximal tubulopathy, Type 2 muscle fiber predominance, Organic aciduria, Skeletal muscle atrophy... |
OMIM:619743 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Dilation of Virchow-Robin spaces, Sandal gap, Camptodactyly of fin... |
OMIM:619951 |
| Dohle Bodies And Leukemia |
|
Secundum atrial septal defect, Lymphedema |
OMIM:223350 |
| Tetrasomy 9P |
|
Absent gallbladder, Cryptorchidism, Short neck, Jaundice, High palate, Renal dysplasia, Joint dis... |
ORPHA:3310 |
| C Syndrome |
|
Multicystic kidney dysplasia, Limitation of joint mobility, Joint dislocation, Dislocated radial ... |
ORPHA:1308 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hypertrophic cardiomyopathy... |
OMIM:201475 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Aspiration pneumonia, Urinary glycosaminoglycan excretion, Genu valgum... |
ORPHA:581 |
| Jacobsen Syndrome |
|
Webbed neck, Multicystic kidney dysplasia, Hip dislocation, Annular pancreas, Premature birth, Ab... |
ORPHA:2308 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Limb muscle weakness, Cardiomeg... |
OMIM:266500 |
| Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia, Dysphagia |
OMIM:618093 |
| Hyperoxaluria, Primary, Type I |
|
Nephrocalcinosis, Pathologic fracture, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated ur... |
OMIM:259900 |
| Tetraamelia Syndrome 1 |
|
Renal agenesis, Adrenal gland agenesis, Urethral atresia, Single umbilical artery, Hydrocephalus,... |
OMIM:273395 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short 5th finger, Short distal phalanx of finger, Long thumb, Ventricular septal defect, Triphala... |
OMIM:220500 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Rickets, Hyperphosphaturia, Osteomalacia |
ORPHA:89937 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Broad distal phalanx of finger, Postaxial foot polydactyly, Abnormal heart morphology, Ventricula... |
ORPHA:404440 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Diarrhea, Postnatal growth retardation, Polycystic ovaries, Increased body weight, Dysmenorrhea, ... |
ORPHA:79240 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Arteriovenous malformation, Hashimoto thyroiditis, Cachexia, Aortic aneurysm, Short stature, Intr... |
ORPHA:109 |
| Charge Syndrome |
|
Ventricular septal defect, Overriding aorta, Atrial septal defect, Absent radius, Bilateral talip... |
OMIM:214800 |
| Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Osteopenia, Joint hypermobility, Bowing of the long bones, Decreased calvarial oss... |
OMIM:616229 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
High, narrow palate, Ankle flexion contracture, Respiratory distress, Splenomegaly, Knee flexion ... |
OMIM:608799 |
| Geleophysic Dysplasia 1 |
|
Aortic valve stenosis, Platyspondyly, Joint contracture of the hand, Cone-shaped epiphysis, Short... |
OMIM:231050 |
| Houge-Janssens Syndrome 2 |
|
Unilateral renal agenesis, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:616362 |
| Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus |
ORPHA:1455 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Gastroesophageal reflux, Coarse metaphyseal trabecularization, Camp... |
ORPHA:2092 |
| Cystic Fibrosis |
|
Recurrent pneumonia, Biliary cirrhosis, Diarrhea, Meconium ileus, Exocrine pancreatic insufficien... |
OMIM:219700 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... |
ORPHA:2491 |
| Methylmalonic Aciduria, Cblb Type |
|
Vomiting, Ketonuria, Methylmalonic aciduria, Respiratory distress, Feeding difficulties in infanc... |
OMIM:251110 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Large for gestational age, Cryptorchidism, Lactose intolerance, Protuberant abdomen, Hypospadias |
ORPHA:457485 |
| Chromosome 10Q26 Deletion Syndrome |
|
2-3 toe cutaneous syndactyly, Congenital hip dislocation, Toe syndactyly, Prominent fingertip pad... |
OMIM:609625 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated third ventricle, Dilated fourth ventricle, Epispadias, Partial agenesis of the corpus cal... |
ORPHA:434179 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Ventricular septal defect, Postaxial polydactyly, Atrial septal defect, Hip dy... |
OMIM:614576 |
| Koolen-De Vries Syndrome |
|
Slender finger, Hip dislocation, Aortic root aneurysm, Prominent fingertip pads, Kyphosis, Sacral... |
OMIM:610443 |
| Pfeiffer Syndrome Type 3 |
|
Limitation of joint mobility, Tracheomalacia, Respiratory distress, Horseshoe kidney, Intestinal ... |
ORPHA:93260 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Chylothorax, Kyphosis, Lymphedema, Tetralogy of Fallot, Vent... |
OMIM:153400 |
| Developmental And Epileptic Encephalopathy 90 |
|
Limb hypertonia, Atrial septal defect |
OMIM:301058 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h... |
OMIM:616007 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Carious teeth, Dental malocclusion, Renal cyst, Scapular winging |
OMIM:615560 |
| Hamamy Syndrome |
|
Osteopenia, Cryptorchidism, Complete atrioventricular canal defect, Atrial septal defect, Hypopar... |
OMIM:611174 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Clinodactyly, Camptodactyly of finger, Elbow flexion contracture, Tibial torsion, Facial telangie... |
OMIM:602782 |
| Metachromatic Leukodystrophy, Adult Form |
|
Cholecystitis, Abdominal distention, Urinary incontinence, Neoplasm of the gallbladder, Bowel inc... |
ORPHA:309271 |
| Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Left ventricular hypertrophy, ... |
OMIM:209900 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Abnormality of the calcaneus, Atrioventricular canal defect,... |
ORPHA:40366 |
| Spondylo-Ocular Syndrome |
|
Platyspondyly, Ventricular septal defect, Short neck, Facial hypotonia, Abnormal intervertebral d... |
ORPHA:85194 |
| Pontocerebellar Hypoplasia, Type 2B |
|
Death in childhood, Death in infancy, Polyhydramnios, Dysphagia, Feeding difficulties, Poor suck |
OMIM:612389 |
| Odontochondrodysplasia |
|
Platyspondyly, Respiratory distress, Death in infancy, Joint hypermobility, Scoliosis |
ORPHA:166272 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Broad thumb, Short neck, Radial head subluxation, Advanced ossification of ... |
OMIM:615777 |
| Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
| Yao Syndrome |
|
Abdominal pain, Diarrhea, Weight loss, Nephrolithiasis |
OMIM:617321 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
| Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Pleural effusion, Pulmonary e... |
ORPHA:199241 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Elevated circulating hepatic transaminas... |
OMIM:614527 |
| Postaxial Oligodactyly, Tetramelic |
|
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... |
OMIM:176240 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Broad thumb, Scoliosis, Clinodactyly, Kyphosis, Tricuspid regurgitation, Sacral dimple, Patent fo... |
OMIM:616894 |
| Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Chronic... |
OMIM:232240 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Chronic kidney disease, Osteopenia, Dilated cardiomyopathy, Abnormal circulating selenium concent... |
ORPHA:79408 |
| Diamond-Blackfan Anemia 11 |
|
Finger aplasia, Absent thumb, Unilateral radial aplasia, Bicuspid aortic valve, Radioulnar synost... |
OMIM:614900 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
| Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
| Follicular Lymphoma |
|
Weight loss, Splenomegaly, Abnormal peritoneum morphology |
ORPHA:545 |
| Fanconi Anemia, Complementation Group B |
|
Abnormal vertebral morphology, Bilateral radial aplasia, Absent thumb, Ventricular septal defect,... |
OMIM:300514 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Pulmonary artery stenosis, Atrial septal defect, Postaxial hand polydactyly, Ventricular septal d... |
ORPHA:75389 |
| Interatrial Communication |
|
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... |
ORPHA:1478 |
| 2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Eczematoid dermatitis, Supernumerary nipple, Obesity, Abnormal aort... |
ORPHA:1001 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the radius, Skeletal muscle atrophy, Finger syndactyly, Absent hand, Aplasi... |
ORPHA:570 |
| Hand-Foot-Genital Syndrome |
|
Pyelonephritis, Renal insufficiency, Ureteropelvic junction obstruction, Vesicoureteral reflux, C... |
OMIM:140000 |
| Thoracoabdominal Syndrome |
|
Hypospadias, Renal agenesis, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia |
OMIM:313850 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent pneumonia, Multiple bladder diverticula, Peripheral pulmonary artery stenosis, Urethral... |
ORPHA:90349 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, Hydrops fetalis, Syndactyly |
OMIM:224120 |
| Aicardi-Goutières Syndrome |
|
Elevated circulating hepatic transaminase concentration, Moyamoya phenomenon, Hepatosplenomegaly,... |
ORPHA:51 |
| Familial Bicuspid Aortic Valve |
|
Thoracic aorta calcification, Aortic arch aneurysm, Coarctation of aorta, Ascending aortic dissec... |
ORPHA:402075 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Spinal rigidity, Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Calf muscle... |
OMIM:253800 |
| Sotos Syndrome |
|
Long metacarpals, Muscular ventricular septal defect, Genu valgum, Ventricular septal defect, Adv... |
OMIM:117550 |
| Ogden Syndrome |
|
Cardiogenic shock, Broad hallux, Ventricular septal defect, Pulmonary artery stenosis, Arrhythmia... |
ORPHA:276432 |
| Recombinant 8 Syndrome |
|
Camptodactyly of finger, Tetralogy of Fallot, Patellar aplasia, Bilateral single transverse palma... |
ORPHA:96167 |
| Bartter Syndrome Type 4 |
|
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Vomiting, Nasogastric tube feeding... |
ORPHA:89938 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus |
ORPHA:2183 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Aortic root aneurysm, Elbow dislocation, Prominent veins on trunk, Mitral valve prolapse, Arachno... |
ORPHA:536532 |
| Marden-Walker Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Radioulnar synostosis, Abnormality of the... |
ORPHA:2461 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Lymphocytic intersti... |
OMIM:245590 |
| Autosomal Recessive Robinow Syndrome |
|
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broad thumb, Elbow dislocation, Bi... |
ORPHA:1507 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Urinary incontinence, Cholecystitis, Abdominal distention |
ORPHA:309263 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Short neck, Drumstick terminal phalanges,... |
OMIM:612938 |
| Fibrochondrogenesis 2 |
|
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bone, Metaphyseal widenin... |
OMIM:614524 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Cornelia De Lange Syndrome 1 |
|
Cryptorchidism, Short neck, Dislocated radial head, High palate, Ectopic kidney, Hypospadias, Hig... |
OMIM:122470 |
| Cat Eye Syndrome |
|
Anal stenosis, Meckel diverticulum, Volvulus, Renal agenesis, Intestinal malrotation, Horseshoe k... |
OMIM:115470 |
| Hypomandibular Faciocranial Dysostosis |
|
Bifid uvula, Aplasia/Hypoplasia of the tongue, Death in infancy, Polyhydramnios, Craniosynostosis... |
ORPHA:1790 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Limitation of joint mobility, Smooth tongue, Camptodactyly of finger, Respiratory dis... |
ORPHA:3206 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch... |
ORPHA:99104 |
| Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Bicuspid aortic valve, Large hands, Abnormal cardiac septum morphology, Pat... |
OMIM:615009 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hepatic steatosis, Decreased body weight, Hematuria, Abdominal pain, Jaundice, Hypospadias, Dilat... |
OMIM:619475 |
| Bachmann-Bupp Syndrome |
|
Cryptorchidism, Decreased fetal movement, Feeding difficulties in infancy, Polyhydramnios, High p... |
OMIM:619075 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Small pituitary gland, Ventriculomegaly, Lateral ventricle dilatation, Micropenis, Hypospadias |
OMIM:619479 |
| Aase-Smith Syndrome I |
|
Slender finger, Flexion contracture, Talipes equinovarus, Ventricular septal defect |
OMIM:147800 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Nephropathy, Homocystinuria, Hypotension, Acute kidney injury, Methylmalonic aciduria, Cystathion... |
OMIM:277400 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Hypothyroidism, Hyperalaninemia, Increased serum pyruvate, Mild proteinuria |
OMIM:619147 |
| Nipah Virus Disease |
|
Respiratory distress, Nausea and vomiting, Anorexia, Recurrent pharyngitis |
ORPHA:99825 |
| Nasu-Hakola Disease |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:2770 |
| Ethylene Glycol Poisoning |
|
Vomiting, Abnormal pattern of respiration, Renal insufficiency, Renal tubular dysfunction, Episod... |
ORPHA:31826 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Renal hypoplasia, Ketonuria, Oligohydramnios, Hepatomegaly, High palate |
OMIM:619053 |
| Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary dopamine level, Diarrhea, Elevated urinary homovanillic acid, Failure to thrive,... |
OMIM:256700 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Diarrhea, Elevated circulating hepatic transaminase concentration, Protracted di... |
ORPHA:67 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation |
ORPHA:2148 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Reduced renal corticomedullary differentiation, Knee flexion contracture, W... |
OMIM:618733 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Nocturnal hypoventilation, Death in childhood, Ankle clonus, Dysphagia, Dys... |
OMIM:211530 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Pallor |
OMIM:613839 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Ventricular septal defect, Bicuspid aortic ... |
ORPHA:508498 |
| Yunis-Varon Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Cryptorchidism, Anterior concavity of thoraci... |
OMIM:216340 |
| Popliteal Pterygium Syndrome |
|
Intercrural pterygium, Popliteal pterygium, Cutaneous finger syndactyly, Cryptorchidism, Spina bi... |
OMIM:119500 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
| Cardiogenic Shock |
|
Hepatomegaly, Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
| Scrub Typhus |
|
Myocarditis, Splenomegaly, Renal insufficiency, Hyperhidrosis |
ORPHA:83317 |
| Insulin-Like Growth Factor I, Resistance To |
|
Small hand, Clinodactyly, Sandal gap, Short finger, Radial deviation of finger, Patent foramen ov... |
OMIM:270450 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Achilles tendon contracture |
ORPHA:2596 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Pancreatic hypoplasia, Umbilical hernia, Respiratory distress, Exocr... |
ORPHA:2255 |
| Noonan Syndrome 9 |
|
Ventricular septal defect, Coarctation of aorta, Short neck, Prolonged prothrombin time, Pulmonic... |
OMIM:616559 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... |
ORPHA:284169 |
| X-Linked Acrogigantism |
|
Pituitary adenoma, Abdominal distention, Increased circulating prolactin concentration, Hypopitui... |
ORPHA:300373 |
| Oculoauriculofrontonasal Syndrome |
|
Scoliosis, Ventricular septal defect |
ORPHA:398156 |
| Hemangioblastoma |
|
Neurogenic bladder, Hydrocephalus |
ORPHA:252054 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Joint contracture of the hand, Limitation of joint mobility, Broad long bones, Encephalocele, Bow... |
OMIM:224400 |
| Congenital Myopathy 9A |
|
Oligohydramnios, Death in infancy |
OMIM:618822 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hyperphosphatemia, Hydroxyprolinuria, Recurrent fractures, Hyperuricemia, Hydroxyprol... |
OMIM:239000 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Vomiting, Respiratory distress, Death in infancy, Tachypnea, Hepatomegaly |
OMIM:614299 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatic failure, Vomiting, 3-hydroxydicarboxylic aciduria, Splenomegaly, Feeding difficulties in ... |
OMIM:252010 |
| Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Growth delay, ... |
OMIM:614921 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Tachypnea, Nasal flaring, P... |
ORPHA:70587 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Finger syn... |
OMIM:620025 |
| Hypoglossia With Situs Inversus |
|
Microglossia, Polysplenia, Malnutrition, Respiratory distress, Feeding difficulties in infancy, A... |
OMIM:612776 |
| Hypoparathyroidism, X-Linked |
|
Congenital hypoparathyroidism |
OMIM:307700 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Internally rotated shoulders, Hip contracture, Ventricular septal defect, Thoracolumbar scoliosis... |
OMIM:619503 |
| Focal Myositis |
|
Weight loss, Elevated circulating creatine kinase concentration |
ORPHA:48918 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Polyhydramnios, Overlapping toe, Ankle clonus |
OMIM:618598 |
| Transcobalamin Deficiency |
|
Acute kidney injury, Methylmalonic aciduria |
ORPHA:859 |
| Pseudotrisomy 13 Syndrome |
|
Postaxial foot polydactyly, Complete atrioventricular canal defect, Ventricular septal defect, 2-... |
OMIM:264480 |
| Early-Onset Familial Hypoaldosteronism |
|
Vomiting, Failure to thrive, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Hy... |
ORPHA:556030 |
| Duplication Of The Pituitary Gland |
|
Abnormal odontoid process morphology, Encephalocele, Thoracic scoliosis, Abnormality of joint mob... |
ORPHA:314621 |
| Scalp-Ear-Nipple Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Lateral ventricle dilatation, Congestive heart failu... |
OMIM:181270 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Single transverse palmar crease, Ventricular septal defect, 2-3 toe syndactyly, Pulmonary arteria... |
OMIM:616449 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Elevated circulating creatine kinase concen... |
ORPHA:732 |
| Bardet-Biedl Syndrome 12 |
|
Hydroureter, Hypogonadism, Obesity, Hydronephrosis, Cystic renal dysplasia |
OMIM:615989 |
| Snakebite Envenomation |
|
Acute kidney injury, Hypopituitarism, Rhabdomyolysis, Hyponatremia, Muscle fiber necrosis |
ORPHA:449285 |
| Vici Syndrome |
|
Dilated cardiomyopathy, Cardiomyopathy, Penile hypospadias, Myopathy, Elevated circulating creati... |
OMIM:242840 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... |
OMIM:308940 |
| Joubert Syndrome 1 |
|
Nephropathy, Hepatic fibrosis, Protruding tongue, Renal cyst, Macroglossia |
OMIM:213300 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Abnormality of the ureter, Feeding difficulties, Aganglionic megacolon... |
ORPHA:3339 |
| Juvenile Paget Disease |
|
Coarse metaphyseal trabecularization, Cranial hyperostosis, Hyperuricemia, Osteoporosis, Recurren... |
ORPHA:2801 |
| North American Indian Childhood Cirrhosis |
|
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension |
OMIM:604901 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Pallor, Splenomegaly, Elevated hepatic iron concentration |
OMIM:615234 |
| Johanson-Blizzard Syndrome |
|
Elevated gamma-glutamyltransferase level, Cryptorchidism, Elevated circulating alanine aminotrans... |
OMIM:243800 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect, Postaxial hand ... |
ORPHA:2519 |
| Hepatoerythropoietic Porphyria |
|
Osteopenia, Red-brown urine, Purple urine, Splenomegaly, Red urine, Nonimmune hydrops fetalis, Ab... |
ORPHA:95159 |
| Gorham-Stout Disease |
|
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Osteolysis involving bones... |
ORPHA:73 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
| Pyle Disease |
|
Limited elbow extension, Reduced bone mineral density, Thin bony cortex |
OMIM:265900 |
| Familial Dysautonomia |
|
Recurrent fractures, Renal insufficiency, Hyponatremia, Glomerulopathy, Hypohidrosis, Hyperhidros... |
ORPHA:1764 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... |
OMIM:610913 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRCT, Decreased response to growth... |
OMIM:610978 |
| Thyroid Ectopia |
|
Lingual thyroid, Constipation, Dysphagia, Abdominal distention, Short stature, Jaundice, Growth d... |
ORPHA:95712 |
| Systemic Sclerosis |
|
Chronic kidney disease, Acute kidney injury, Osteomyelitis, Renal insufficiency, Elevated circula... |
ORPHA:90291 |
| Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
| Kyphomelic Dysplasia |
|
Platyspondyly, Radial bowing, Flared metaphysis, Micromelia, Dumbbell-shaped humerus, Femoral bow... |
OMIM:211350 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Atlantoaxial instability, Umbilical hernia, Large joint hypermobilty, Cleft soft pala... |
OMIM:614557 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Gastroesophageal reflux, Annular pancreas, Furrowed tongue, Vesicoureteral reflux, Cryptorchidism... |
OMIM:616975 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Periodontitis, Dilatation of the cerebral artery, Cystocele, Cryptorchidism, Descending aortic di... |
OMIM:130050 |
| Dysbetalipoproteinemia |
|
Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Obesity, Peripheral art... |
ORPHA:412 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatic failure, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Hypocalcemia, Hepatomegaly |
OMIM:259720 |
| Galloway-Mowat Syndrome 10 |
|
Congenital hypothyroidism, Stage 5 chronic kidney disease, Podocyte foot process effacement, Prot... |
OMIM:619609 |
| Gabriele-De Vries Syndrome |
|
Hydronephrosis, Ureteropelvic junction obstruction, Lateral ventricle dilatation |
OMIM:617557 |
| Laryngotracheal Angioma |
|
Vomiting, Intercostal retractions, Respiratory distress, Apnea, Feeding difficulties |
ORPHA:137935 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia |
OMIM:619051 |
| Ulnar Hypoplasia |
|
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... |
OMIM:191440 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Finger aplasia, Absent thumb, Proximal radial head dislocation, Hypoplasia of the radius, Aplasia... |
OMIM:602418 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Irregular respiration, Hepatomegaly, High palate, Feeding... |
OMIM:604377 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
| Alternating Hemiplegia Of Childhood |
|
Diarrhea, Abdominal distention, Vomiting, Oral-pharyngeal dysphagia, Respiratory distress, Apnea,... |
ORPHA:2131 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Fetal distress, Respiratory distress, Decreased fetal movement, Abdominal pain, Dysphagia, Feedin... |
OMIM:620166 |
| Kagami-Ogata Syndrome |
|
Webbed neck, Limitation of joint mobility, Large placenta, Kyphoscoliosis, Hepatoblastoma, Short ... |
ORPHA:254519 |
| Lysinuric Protein Intolerance |
|
Aminoaciduria, Hyperlysinuria, Skeletal muscle atrophy, Increased circulating ferritin concentrat... |
OMIM:222700 |
| Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Ventricular septal defect, Atrial septal defect, Mes... |
ORPHA:97360 |
| Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Single transverse palmar crease, Ventricular septal defect, 2-3 toe syndacty... |
OMIM:613398 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Broad thumb, Secundum atrial septal defect, Clinodactyly, Long hallux, Hallux valgus |
OMIM:620194 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Mitochondrial swelling, Abnormal heart morphology, Hypertrophic cardiomyopathy, Stage 5 chronic k... |
OMIM:618250 |
| Arachnoiditis |
|
Hydrocephalus, Urinary bladder sphincter dysfunction |
ORPHA:137817 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
ORPHA:2701 |
| Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Broad femoral neck, Bowing of the legs, Ventricular septal defect, 2-3 toe syndactyly... |
OMIM:617164 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Distal urethral duplication, Vesicoureteral reflux, Renal hypoplasia/aplasia, Ectopic anus, Aplas... |
ORPHA:2549 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Dpagt1-Cdg |
|
Anasarca, Decreased fetal movement, Fetal akinesia sequence, Camptodactyly, Hepatomegaly, Osteopo... |
ORPHA:86309 |
| Elliptocytosis 1 |
|
Jaundice, Pallor, Splenomegaly |
OMIM:611804 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... |
OMIM:277000 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Ankle flexion contracture, Congenital hip dislocation, Aspiration pneumonia, Elbow flexion contra... |
ORPHA:2020 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic valve stenosis, Tetralogy of Fallot, Conotruncal defect, Cryptorchidism, Renal insufficien... |
ORPHA:96147 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatic failure, Micronodular cirrhosis, Aspiration pneumonia, Splenomegaly, Seborrheic dermatiti... |
OMIM:301072 |
| Distal Deletion 6P |
|
Abnormal epiphysis morphology, Vertebral segmentation defect, Talipes equinovarus, Atrial septal ... |
ORPHA:96125 |
| Serotonin Syndrome |
|
Acute kidney injury, Nausea, Hepatic failure, Diarrhea |
ORPHA:43116 |
| Acro-Renal-Ocular Syndrome |
|
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Aplasia/Hypoplasia of the r... |
ORPHA:959 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Oligohydramnios, Clinodactyly of the 5th finger, Patent foramen ovale, Ventricular septal defect,... |
OMIM:620113 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Gastroesophageal reflux, Aortic aneurysm, Feeding difficulties in infancy, Cryptorchidism |
OMIM:182212 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Stage 5 chronic kidney disease, Prote... |
OMIM:136680 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Ventriculomegaly, Decreased thalamic volume, Occipital encephalocele, Cardiomyopathy, Dilated fou... |
ORPHA:370959 |
| Buratti-Harel Syndrome |
|
Broad thumb, Dilation of Virchow-Robin spaces, Broad hallux, Atrial septal defect, Clinodactyly o... |
OMIM:619314 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short distal phalanx of finger, Horseshoe kidney, Renal cyst, Metaphyseal chondrodysplasia, Brach... |
OMIM:250410 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Long hallux, Arachnodactyly, Short neck, Short foot, Knee flexion contracture, Hydrocele testis, ... |
OMIM:613776 |
| Prader-Willi Syndrome Due To Translocation |
|
Lateral ventricle dilatation, Decreased response to growth hormone stimulation test, Oligohydramn... |
ORPHA:177907 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Horseshoe kidney, Crossed fus... |
ORPHA:3097 |
| Restrictive Dermopathy 2 |
|
Gastroesophageal reflux, Fetal distress, Respiratory distress, Decreased fetal movement, Rectal p... |
OMIM:619793 |
| Familial Hypocalciuric Hypercalcemia |
|
Peptic ulcer, Hypocalciuria, Chondrocalcinosis, Hypomagnesiuria, Osteomalacia, Nausea and vomitin... |
ORPHA:405 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Platyspondyly, Metaphyseal cupping, Scoliosis, Rhizomelia, Flared metaphysis, Short finger, Femor... |
OMIM:608940 |
| Short Stature And Facioauriculothoracic Malformations |
|
Short neck, Abnormal odontoid process morphology, Ventricular septal defect |
OMIM:609654 |
| Fanconi Anemia, Complementation Group Q |
|
Esophageal atresia, Anteriorly placed anus, Biliary atresia |
OMIM:615272 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:163961 |
| Ck Syndrome |
|
Abnormal cortical bone morphology, Joint hypermobility |
OMIM:300831 |
| Lambotte Syndrome |
|
Preaxial foot polydactyly, Ventricular septal defect |
OMIM:245552 |
| Loeys-Dietz Syndrome 1 |
|
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor... |
OMIM:609192 |
| Ellis Van Creveld Syndrome |
|
Short distal phalanx of finger, Abnormal pelvic girdle bone morphology, Synostosis of carpal bone... |
ORPHA:289 |
| Pseudopseudohypoparathyroidism |
|
Osteoporosis, Pseudohypoparathyroidism |
OMIM:612463 |
| Cryptococcosis |
|
Pneumonia, Vomiting, Respiratory distress, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleu... |
ORPHA:1546 |
| Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Splenomegaly, Weight loss, Hepatomegaly, Abdominal pain |
ORPHA:33577 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Block vertebrae, Abnormal pelvic girdle bone morphology, Hypoplasia of the ... |
OMIM:272460 |
| Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Hepatic failure, Gastrointestinal hemorrhage, Tongue telangiectasia, Portal hyper... |
ORPHA:774 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Broad long bones, Short neck, Broad phalanx, Short metacarpal... |
OMIM:271665 |
| Seckel Syndrome 9 |
|
Pulmonary artery hypoplasia, Recurrent urinary tract infections, Decreased fetal movement, Polyhy... |
OMIM:616777 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Persistence of primary teeth, Atrial septal defect, Ventricular septal ... |
OMIM:619769 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Scleritis, Anorexia, Tubulointerstitial nephritis, Elevated circulating C-reactive protein concen... |
ORPHA:91500 |
| Pallister-Killian Syndrome |
|
Supernumerary nipple, Delayed cranial suture closure, Cryptorchidism, Short neck, Anal atresia, H... |
OMIM:601803 |
| Filippi Syndrome |
|
Finger syndactyly, Bilateral single transverse palmar creases, Ventricular septal defect, Clinoda... |
ORPHA:3255 |
| Argininemia |
|
Portal fibrosis, Vomiting, Micronodular cirrhosis, Cholestasis, Oroticaciduria, Postnatal growth ... |
OMIM:207800 |
| Meningococcal Meningitis |
|
Elevated circulating C-reactive protein concentration, Increased circulating procalcitonin concen... |
ORPHA:33475 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Radial club hand, Renal insufficiency |
ORPHA:2165 |
| Fraser Syndrome |
|
Anal stenosis, Abnormality of the urinary system, Abnormal lung lobation, Myelomeningocele, Umbil... |
ORPHA:2052 |
| Late-Onset Familial Hypoaldosteronism |
|
Vomiting, Failure to thrive, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Hy... |
ORPHA:556037 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Aplasia/Hypoplasia involving the pelvis, Broad long bones, Hypoplastic pelvis, Abnormal metatarsa... |
ORPHA:163654 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Tetralogy of Fallot, Abnormality of the urinary system, Patent ductus arteriosus, Anomalous pulmo... |
ORPHA:2184 |
| Acrofacial Dysostosis 1, Nager Type |
|
Toe syndactyly, Clinodactyly, Overlapping toe, Congenital diaphragmatic hernia, Ventricular septa... |
OMIM:154400 |
| Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Respiratory distress, Oligohydramnios, Cholecystitis, Splenomegaly, Death in infa... |
OMIM:615512 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Short 5th finger, Small hand, Toe syndactyly, Single transverse palmar crease, Ventricular septal... |
OMIM:610759 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Anemic pallor, Edema |
ORPHA:329971 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Arthrogryposis multiplex congenita, Patent foramen ovale, Ventricular septal defect, Talipes equi... |
OMIM:614961 |
| Tularemia |
|
Respiratory distress, Pneumonia, Pleural effusion |
ORPHA:3392 |
| 7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Clinodactyly of the 2nd finger, Prominent fingertip pads, Atrial septal ... |
ORPHA:251061 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Increased muscle glycogen content, Splenomegaly, Hyperuricemia |
OMIM:261750 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Webbed neck, Polyhydramnios, Cryptorchidism, Joint hypermobility, Cubitus valgus, Short neck, Dup... |
OMIM:607721 |
| Splenoportal Vascular Anomalies |
|
Splenomegaly, Diabetes mellitus, Hyperammonemia |
OMIM:271500 |
| Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Weight loss, Chronic diarrhea, Poor appetite |
ORPHA:2221 |
| Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... |
ORPHA:922 |
| Adenohypophysitis |
|
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... |
ORPHA:95512 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Persistent ... |
OMIM:618775 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Diarrhea, Abdominal pain, Intestinal perforation, Pleural empyema, Acute kidney injury, Anuria, G... |
ORPHA:544482 |
| Solitary Fibrous Tumor |
|
Urinary retention, Hypophosphatemic rickets, Neoplasm of the liver, Constipation, Reduced C-pepti... |
ORPHA:2126 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
| Fraser Syndrome 1 |
|
Renal hypoplasia, Myelomeningocele, Abnormal small intestine morphology, Laryngeal stenosis, Cryp... |
OMIM:219000 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Microphallus, Supernumerary nipple, Vesicoureteral reflux, Cryptorchidism, Hydr... |
OMIM:618454 |
| Cornelia De Lange Syndrome |
|
Small hand, Toe syndactyly, Short 1st metacarpal, Delayed eruption of teeth, Micromelia, Elbow di... |
ORPHA:199 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Hydroureter, Recurrent otitis media, Cryptorchidism, Aortic aneurysm, Constipation, Feeding diffi... |
OMIM:620450 |
| Lissencephaly Due To Lis1 Mutation |
|
Polyhydramnios, Scoliosis, Feeding difficulties, Aspiration pneumonia |
ORPHA:95232 |
| 1Q44 Microdeletion Syndrome |
|
Ventriculomegaly, Horseshoe kidney, Vesicoureteral reflux, Agenesis of corpus callosum, Hydroceph... |
ORPHA:238769 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Flat acetabular roof, Protuberant abdomen |
OMIM:617102 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Finger syndactyly, Micromelia, Tetralogy of Fallot, Situs inversus totalis, Ventricular septal de... |
ORPHA:1908 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Urolithiasis, Renal insufficiency, Cryptorchidism, Hyperuricemia, Gout, Hyperuricosuria, Uric aci... |
OMIM:300661 |
| Acute Adrenal Insufficiency |
|
Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insufficiency, Renal in... |
ORPHA:95409 |
| B4Galt1-Cdg |
|
Dandy-Walker malformation, Hydrocephalus, Edema |
ORPHA:79332 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Cerebral ischemia, Arrhythmia, Telangiectasia of the skin, Hydrocephalus |
ORPHA:60040 |
| Scalp-Ear-Nipple Syndrome |
|
Duplication of renal pelvis, Recurrent urinary tract infections, Breast aplasia, Pyelonephritis, ... |
ORPHA:2036 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi... |
ORPHA:79106 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Webbed neck, Chylothorax, Lymphedema, Hepatosplenomegaly, Cryptorchidism, Splenomegaly, Joint hyp... |
OMIM:613563 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Polyhydramnios, Overlapping toe, Umbilical hernia, Prominent metopic ridge |
OMIM:620475 |
| Panhypophysitis |
|
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... |
ORPHA:95513 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Feeding difficulties |
ORPHA:157973 |
| Coccidioidomycosis |
|
Pneumonia, Abnormality of the vertebral column, Respiratory distress, Exudative pleural effusion,... |
ORPHA:228123 |
| Refractory Anemia With Excess Blasts |
|
Retinal hemorrhage, Anemic pallor, Palpitations, Pedal edema |
ORPHA:86839 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Weaver Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation |
OMIM:277590 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormal lung lobation, Abnormality of the wrist, Cryptorchidism, Anal atresia, Aplasia/Hypoplasi... |
ORPHA:2063 |
| Cohen Syndrome |
|
Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Mitral valve prolapse, ... |
ORPHA:193 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida |
OMIM:207950 |
| Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
| Histidinemia |
|
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia |
OMIM:235800 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Toe syndactyly, Dilation of Virchow-Robin spaces, Broad thumb, Single transverse palmar crease, B... |
OMIM:619720 |
| Hajdu-Cheney Syndrome |
|
Decreased skull ossification, Short neck, Patellar dislocation, Hepatomegaly, Hypospadias, Osteop... |
ORPHA:955 |
| Galloway-Mowat Syndrome 4 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... |
OMIM:617730 |
| Oculopharyngodistal Myopathy |
|
Weight loss, Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia |
ORPHA:98897 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Webbed neck, Peripheral pulmonary artery stenosis, Bifid uvula, Cryptorchidism, Chronic constipat... |
OMIM:617506 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su... |
OMIM:620642 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:618321 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Failure to thrive, Cholestasis, Hepatic steatosis, Coarctation of aorta, Elevate... |
OMIM:614300 |
| Omodysplasia 1 |
|
Rhizomelia, Short tibia, Limited elbow flexion, Limited elbow extension, Short humerus, Ventricul... |
OMIM:258315 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Renal agenesis, Horseshoe kidney, Cryptorchidism, Renal duplication, Tracheoeso... |
OMIM:227646 |
| Rere-Related Neurodevelopmental Syndrome |
|
Abnormal heart morphology, Hip dysplasia, Scoliosis, Ventricular septal defect |
ORPHA:494344 |
| Hereditary Elliptocytosis |
|
Cholelithiasis, Splenomegaly, Abdominal pain, Prolonged neonatal jaundice, Jaundice, Hydrops fetalis |
ORPHA:288 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
| Oxoglutaric Aciduria |
|
Abnormal urine alpha-ketoglutarate concentration, Hydrocephalus |
ORPHA:31 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation, Feeding ... |
ORPHA:314655 |
| Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Bronchitis, Interlobular septal thickening, Subpleural interstitial thic... |
ORPHA:60025 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv... |
OMIM:268310 |
| Microscopic Polyangiitis |
|
Oliguria, Renal insufficiency, Hematuria, Glomerulopathy, Pancreatitis, Arthritis, Pericarditis |
ORPHA:727 |
| Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Secundum atrial septal defect, Short toe, Sandal gap, Preaxial hand polydac... |
OMIM:620072 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuri... |
OMIM:254900 |
| Noonan Syndrome |
|
Abnormal bleeding, Bruising susceptibility, Abnormal EKG, Hypertrophic cardiomyopathy, Lymphedema... |
ORPHA:648 |
| Methylcobalamin Deficiency Type Cble |
|
Ventriculomegaly, Glomerulopathy, Hydrocephalus, Hypertension, Hemolytic-uremic syndrome |
ORPHA:2169 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
| Acquired Central Diabetes Insipidus |
|
Weight loss, Pollakisuria |
ORPHA:95626 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Carious teeth, Natal tooth, Micrognathia, Patent foramen ovale, Atrial septal defect, Facial pals... |
OMIM:620186 |
| Congenital Sialidosis Type 2 |
|
Abnormal EKG, Ascites, Telangiectasia, Hydrocephalus, Abnormality of the kidney, Edema |
ORPHA:93400 |
| Distal Duplication 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Eczematoid dermatitis, Hypospadias, Cryptorchidism |
ORPHA:96097 |
| Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Cortical thickening of long b... |
ORPHA:1310 |
| Juvenile Polyposis Of Infancy |
|
Midclavicular hypoplasia, Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Abnorma... |
ORPHA:79076 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Abnormal lung lobation, Anencephaly, Hydronephrosis, Adrenal gland dysgenesis, ... |
OMIM:236680 |
| Coffin-Siris Syndrome 4 |
|
Short 5th finger, Pulmonary artery atresia, Mitral atresia, Ventricular septal defect, Prominent ... |
OMIM:614609 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Vomiting, Rickets, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia... |
ORPHA:411629 |
| Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Broad thumb, Decreased muscle mass, Elbow contracture, Finger clinoda... |
OMIM:617137 |
| Hyperaldosteronism, Familial, Type I |
|
Decreased circulating renin level |
OMIM:103900 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology |
ORPHA:166277 |
| Immunodeficiency 23 |
|
Allergic rhinitis, Aortic root aneurysm, Eczematoid dermatitis, Failure to thrive, Chronic mucocu... |
OMIM:615816 |
| Gitelman Syndrome |
|
Focal segmental glomerulosclerosis, Enuresis, Chondrocalcinosis, Diarrhea, Respiratory distress, ... |
ORPHA:358 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
| Refsum Disease |
|
Renal insufficiency, Splenomegaly, Cardiomyopathy, Skeletal muscle atrophy |
ORPHA:773 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Pleural effusion, Micropenis, Hydrocephalus, Dandy-Walker malformation, Pericar... |
OMIM:617822 |
| Porphyria Variegata |
|
Chronic kidney disease, Proximal muscle weakness in upper limbs, Increased urinary porphobilinoge... |
ORPHA:79473 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:109120 |
| Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He... |
ORPHA:227990 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short 5th finger, Hip dislocation, Short tibia, Short thumb, Tibial deviation of toes, Acetabular... |
OMIM:268305 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Nephropathy, Chronic kidney disease, Gastroesophageal reflux, Vomiting, Failure to thrive, Nasoga... |
ORPHA:1018 |
| Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Conjunctivitis, Elevated circulating uroporphyrin concentration, Reduced erythroc... |
OMIM:263700 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Nasofrontal encephalocele, Ventriculomegaly, Small pituitary gland, Hydrocephalus |
OMIM:614195 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Patellar hypoplasia, Oligohydramnios, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hyp... |
OMIM:617604 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hydrocephalus |
OMIM:601794 |
| Malignant Hyperthermia Of Anesthesia |
|
Cardiomyocyte mitochondrial proliferation, Acute kidney injury, Hyperphosphatemia, Necrotizing my... |
ORPHA:423 |
| Multiple Sulfatase Deficiency |
|
Increased CSF protein concentration, Ventriculomegaly, Mucopolysacchariduria, Hydrocephalus, Peri... |
OMIM:272200 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Bladder diverticulum, Peripheral pulmonary artery stenosis, Vascular tortuosity, Ascending tubula... |
OMIM:219100 |
| Fanconi Anemia, Complementation Group N |
|
Absent thumb, Short thumb, Ventricular septal defect, Short neck, Hypoplasia of the radius, Atria... |
OMIM:610832 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
| Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
| Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly |
OMIM:306000 |
| Campomelic Dysplasia |
|
Small abnormally formed scapulae, Hip dislocation, Kyphosis, Tracheomalacia, Femoral bowing, Tibi... |
ORPHA:140 |
| Meckel Syndrome 12 |
|
Bifid uvula, Renal hypoplasia, Arthrogryposis multiplex congenita, Bilateral renal agenesis, Olig... |
OMIM:616258 |
| Kabuki Syndrome 2 |
|
Short 5th finger, Natal tooth, Prominent fingertip pads, Atrioventricular canal defect, Coarctati... |
OMIM:300867 |
| Sheehan Syndrome |
|
Secondary growth hormone deficiency, Breast hypoplasia, Panhypopituitarism, Palpitations, Dry ski... |
ORPHA:91355 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hematochezia, Diarrhea, Vomiting, Hypomagnesemia, Malabsorption, Hypocalcemia, Hypokalemia, Cache... |
OMIM:175500 |
| Amelogenesis Imperfecta, Type Ig |
|
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis |
OMIM:204690 |
| Immunodeficiency 96 |
|
Recurrent otitis media, Multicystic kidney dysplasia, Growth delay, Eczematoid dermatitis |
OMIM:619774 |
| Niemann-Pick Disease Type C |
|
Fetal ascites, Hepatic failure, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Abnormality of... |
ORPHA:646 |
| Temple Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrocephalus |
ORPHA:254516 |
| Cimdag Syndrome |
|
Hepatomegaly, Cholelithiasis, Feeding difficulties, Microvesicular hepatic steatosis |
OMIM:619273 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Agenesis of corpus callosum, Hydrocephalus, Abnormality of the kidney, Tub... |
ORPHA:459061 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Broad thumb, Hyperextensibility of the finger joints, Ventricular septal defect, Arachnodactyly, ... |
OMIM:309520 |
| Noonan Syndrome 3 |
|
Bruising susceptibility, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal d... |
OMIM:609942 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Ciliary d... |
OMIM:606763 |
| Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Rickets,... |
OMIM:309000 |
| Cardiospondylocarpofacial Syndrome |
|
Cone-shaped epiphysis, Carpal synostosis, Muscular ventricular septal defect, Tarsal synostosis, ... |
OMIM:157800 |
| Fg Syndrome Type 1 |
|
Finger syndactyly, Clinodactyly of the 2nd finger, Abnormal thumb morphology, Mitral valve prolap... |
ORPHA:93932 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal renal collecting system morphology, Gastroesophageal reflux, Methylmalonic aciduria, Vom... |
ORPHA:17 |
| Cockayne Syndrome Type 3 |
|
Vascular calcification, Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic... |
ORPHA:90324 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Ventriculomegaly, Colpocephaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:620156 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Spinal canal stenosis, Atrial septal defect, Pulmonic stenosis |
OMIM:618282 |
| Fatal Familial Insomnia |
|
Constipation, Dysphagia, Urinary retention, Weight loss |
OMIM:600072 |
| Marshall Syndrome |
|
Platyspondyly, Hypoplastic ilia, Radial bowing, Irregular femoral epiphysis, Clinodactyly of the ... |
OMIM:154780 |
| Cronkhite-Canada Syndrome |
|
Diarrhea, Malabsorption, Splenomegaly, Cachexia, Anorexia, Hepatomegaly, Abdominal pain |
ORPHA:2930 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Myogl... |
OMIM:620300 |
| Dural Sinus Malformation |
|
Myelopathy, Subdural hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Hydrocephalus, C... |
ORPHA:97339 |
| Tangier Disease |
|
Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Facial diplegia, Left ventricu... |
ORPHA:31150 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Recurrent fractures |
OMIM:268315 |
| Choanal Atresia |
|
Tracheomalacia, Respiratory distress, Subglottic stenosis, Craniosynostosis, Recurrent respirator... |
ORPHA:137914 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Secundum atrial septal defec... |
OMIM:618109 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Hypocalcemic tetany, Decreased testicular size, Abnormal circulating follicle-... |
ORPHA:93325 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Abnormal mitral valve morphology, Brachydactyly, Atrial septal defect, Clinodactyly of the 5th fi... |
ORPHA:1292 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... |
OMIM:615751 |
| Erythrokeratodermia Variabilis |
|
Weight loss, Abnormal testis morphology |
ORPHA:317 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Splenomegaly, Hyperuricemia, Po... |
ORPHA:79083 |
| Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Diarrhea, Weight loss |
ORPHA:33276 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Broad thumb, Bilateral single transverse palmar creases, Ventricular septal defect, Brachydactyly... |
ORPHA:1770 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy... |
OMIM:600001 |
| Nephrolithiasis, Calcium Oxalate, 1 |
|
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Subdural hemorrhage, Bladder diverticulum, Aortic aneurysm, Cerebral hemorrhage, Short stature, A... |
ORPHA:536545 |
| Colchicine Poisoning |
|
Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosp... |
ORPHA:31824 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Dysphagia |
ORPHA:240103 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Multicystic kidney dysplasia, Hydromyelia, Ventriculomegaly, Occipital encephalocele, Agenesis of... |
OMIM:615287 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Pneumonia, Abnormal penis morphology, Acute kidney injury, Moderate albuminuria, Xerostomia, Diar... |
ORPHA:95455 |
| Catel-Manzke Syndrome |
|
Hyperphalangy of the 2nd finger, Short toe, Ulnar deviation of the 2nd finger, Genu valgum, Short... |
OMIM:616145 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic root aneurysm, Aortic atherosclerotic lesion, Papillary renal cell carcinoma, Abnormality ... |
ORPHA:363618 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Hypopituitari... |
ORPHA:91350 |
| Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Diastasis recti, Abnormal renal tubule morphology, Flexion contracture, Arth... |
ORPHA:440713 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal left ventricle morphology, Malar flattening, Patent foramen ovale, Ventricular septal de... |
ORPHA:466791 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Aortic root aneurysm, Failure to thrive in infancy, Intrauterine growth retardation, Chordee, Fee... |
OMIM:618891 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Short femoral neck, Flared metaphysis, Short palm, Aplasia/Hypoplasia of metatarsal bones, Joint ... |
ORPHA:2502 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
| Goodpasture Syndrome |
|
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... |
OMIM:233450 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Cachexia, Methylmalonic aciduria, Elevated circulating creatine kinase concentration |
ORPHA:1933 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communicating hydroce... |
OMIM:615219 |
| Marshall-Smith Syndrome |
|
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ventricular septal defect, Prematur... |
OMIM:602535 |
| Japanese Encephalitis |
|
Genu recurvatum, Diarrhea, Vomiting, Abnormal pattern of respiration, Respiratory distress, Stiff... |
ORPHA:79139 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Rhizomelia, Clinodactyly, Single transverse palmar crease, Ventricular sept... |
OMIM:614114 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Death in infancy, Poly... |
OMIM:618922 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Poor appetite |
ORPHA:312 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
| Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
| Van Den Ende-Gupta Syndrome |
|
Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Arachnodactyl... |
OMIM:600920 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Juvenile Polyposis Syndrome |
|
Anemia, Hypoproteinemia, Brain abscess |
ORPHA:2929 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Increased nuchal translucency, Secundum atrial septal defect |
OMIM:620183 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Slender finger, Preaxial hand polydactyly, Ventricular septal defect, Atrial septal defect, Proxi... |
OMIM:610536 |
| Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
| Trisomy 8P |
|
Bifid uvula, Malrotation of small bowel, Nephrocalcinosis, Annular pancreas, Cryptorchidism, Hydr... |
ORPHA:264450 |
| Grant Syndrome |
|
Joint hypermobility, Abnormal cortical bone morphology, Decreased skull ossification |
ORPHA:2097 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| 1P36 Deletion Syndrome |
|
Gastroesophageal reflux, Annular pancreas, Failure to thrive, Tetralogy of Fallot, Abnormality of... |
ORPHA:1606 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Biliary cirrhosis, Elevated circulating hepatic transaminase concent... |
OMIM:613471 |
| Turnpenny-Fry Syndrome |
|
Aortic regurgitation, Small hand, Clinodactyly, Overlapping toe, Lumbar hyperlordosis, Polyhydram... |
OMIM:618371 |
| Humeroradial Synostosis |
|
Renal insufficiency, Humeroradial synostosis |
OMIM:236400 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Tracheomalacia, Anteriorly placed anus, Respiratory distress, Cryptorchidism, Short neck, Hypospa... |
OMIM:217980 |
| Exercise-Induced Malignant Hyperthermia |
|
Acute kidney injury, Hepatic failure, Oliguria, Hyperphosphatemia, Decreased liver function, Vomi... |
ORPHA:466650 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Short foot, Hip dislocat... |
ORPHA:93357 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Patent ductus arteriosus, Brachydactyly, Atrial septal defect, Ventricular septal defect |
ORPHA:457193 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease, Rickets |
OMIM:219900 |
| Adult-Onset Still Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co... |
ORPHA:829 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Hip dysplasia, Scoliosis... |
ORPHA:261250 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... |
OMIM:203330 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Bifid uvula, Nephrocalcinosis, Submucous cleft hard palate, Joint hypermobility, Short neck, Hype... |
OMIM:300990 |
| Spondyloenchondrodysplasia |
|
Chronic kidney disease, Vasculitis, Ventriculomegaly, Decreased response to growth hormone stimul... |
ORPHA:1855 |
| Enamel-Renal Syndrome |
|
Nephropathy, Nephrocalcinosis, Abnormal circulating calcium-phosphate regulating hormone concentr... |
ORPHA:1031 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Cryptorchidism, Mild fetal ventriculomegaly, Chordee, Anterior pituitary hypoplasia, Hypospadias,... |
OMIM:619841 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Episodic Ataxia Type 1 |
|
Respiratory distress, Nausea, Scoliosis, Kyphoscoliosis |
ORPHA:37612 |
| Krabbe Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:245200 |
| Fetal Alcohol Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia, Vertebral segmentation defect |
ORPHA:1915 |
| Cranioectodermal Dysplasia 3 |
|
Peripheral pulmonary artery stenosis, Nephronophthisis, Stage 5 chronic kidney disease, Joint hyp... |
OMIM:614099 |
| Houge-Janssens Syndrome 3 |
|
Muscular ventricular septal defect, Atrial septal defect, Single transverse palmar crease |
OMIM:618354 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypopituitarism, Pallor |
OMIM:600462 |
| X-Linked Agammaglobulinemia |
|
Hepatitis, Failure to thrive, Malabsorption, Hypocalcemia, Weight loss, Chronic diarrhea |
ORPHA:47 |
| Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalce... |
ORPHA:94090 |
| Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Ectopic ossification, Hyperphosphatemia, Elevated circul... |
ORPHA:79444 |
| Peho Syndrome |
|
Ventriculomegaly, Peripheral edema, Hydrocephalus, Palpebral edema, Pedal edema |
ORPHA:2836 |
| Griscelli Syndrome |
|
Ascites, Encephalocele, Hydrocephalus, Pedal edema |
ORPHA:381 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Abnormal heart morphology, Abnorm... |
ORPHA:322 |
| Ring Chromosome 12 Syndrome |
|
Symphalangism of the thumb, Secundum atrial septal defect, Clinodactyly, Lumbar hyperlordosis, Ab... |
ORPHA:1439 |
| Non-Functioning Pituitary Adenoma |
|
Secondary growth hormone deficiency, Hypotension, Hypopituitarism, Decreased response to growth h... |
ORPHA:91349 |
| Diets-Jongmans Syndrome |
|
Umbilical hernia, Cryptorchidism, Joint hypermobility, Feeding difficulties in infancy, Breech pr... |
OMIM:618846 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Congestive heart failure, Hypertrophic cardiomyopathy, Kyphoscoliosis, T... |
OMIM:617403 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Elevated gamma-glutamyltransferase level, Exocrine pancreatic insufficiency, Absent gallbladder, ... |
OMIM:618500 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Costello Syndrome |
|
Webbed neck, Premature birth, Tracheomalacia, Poor suck, Hyperextensibility of the finger joints,... |
OMIM:218040 |
| Double Outlet Left Ventricle |
|
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... |
ORPHA:3427 |
| Tenorio Syndrome |
|
Ventriculomegaly, Syncope, Hydrocephalus, Raynaud phenomenon, Enuresis |
OMIM:616260 |
| Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Heart murmur, Edema, Congestive heart failure |
ORPHA:1054 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, Decreased testicular size, Furrowed tongue, Cryptorchidism, Micropenis, High palate |
OMIM:300534 |
| Houge-Janssens Syndrome 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:616355 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney disease, Hyperlipid... |
OMIM:608612 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Red-brown urine, Purple urine, Osteolysis, Increased urinary porphobilinogen, Splenom... |
ORPHA:79277 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... |
ORPHA:542306 |
| Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Toe syndactyly, Scoliosis, Finger syndactyly, Ascites, Displacement... |
ORPHA:1556 |
| Steinfeld Syndrome |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal heart morphology, Ap... |
OMIM:184705 |
| Laron Syndrome |
|
Short long bone, Abnormal joint morphology |
OMIM:262500 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss, Goiter |
OMIM:188580 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor, Splenomegaly, Prolonged neonatal jaundice, Jaundice, Hemoglobinuria |
OMIM:300908 |
| Rothmund-Thomson Syndrome Type 1 |
|
Facial edema, Delayed eruption of teeth, Patellar hypoplasia, Metaphyseal sclerosis, Patellar apl... |
ORPHA:221008 |
| Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Sho... |
ORPHA:1106 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Wide anterior fontanel, Ventricular septal defect |
ORPHA:2143 |
| Thalidomide Embryopathy |
|
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... |
ORPHA:3312 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Pulmonary artery aneurysm, Failure to thrive, Bilateral cryptorchidism, Recurrent otitis media, I... |
OMIM:616462 |
| Pituitary Apoplexy |
|
Hypotension, Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, D... |
ORPHA:95613 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Cardiomyopathy, Dicarboxylic aciduria, Hyperammonemia, Rhabdomyolysis, E... |
OMIM:212138 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect, Preaxial hand polydactyly |
ORPHA:79113 |
| Poems Syndrome |
|
Ascites, Metaphyseal sclerosis, Sclerotic vertebral endplates, Pleural effusion, Pulmonary arteri... |
ORPHA:2905 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Growth delay, Goiter, Hyperbilirubinemia, Feeding difficulties in infancy, Constipation, Abdomina... |
OMIM:218700 |
| Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Cervical C2/C3 v... |
ORPHA:1780 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Lateral ventricle dilatation, Vesicovaginal fistula, Oligohydramnios, Ureteropelvic junction obst... |
OMIM:300896 |
| Arboleda-Tham Syndrome |
|
Webbed neck, Gastroesophageal reflux, Recurrent respiratory infections, Recurrent urinary tract i... |
OMIM:616268 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crazy paving pattern, Tachypnea, Acute infectious pneumonia |
ORPHA:264675 |
| Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe... |
ORPHA:369929 |
| 8P Inverted Duplication/Deletion Syndrome |
|
High, narrow palate, Abnormality of the urinary system, Cryptorchidism, Hydronephrosis, Aplasia/H... |
ORPHA:96092 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Toe syndactyly, Tetralogy of Fallot, Ventricular s... |
OMIM:100300 |
| Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas, Ankyloglossia, Duplicated collecting system, Cleft palate, Feeding difficulties |
ORPHA:488642 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Hip dysplasia, Facial hypotonia, Ventricular septal defect |
OMIM:618798 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Renal hypoplasia, Gastroesophageal reflux, Tethered cord, Recurrent urinary tract infections, Fee... |
OMIM:617157 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Short 5th finger, Toe clinodactyly, Bulbous tips of toes, Ventricular se... |
ORPHA:163979 |
| Rhombencephalosynapsis |
|
Abnormal renal morphology, Ventriculomegaly, Fusion of the left and right thalami, Hydrocephalus |
ORPHA:59315 |
| Bardet-Biedl Syndrome 9 |
|
Renal insufficiency |
OMIM:615986 |
| Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration |
ORPHA:79126 |
| Velocardiofacial Syndrome |
|
Tetralogy of Fallot, Hypocalcemia, Cryptorchidism, Ventricular septal defect, Hypoparathyroidism |
OMIM:192430 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Renal insufficiency, Hypocalcemia, Hyponatremia, Arthritis, Elevated circulating... |
ORPHA:247353 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Shortening of all distal phalanges of the fingers, Scoliosis, Atrial septal defect |
OMIM:614207 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias |
ORPHA:77298 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Joint hypermobility |
ORPHA:2715 |
| Ring Chromosome 10 Syndrome |
|
Cachexia, Hypocalcemia, Renal hypoplasia/aplasia |
ORPHA:1438 |
| Orofaciodigital Syndrome V |
|
Postaxial foot polydactyly, Sandal gap, Tetralogy of Fallot, Ventricular septal defect, Postaxial... |
OMIM:174300 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Malabsorption, Nausea ... |
ORPHA:440437 |
| Christianson Syndrome |
|
Cachexia, Feeding difficulties in infancy, Gastroesophageal reflux, Dysphagia |
ORPHA:85278 |
| Bone Marrow Failure Syndrome 3 |
|
Eczematoid dermatitis, Exocrine pancreatic insufficiency, Cryptorchidism, Hyperechogenic pancreas... |
OMIM:617052 |
| Monosomy 13Q34 |
|
Hematochezia, Epistaxis, Postaxial foot polydactyly, Prolonged prothrombin time, Postaxial hand p... |
ORPHA:96168 |
| Neonatal Marfan Syndrome |
|
Aortic root aneurysm, Decreased testicular size, Small for gestational age, Feeding difficulties,... |
ORPHA:284979 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal agenesis, Mitral atresia, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Abn... |
ORPHA:140952 |
| Peters-Plus Syndrome |
|
Square pelvis bone, Cryptorchidism, Limited elbow movement, Short neck, Short foot, Hypospadias, ... |
OMIM:261540 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Carious teeth, Hyperplasia of the maxilla, Micrognathia, Vesicoureteral reflux, Right ventricular... |
OMIM:150230 |
| Apert Syndrome |
|
Delayed epiphyseal ossification, Broad distal phalanx of the thumb, Broad thumb, Synostosis of ca... |
OMIM:101200 |
| Huntington Disease |
|
Weight loss, Abnormal circulating cholesterol concentration, Oral-pharyngeal dysphagia, Decreased... |
ORPHA:399 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Hand clenching, Biventricular hypertrophy, Tricuspid regurgitation, Overlap... |
OMIM:617402 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Dysphagia, Goiter |
ORPHA:97285 |
| Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
| Nail-Patella Syndrome |
|
Triceps aplasia, Quadriceps aplasia, Biceps aplasia, Absence of pectoralis minor muscle, Renal in... |
OMIM:161200 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Right-to-left shunt, Tongue telangiectasia, Transient ischemic attack, Ischemic stroke, Nasal muc... |
OMIM:610655 |
| Hypomandibular Faciocranial Dysostosis |
|
Patent ductus arteriosus, Atrial septal defect |
OMIM:241310 |
| Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Sandwich appearance of vertebral bodies, Femoral bowing, Osteosclero... |
OMIM:602080 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Anteriorly placed anus, Umbilical hernia, Respiratory distress, Cryptorchidism, Abnormality of th... |
ORPHA:1555 |
| Cerebrofaciothoracic Dysplasia |
|
Vertebral segmentation defect, Short neck, Hemivertebrae, Polyhydramnios, Scoliosis |
ORPHA:1394 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Slender finger, Small hand, Broad thumb, Broad hallux, Abnormal hip bone morphology, Lumbar hyper... |
ORPHA:251028 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Decreased liver function, Feeding difficulties, Hyperglycinemia, Hypernatremia, Poor suck |
OMIM:620423 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Vesicoureteral reflux, Lateral ventricle dilatation |
OMIM:619869 |
| Congenital Disorder Of Deglycosylation 1 |
|
Hepatic fibrosis, Chondroitin sulfate excretion in urine, Oral-pharyngeal dysphagia, Respiratory ... |
OMIM:615273 |
| Ear-Patella-Short Stature Syndrome |
|
High, narrow palate, Bifid uvula, Elbow dislocation, Camptodactyly of finger, Respiratory distres... |
ORPHA:2554 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor, Melena |
ORPHA:98870 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Short neck, Scoliosis, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
| Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
| Gracile Bone Dysplasia |
|
Ascites, Micropenis, Hydrocephalus |
OMIM:602361 |
| Unilateral Ocular Duplication |
|
Polyhydramnios |
ORPHA:3374 |
| Vater/Vacterl Association |
|
Abnormal vertebral morphology, Short thumb, Preaxial polydactyly, Tetralogy of Fallot, Ventricula... |
OMIM:192350 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Short thumb, Sandal gap, Tetralogy of Fallot, Cervical C5/C6 vertebrae fusion, Facial ... |
OMIM:613458 |
| Lesch-Nyhan Syndrome |
|
Nephrocalcinosis, Podagra, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Testicular atrophy |
OMIM:300322 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss, Abnormal circulating lipid concentration, Hyperlipoproteinemia |
ORPHA:1979 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid uvula, Narrow palate, Anteriorly placed anus, Respiratory distress, Limited elbow extension... |
OMIM:123790 |
| Rothmund-Thomson Syndrome Type 2 |
|
Facial edema, Delayed eruption of teeth, Patellar hypoplasia, Metaphyseal sclerosis, Patellar apl... |
ORPHA:221016 |
| Keppen-Lubinsky Syndrome |
|
Polyhydramnios, Lateral ventricle dilatation |
OMIM:614098 |
| Laryngomalacia |
|
Respiratory distress |
OMIM:150280 |
| Charge Syndrome |
|
Webbed neck, Gastroesophageal reflux, Umbilical hernia, Horseshoe kidney, Vesicoureteral reflux, ... |
ORPHA:138 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss, Goiter |
OMIM:613239 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, High palate, Hypospadias |
OMIM:619272 |
| Parkes Weber Syndrome |
|
Abnormality of the urinary system, Myelopathy, Urinary retention, High-output congestive heart fa... |
ORPHA:90307 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Renal insufficiency, Abnormal aortic valve morphology, Proteinuria, Glomerulopathy, Microscopic h... |
ORPHA:86818 |
| Fanconi Anemia, Complementation Group R |
|
Pelvic kidney, Hydrocephalus |
OMIM:617244 |
| Lymphedema-Distichiasis Syndrome |
|
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Varicose vein... |
ORPHA:33001 |
| White-Sutton Syndrome |
|
Broad thumb, Hypoplastic cervical vertebrae, Congenital diaphragmatic hernia, Patent foramen oval... |
OMIM:616364 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral arteriovenous malformation, Cerebral... |
OMIM:600376 |
| Cranio-Osteoarthropathy |
|
Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis |
ORPHA:1525 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Acromesomelia, Clinodactyly, Short proximal phalanx of the 5th finger, Brachydactyly, Atrial sept... |
ORPHA:261323 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Clinodactyly, Radial deviation of finger, Ventricular septal defect, Kyphoscoliosis, Talipes equi... |
OMIM:301040 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased proportion of CD4-positive T cells, Leukocytosis, Elevated circulating C-reactive prote... |
OMIM:617099 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
| Keutel Syndrome |
|
Short distal phalanx of finger, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis... |
OMIM:245150 |
| Bohring-Opitz Syndrome |
|
Cholelithiasis, Vomiting, Annular pancreas, Urinary retention, Nephroblastoma, Feeding difficulti... |
ORPHA:97297 |
| Pseudohypoparathyroidism Type 1A |
|
Pituitary resistance to thyroid hormone, Ectopic ossification, Hyperphosphatemia, Elevated circul... |
ORPHA:79443 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
| Whipple Disease |
|
Hypotension, Gastrointestinal hemorrhage, Hydrocephalus, Myocarditis, Myocardial infarction, Peda... |
ORPHA:3452 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Platyspondyly, Biconcave vertebral bodies, Tibial bowing, Ventricular septal defect, Kyphoscolios... |
OMIM:259770 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Hypophosphatemic rickets, Renal artery stenosis, Cardiomegaly, Ankylosis |
OMIM:208000 |
| Aredyld Syndrome |
|
Hepatomegaly, Abnormality of the ureter, Cachexia, Splenomegaly |
ORPHA:1133 |
| Keppen-Lubinsky Syndrome |
|
Recurrent pneumonia, Decreased testicular size, Polyhydramnios, Increased susceptibility to fract... |
ORPHA:435628 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Unilateral renal agenesis, Hypoplasia of the bladder, Central hypoth... |
OMIM:620305 |
| Ulnar-Mammary Syndrome |
|
Hypoplastic scapulae, Short 5th toe, Ventricular septal defect, Arrhythmia, Absent radius, Short ... |
OMIM:181450 |
| Oculodentodigital Dysplasia |
|
Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Clinodactyly, Camptodactyly of finge... |
ORPHA:2710 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Patent foramen ovale, Limb hypertonia, Atrial septal defect, Limb joint contracture, Patent ductu... |
OMIM:620327 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Atrial septal defect, Verte... |
ORPHA:3109 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad hallux, Peripheral pulmonary artery stenosis, Atrial septal defect, Shortening of all dista... |
OMIM:614749 |
| Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Ventricular septal defect, Narrow pa... |
OMIM:244450 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections |
OMIM:618882 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t... |
OMIM:119100 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Hypospadias, Toe syndactyly, Short finger, Decreased testicular size, Clinodactyly of the 5th fin... |
ORPHA:459070 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Lumbar scoliosis, Short neck, Metaphyseal dysplasia, Genu varum, Irregular vertebral endplates, V... |
ORPHA:99646 |
| Acheiropody |
|
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... |
OMIM:200500 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Kapur-Toriello Syndrome |
|
Tetralogy of Fallot, Short neck, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:2328 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Arteria lusoria, Tibial torsion, Overlapping toe, Oligohydramnios, Patent foramen ovale, 2-3 toe ... |
OMIM:618653 |
| Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Small hand, Ventricular septal defect, Atrial septal defect, Brachydacty... |
OMIM:300712 |
| Isolated Posterior Meningocele |
|
Hydromyelia, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, N... |
ORPHA:268810 |
| Opitz Gbbb Syndrome |
|
Abnormality of the urinary system, Aortic root aneurysm, Vesicoureteral reflux, Cryptorchidism, H... |
ORPHA:2745 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Broad hallux, Umbilical hernia, Joint hypermobility, Brachydactyly, Polyhydramnios, Clinodactyly ... |
OMIM:617062 |
| Oculoauricular Syndrome |
|
Spina bifida occulta |
OMIM:612109 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Respiratory distress, Dysphagia |
OMIM:620375 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Noonan Syndrome 1 |
|
Chylothorax, Abnormal bleeding, Bruising susceptibility, Lymphedema, Hypertrophic cardiomyopathy,... |
OMIM:163950 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
| Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
| Neurofibroma |
|
Intestinal bleeding, Recurrent otitis media, Enlargement of parotid gland, Abnormal biliary tract... |
ORPHA:252183 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
| Xylt1-Cdg |
|
Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Joint hypermobility, Short clavi... |
ORPHA:370930 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal dysplasia, Bifid ureter, Nephroblastoma, Renal cyst, Macroglossia, Renal malrotation, Pedal... |
OMIM:617107 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Unilateral renal agenesis, Renal hypoplasia, Aortic root aneurysm, Recurrent otitis media, Obesit... |
OMIM:620654 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Dextrocardia, Ventricular septal defect |
OMIM:616037 |
| Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Clinodactyly, Broad finger, Oligohydramnios, Diastasis recti, Ventricula... |
ORPHA:488632 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Anoperineal fistula, Osteomalacia, Anorexia, Abdominal pain, Duodenal ulcer, Osteomyeli... |
OMIM:619381 |
| Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Diarrhea, Abnormal circulating cholesterol concentration, Pseudobulbar paralysis |
OMIM:213700 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Vertebral segmentation defect, Aplasia/Hypoplasia of the thumb, Overriding a... |
ORPHA:3186 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Intrauterine growth retardation, Hydronephrosis, Sh... |
ORPHA:1297 |
| Inhalational Anthrax |
|
Respiratory distress, Abnormal sweat gland morphology, Vomiting, Dyspnea |
ORPHA:247257 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Hypokalemia, Abnormality of urine homeostasis, Increased body w... |
ORPHA:1501 |
| Osteogenesis Imperfecta, Type I |
|
Aortic aneurysm |
OMIM:166200 |
| Coffin-Siris Syndrome |
|
Short 5th finger, Clinodactyly, Delayed eruption of teeth, Abnormal heart morphology, Tetralogy o... |
ORPHA:1465 |
| Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... |
ORPHA:2306 |
| Trisomy 10P |
|
Gastroesophageal reflux, Absent gallbladder, Multiple renal cysts, Abnormality of the kidney, Hig... |
ORPHA:171929 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Aplasia/Hypoplasia of the radius, Micromelia, Radial bowing, Ulnar bowing, Madelung deformity |
ORPHA:1765 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Constipation, Feeding difficulties |
OMIM:616801 |
| Familial Adenomatous Polyposis |
|
Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Stomach cancer, Duodenal adenocarcinoma, Du... |
ORPHA:733 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Oligohydramnios, Hydrocephalus |
ORPHA:3016 |
| Au-Kline Syndrome |
|
Chronic kidney disease, Gastroesophageal reflux, Dilatation of the renal pelvis, Failure to thriv... |
OMIM:616580 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
| De Barsy Syndrome |
|
Congenital hip dislocation, Delayed eruption of teeth, Prominent veins on trunk, Decreased muscle... |
ORPHA:2962 |
| Childhood Absence Epilepsy |
|
Urinary incontinence, Pallor |
ORPHA:64280 |
| Cog1-Cdg |
|
Rhizomelia, Butterfly vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Talipes equinovar... |
ORPHA:263508 |
| 19Q13.11 Microdeletion Syndrome |
|
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Ventricular sept... |
ORPHA:217346 |
| Rothmund-Thomson Syndrome |
|
Facial edema, Aplasia/Hypoplasia of the radius, Short thumb, Delayed eruption of teeth, Aplasia/H... |
ORPHA:2909 |
| Holoprosencephaly |
|
Abnormality of the spleen, Cryptorchidism, Encephalocele, Short neck, Feeding difficulties in inf... |
ORPHA:2162 |
| Familial Mediterranean Fever |
|
Renal amyloidosis, Stage 5 chronic kidney disease, Splenomegaly, Orchitis, Hepatomegaly, Elevated... |
OMIM:249100 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... |
OMIM:187300 |
| Leptospirosis |
|
Acute kidney injury, Diarrhea, Hepatitis, Respiratory distress, Pulmonary hemorrhage, Pleural eff... |
ORPHA:509 |
| Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia |
ORPHA:23 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Patent for... |
OMIM:263650 |
| Diamond-Blackfan Anemia |
|
Webbed neck, Renal agenesis, Horseshoe kidney, Cleft soft palate, Nonimmune hydrops fetalis, Shor... |
ORPHA:124 |
| Oculodentodigital Dysplasia |
|
Clinodactyly, 3-4 toe syndactyly, Joint contracture of the 5th finger, Cubitus valgus, Arrhythmia... |
OMIM:164200 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Ketonuria, Glycosuria, Pancreatic hypoplasia, Renal tubular dysfunction, Ab... |
ORPHA:99885 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypertrophic cardiomyopathy, Mitral atresia, Hyperammonemia, Bicuspid aortic valve, Le... |
OMIM:220111 |
| Isolated Cleft Lip |
|
Polyhydramnios, Umbilical hernia |
ORPHA:199302 |
| Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect |
OMIM:619895 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Intrauterine growth retardation, Organic aciduria, Pallor, Cryptorchidism |
OMIM:301310 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Cryptorchidism, Feeding difficulties in infancy, Abnormality of the kidney, Patellar dislocation,... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Cryptorchidism, Feeding difficulties in infancy, Abnormality of the kidney, Patellar dislocation,... |
ORPHA:353277 |
| Renpenning Syndrome |
|
Decreased testicular size, Cachexia, Hypospadias |
ORPHA:3242 |
| Slc35A1-Cdg |
|
Respiratory distress, Pulmonary hemorrhage, Pneumonia |
ORPHA:238459 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Chronic kidney disease, Glutaric aciduria, Ventriculomegaly, Subdural hemorrhage, Subependymal no... |
ORPHA:25 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Ketonuria, Hypertrophic cardiomyopathy, Hyperam... |
OMIM:616878 |
| Cornelia De Lange Syndrome 6 |
|
Short 1st metacarpal, Atrioventricular canal defect, Clinodactyly of the 5th finger, Ventricular ... |
OMIM:620568 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Short toe, Tetralogy of Fallot, Ventricular septal defect, Advanced eruption o... |
ORPHA:1519 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Supernumerary nipple, Elbow fle... |
OMIM:619194 |
| Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Weight loss, Anorexia |
ORPHA:514 |
| Bardet-Biedl Syndrome |
|
Chronic kidney disease, Inflammation of the large intestine, Hepatic steatosis, Cryptorchidism, P... |
ORPHA:110 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Short thumb, Abnormal form of the vertebral bodies, Preaxial hand ... |
ORPHA:280 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Constipation, Hydrocephalus, Polyhydramnios, Hydrocele testis, Sacral dimple |
OMIM:613603 |
| Distal Deletion 19P |
|
Ventricular septal defect, Arachnodactyly, Tricuspid valve prolapse, Long toe, Pulmonary valve at... |
ORPHA:96129 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hemolytic anemia,... |
OMIM:620565 |
| Galloway-Mowat Syndrome 3 |
|
Stage 5 chronic kidney disease, Oligohydramnios, Proteinuria, Hiatus hernia, Diffuse mesangial sc... |
OMIM:617729 |
| Sotos Syndrome |
|
Gastroesophageal reflux, Renal agenesis, Feeding difficulties, Renal insufficiency, Cryptorchidis... |
ORPHA:821 |
| Mcdonough Syndrome |
|
Cachexia, Cryptorchidism |
ORPHA:2471 |
| Fanconi Anemia, Complementation Group C |
|
Anterior wedging of T12, Absent thumb, Bruising susceptibility, Short thumb, Ventricular septal d... |
OMIM:227645 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Skel... |
OMIM:210210 |
| Fanconi Anemia, Complementation Group A |
|
Renal agenesis, Horseshoe kidney, Cryptorchidism, Abnormal renal morphology, Anemic pallor, Dupli... |
OMIM:227650 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
2-3 toe cutaneous syndactyly, Secundum atrial septal defect |
OMIM:620242 |
| Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Joint contracture of the hand, Renal insuffi... |
OMIM:251300 |
| Kasabach-Merritt Phenomenon |
|
Abdominal pain, Hepatic hemangioma, Abnormal lymphatic vessel morphology, Abdominal distention |
ORPHA:2330 |
| Renal Nutcracker Syndrome |
|
Renal artery stenosis, Hematuria, Proteinuria, Nausea, Weight loss, Abdominal pain, Microscopic h... |
ORPHA:71273 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Neonatal death |
OMIM:601612 |
| Kleefstra Syndrome 1 |
|
Natal tooth, Persistence of primary teeth, Conotruncal defect, Single transverse palmar crease, T... |
OMIM:610253 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Aortic root aneurysm, Cryptorchidism, Carotid artery stenosis, Prominent superficial veins, Osteo... |
OMIM:618000 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Anteriorly placed anus, Hamartoma of tongue, Unilateral renal hypoplasia... |
OMIM:615948 |
| Boutonneuse Fever |
|
Renal insufficiency |
ORPHA:83313 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Toe syndactyly, Branchial fistula, Camptodactyly of finger, Tricuspid regurgitation, Palpebral ed... |
ORPHA:261337 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Abdominal pain, Vomiting, Dyspnea |
ORPHA:464453 |
| Cardiac Valvular Dysplasia 2 |
|
Pulmonary artery dilatation, Ascending tubular aorta aneurysm |
OMIM:620067 |
| Silver-Russell Syndrome |
|
Abnormality of the urinary system, Gastroesophageal reflux, Failure to thrive in infancy, Decreas... |
ORPHA:813 |
| Zttk Syndrome |
|
Unilateral renal agenesis, Bifid uvula, Horseshoe kidney, Absent gallbladder, Chronic diarrhea, S... |
OMIM:617140 |
| Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Joint hypermobility, Subperio... |
OMIM:114000 |
| Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated cir... |
ORPHA:94093 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Heart murmur, Abnormal palmar dermatoglyphics, Atrial septal defect |
ORPHA:2728 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Renal hypoplasia, Decreased testicular size, Hypoplasia of the ovary, Micropenis, Flexion contrac... |
OMIM:619321 |
| Floating-Harbor Syndrome |
|
Broad thumb, Short 1st metacarpal, Ivory epiphyses of the distal phalanges of the hand, Short 5th... |
OMIM:136140 |
| Radio-Tartaglia Syndrome |
|
Tapered finger, Scoliosis, Brachydactyly, Ventricular septal defect |
OMIM:619312 |
| Tetraamelia Syndrome 2 |
|
Absent nipple, Ankyloglossia, Bilateral lung agenesis, Hypoplastic pulmonary veins, Micropenis, G... |
OMIM:618021 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Umbilical hernia, Gastroparesis, Oligohydramnios, Cryptorchidism, 3-Methylglutaconic aciduria, Ne... |
OMIM:614052 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Slender finger, Secundum atrial septal defect, Tibial torsion, Bicuspid aortic valve, Long toe, P... |
OMIM:613355 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Sp... |
OMIM:600460 |
| Molybdenum Cofactor Deficiency, Type C |
|
Hypouricemia, Increased urinary taurine, Hypocystinemia, Limb hypertonia, Hypertaurinemia |
OMIM:615501 |
| Lateral Meningocele Syndrome |
|
Abnormal form of the vertebral bodies, Ventricular septal defect, Short neck, Hyperlordosis, Scol... |
ORPHA:2789 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... |
OMIM:610338 |
| Joubert Syndrome With Renal Defect |
|
Nephropathy, Renal insufficiency, Encephalocele, Agenesis of corpus callosum, Hydrocephalus |
ORPHA:220497 |
| 16P13.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Metatarsus valgus, Ventricular septal defect, Talipes equinovarus, Atria... |
ORPHA:261236 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Bifid uvula, Camptodactyly of finger, Cryptorchidism, Submucous cleft hard palate, Joint hypermob... |
ORPHA:3047 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Ventricular septal defect, Camptodactyly of toe, Short neck |
ORPHA:251038 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hypertrophic cardiomyopathy, Abnormal heart morphology, Abnormal tibia morphology, Genu valgum, M... |
ORPHA:363700 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Retinal telangiectasia |
OMIM:620157 |
| Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
| Encephalocraniocutaneous Lipomatosis |
|
Agenesis of corpus callosum, Hydronephrosis, Hydrocephalus, Pelvic kidney, Dandy-Walker malformation |
OMIM:613001 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Broad thumb, Overlapping toe, Bicuspid aortic valve, Short neck, Atrial septal defect, Patent duc... |
OMIM:612474 |
| Pachydermoperiostosis |
|
Limitation of joint mobility, Osteomyelitis, Abnormal cortical bone morphology, Splenomegaly, Hyp... |
ORPHA:2796 |
| Joubert Syndrome With Oculorenal Defect |
|
Nephropathy, Renal insufficiency, Abnormality of the hypothalamus-pituitary axis |
ORPHA:2318 |
| Sacral Defect With Anterior Meningocele |
|
Hydromyelia, Urinary retention, Myelomeningocele, Myeloschisis, Neurogenic bladder, Hydrocephalus... |
OMIM:600145 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Caudal appendage, Single transverse palmar crease, Ventricular septal defe... |
OMIM:272950 |
| Chops Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Cervical C2/C3 vertebral fusion, Brachydactyly, ... |
OMIM:616368 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect |
OMIM:611926 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress, Periorbital edema, Po... |
ORPHA:141083 |
| Williams-Beuren Syndrome |
|
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Radioulnar synostosis, A... |
OMIM:194050 |
| 15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Tricuspid regurgitation, Horseshoe kidney, Mitral regurgitation, Nephrob... |
ORPHA:314585 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Lamellar Ichthyosis |
|
Renal insufficiency |
ORPHA:313 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Short stature, Osteoarthritis, Aortic root aneurysm, Recurrent sinusitis |
OMIM:130000 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Cleft palate, Ectopic kidney, Renal duplication |
OMIM:613309 |
| Cranioectodermal Dysplasia 4 |
|
Stage 5 chronic kidney disease, Sagittal craniosynostosis, Joint hypermobility |
OMIM:614378 |
| Hereditary Folate Malabsorption |
|
Pallor, Recurrent urinary tract infections |
ORPHA:90045 |
| Adnp Syndrome |
|
Recurrent upper respiratory tract infections, Gastroesophageal reflux, Vomiting, Oral-pharyngeal ... |
ORPHA:404448 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Ventricular septal defect |
OMIM:616901 |
| Chime Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep... |
ORPHA:3474 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca |
OMIM:270150 |
| Alström Syndrome |
|
Chronic kidney disease, Testicular fibrosis, Elevated gamma-glutamyltransferase level, Hepatosple... |
ORPHA:64 |
| Molybdenum Cofactor Deficiency, Type A |
|
Hypouricemia, Decreased urinary urate, Increased urinary taurine, Increased urinary hypoxanthine ... |
OMIM:252150 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Joint hemorrhage, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
| Temple Syndrome |
|
Hydrocephalus |
OMIM:616222 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
| Fanconi Anemia, Complementation Group E |
|
Renal agenesis, Horseshoe kidney, Cryptorchidism, Anemic pallor, Duplicated collecting system, Ec... |
OMIM:600901 |
| Graves Disease |
|
Weight loss, Goiter |
OMIM:275000 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
| Chromosome 15Q25 Deletion Syndrome |
|
Coronary artery fistula, Congenital diaphragmatic hernia, Ventricular septal defect, Short neck, ... |
OMIM:614294 |
| Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
| Martin-Probst Syndrome |
|
Renal insufficiency, Cryptorchidism, Proteinuria, Chordee, Hypoplastic nipples, Hypothyroidism, M... |
OMIM:300519 |
| Citrullinemia, Classic |
|
Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia, Hepatomegaly, Elevated plasma... |
OMIM:215700 |
| Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Calcification of the aort... |
ORPHA:391665 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... |
ORPHA:83451 |
| Tsh-Secreting Pituitary Adenoma |
|
Secondary growth hormone deficiency, Hypotension, Increased circulating prolactin concentration, ... |
ORPHA:91347 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Slender long bone, Ventricular septal defect, Short neck, Thoracolumbar kyphoscoliosis, Proximal ... |
OMIM:212066 |
| Osteogenesis Imperfecta, Type Viii |
|
Platyspondyly, Kyphosis, Slender long bone, Radial bowing, Femoral bowing, Tibial bowing, Femoral... |
OMIM:610915 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Unilateral renal agenesis, Communicating hydrocephalus |
ORPHA:1064 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Block vertebrae, Occipital encephalocele, Renal agenesis, Genu valg... |
OMIM:164210 |
| Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Ventricular septal defect, Radioulnar synostosis, Talipes equinovarus, Sho... |
OMIM:194190 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Small hand, Single transverse palmar crease, Ventricular septal defect, Shortened PR interval, Ve... |
OMIM:614947 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Small hand, Clinodactyly, Broad hallux, Contracture of the proximal interphalangeal joint of the ... |
OMIM:301044 |
| Joubert Syndrome 9 |
|
Stage 5 chronic kidney disease |
OMIM:612285 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small hand, Xerostomia, Atrial septal defect, Hip dysplasia, Flexion contracture, Short foot, Sco... |
ORPHA:398069 |
| Oculoectodermal Syndrome |
|
Lymphedema, Hypertrophic cardiomyopathy, Transient ischemic attack, Coarctation of aorta, Short n... |
OMIM:600268 |
| Feingold Syndrome 1 |
|
Accessory spleen, Annular pancreas, Short toe, Polysplenia, Short thumb, Decreased fetal movement... |
OMIM:164280 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
| Nocardiosis |
|
Pneumonia, Vomiting, Respiratory distress, Emphysema, Osteomyelitis, Pleural effusion, Peritoniti... |
ORPHA:31204 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea, Thyroid hyperplasia, Goiter, Weight loss, Small for gestational age |
ORPHA:424 |
| Osteoglophonic Dysplasia |
|
Platyspondyly, Osteopenia, Camptodactyly of finger, Respiratory distress, Cryptorchidism, Increas... |
OMIM:166250 |
| Granulomatosis With Polyangiitis |
|
Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Prostatitis, Glomerulopathy, Panc... |
ORPHA:900 |
| Prolactinoma |
|
Secondary growth hormone deficiency, Hypotension, Pallor, Adrenocorticotropic hormone deficiency,... |
ORPHA:2965 |
| Hermansky-Pudlak Syndrome 1 |
|
Renal insufficiency, Cardiomyopathy |
OMIM:203300 |
| Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Small hand, Ventricular septal defect, Short neck, Limb hypertonia, Clinoda... |
OMIM:609460 |
| Microphthalmia, Syndromic 1 |
|
High, narrow palate, Webbed neck, Renal hypoplasia, Pyloric stenosis, Hydroureter, Joint contract... |
OMIM:309800 |
| Cockayne Syndrome |
|
Urinary incontinence, Renal hypoplasia, Unilateral renal agenesis, Congenital contracture, Contra... |
ORPHA:191 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Weight loss, Abdominal pain, Dysphagia |
ORPHA:97286 |
| Myopathy With Extrapyramidal Signs |
|
Short neck, Calf muscle hypertrophy, Ventricular septal defect |
OMIM:615673 |
| Pettigrew Syndrome |
|
Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:304340 |
| Developmental And Epileptic Encephalopathy 31B |
|
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum |
OMIM:620352 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Cholera |
|
Acute kidney injury, Hypocalcemia, Hypokalemia, Hyponatremia, Decreased urine output, Abnormal bl... |
ORPHA:173 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Platyspondyly, Broad femoral neck, Increased intervertebral space, Ventricular septal defect, Dia... |
OMIM:619727 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Progressive ventriculomegaly, Ventriculomegaly, Lateral ventricle dila... |
ORPHA:500150 |
| Trisomy 18 |
|
Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Oligohydramnios, Cong... |
ORPHA:3380 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Short neck, Thoracolumbar scoliosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:300472 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Nausea and vomiting, Abnormality of th... |
ORPHA:679 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Histiocytoid cardiomyopathy, Agenesis of corpus callosum, Arrhyth... |
OMIM:309801 |
| 8P11.2 Deletion Syndrome |
|
Mitral valve prolapse, Talipes equinovarus, Atrial septal defect, Patent ductus arteriosus, Sacra... |
ORPHA:251066 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral renal agenesis, Recurrent upper respiratory tract infections, Multicystic kidney dyspl... |
OMIM:308205 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
| Kabuki Syndrome 1 |
|
Lateral ventricle dilatation, Crossed fused renal ectopia, Ureteropelvic junction obstruction, Hy... |
OMIM:147920 |
| Jacobsen Syndrome |
|
Hypospadias, Annular pancreas, Cryptorchidism, Pyloric stenosis |
OMIM:147791 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Broad distal phalanx of finger, Vascular ring, Broad thumb, Broad hallux, ... |
ORPHA:353281 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Gastroesophageal reflux, Hypopnea, Vomiting, Respiratory distress, Apnea, Death in childhood, Dea... |
OMIM:618426 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Fetal distress, Splenomegaly, Hepatomegaly, Polyhydramnios, Jaundice |
OMIM:608885 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Dysphagia |
ORPHA:97229 |
| Aicardi-Goutieres Syndrome 7 |
|
Pneumonia, Atrophic gastritis, Nephrotic syndrome, Diarrhea, Hematochezia, Hepatitis, Feeding dif... |
OMIM:615846 |
| 47,Xyy Syndrome |
|
Micropenis, Hypospadias, Hydrocephalus, Increased circulating gonadotropin level |
ORPHA:8 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, Patent foramen ovale |
OMIM:619699 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Bilateral coxa valga, Patent foramen ovale, Knee flexion contracture, Single transverse palmar cr... |
OMIM:618076 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
| Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypopituitarism, Cerebral ischemia, Abnormal hypot... |
ORPHA:54595 |
| X-Linked Creatine Transporter Deficiency |
|
Cachexia, Constipation, Ileus, Abnormal circulating creatine concentration |
ORPHA:52503 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Feeding difficulties, Dyspnea, High, narrow palate |
ORPHA:2707 |
| Walker-Warburg Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Hypoplasia of penis, Dandy-Walker m... |
ORPHA:899 |
| Carpenter Syndrome 2 |
|
Broad thumb, Cutaneous finger syndactyly, Talipes equinovarus, Short neck, Atrial septal defect, ... |
OMIM:614976 |
| Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia, Abnormality of the urinary system, Bowel incontinence |
ORPHA:702 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Hepatosplenomegaly, Pallor |
ORPHA:331206 |
| Faciocardiomelic Syndrome |
|
Slender long bone, Hypoplastic pelvis, Cuboid-shaped vertebral bodies, Polydactyly, Common atrium |
OMIM:612731 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pallor, Increased circulating prolactin concentration |
OMIM:617675 |
| Mowat-Wilson Syndrome |
|
Vomiting, Supernumerary nipple, Recurrent otitis media, Cryptorchidism, Pulmonary artery sling, P... |
OMIM:235730 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Pallor, Elevated hepatic iron concentration |
ORPHA:300298 |
| Biotinidase Deficiency |
|
Myelopathy, Organic aciduria, Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Respiratory distress, Decreased glomerula... |
OMIM:614748 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Equinus calcaneus, 2-3 toe syndactyly, Progressive flexion contractures, At... |
ORPHA:522077 |
| Plague |
|
Inflammation of the large intestine, Diarrhea, Vomiting, Respiratory distress, Splenomegaly, Ilei... |
ORPHA:707 |
| Sacral Agenesis With Vertebral Anomalies |
|
Unilateral renal agenesis, Persistent cloaca, Neonatal death |
OMIM:615709 |
| Primary Sjögren Syndrome |
|
Arteritis, Biliary cirrhosis, Xerostomia, Parotitis, Chronic hepatitis, Renal insufficiency, Lymp... |
ORPHA:289390 |
| Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1647 |
| Incontinentia Pigmenti |
|
Erythema, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Pallor, Hypoplastic nipples, R... |
OMIM:308300 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Elevated circulating C-reactive protein concentration, Inflammation of the large intestine, Weigh... |
ORPHA:324964 |
| Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Short sternum, Wide anterior fontanel... |
OMIM:222448 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Bruising susceptibility, Tricuspid regurgitation, Diastasis recti, Mitral r... |
OMIM:601776 |
| Digeorge Syndrome |
|
Recurrent otitis media, Hepatic steatosis, Ovarian cyst, Patent ductus arteriosus, Renal dysplasi... |
OMIM:188400 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Tachypnea, Vomiting, Anorexia |
OMIM:237310 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia, Constipation, Nasogastric tube feeding in infancy, Feeding di... |
ORPHA:371364 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal vertebral morphology, Small hand, Aortic root aneurysm, Congestive heart failure, Abnorm... |
ORPHA:444077 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Patent foramen ovale |
OMIM:614868 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Stromme Syndrome |
|
Bilateral renal hypoplasia, Agenesis of corpus callosum, Hydronephrosis, Hydrocephalus, Stillbirth |
OMIM:243605 |
| Developmental And Epileptic Encephalopathy 49 |
|
Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
| Auriculocondylar Syndrome |
|
Bifid uvula, Microglossia, Respiratory distress, Hamartoma of tongue, Feeding difficulties, Gloss... |
ORPHA:137888 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Lateral ventricle dilatation |
OMIM:618367 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Scoliosis, Limb hypertonia, Atrial septal defect |
ORPHA:457351 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy |
ORPHA:294023 |
| Rabson-Mendenhall Syndrome |
|
Cardiomyopathy, Polydactyly, Ventricular septal defect, Advanced eruption of teeth, Atrial septal... |
ORPHA:769 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista... |
OMIM:269150 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Broad thumb, Secundum atrial septal defect, Clinodactyly, Mitral regurgitation, Myopathy, Single ... |
OMIM:612541 |
| Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosi... |
ORPHA:2658 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Proteinuria, Renal insufficiency |
OMIM:610965 |
| Pemphigus Vulgaris |
|
Feeding difficulties in infancy, Weight loss, Feeding difficulties |
ORPHA:704 |
| Down Syndrome |
|
Atlantoaxial dislocation, Secundum atrial septal defect, Sandal gap, Tetralogy of Fallot, Atriove... |
ORPHA:870 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Scoliosis, Patent foramen ovale |
OMIM:619179 |
| Pfeiffer Syndrome Type 2 |
|
Limitation of joint mobility, Tracheomalacia, Respiratory distress, Intestinal malrotation, Hydro... |
ORPHA:93259 |
| Mucopolysaccharidosis, Type Ii |
|
Congestive heart failure, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion... |
OMIM:309900 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Bifid uvula, Feeding difficulties, Cleft palate |
OMIM:606164 |
| Pmm2-Cdg |
|
Increased circulating prolactin concentration, Aspiration pneumonia, Aplasia of the ovary, Elevat... |
ORPHA:79318 |
| Acute Promyelocytic Leukemia |
|
Hematuria, Abdominal pain, Weight loss, Anorexia |
ORPHA:520 |
| Bdv Syndrome |
|
Atrial septal defect |
OMIM:619326 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:615249 |
| Infantile Krabbe Disease |
|
Vomiting, Gastroesophageal reflux, Respiratory distress, Ankle clonus, Nasogastric tube feeding i... |
ORPHA:206436 |
| Relapsing Polychondritis |
|
Limitation of joint mobility, Renal insufficiency, Abnormal aortic valve morphology, Hematuria, P... |
ORPHA:728 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Micropenis, Ventriculomegaly, Hydrocephalus |
OMIM:614969 |
| Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke, Hydrocephalus |
ORPHA:447788 |
| Diphallia |
|
Absent thumb, Abnormal heart morphology, Butterfly vertebrae, Atrial septal defect, Hemivertebrae... |
ORPHA:227 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Dysphagia, Kyphoscoliosis |
ORPHA:98805 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum |
OMIM:618476 |
| Polycythemia Vera |
|
Early satiety, Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Portal vein thromb... |
ORPHA:729 |
| Halperin-Birk Syndrome |
|
Ventriculomegaly, Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum |
OMIM:618651 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
| Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Malnutrition, Weight loss, Odynophagia, Feeding difficulties |
ORPHA:221098 |
| Aymé-Gripp Syndrome |
|
Scoliosis, Reduced arm span, Congenital diaphragmatic hernia, Radioulnar synostosis, Tapered fing... |
ORPHA:1272 |
| Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Elevated circulating C-reactive... |
ORPHA:3243 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Sh... |
OMIM:276820 |
| Bardet-Biedl Syndrome 20 |
|
Preaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Atrial septal defect, Posta... |
OMIM:619471 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Oroticaciduria, Hyperglycinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Low plasma c... |
OMIM:620358 |
| Mirage Syndrome |
|
Microphallus, Recurrent urinary tract infections, Hydrocephalus, Intracranial hemorrhage, Hypospa... |
OMIM:617053 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short neck, Secundum atrial septal defect, Pulmonic stenosis, Skeletal muscle atrophy |
OMIM:615802 |
| Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria, Hyperammonemia, Increased circulating argininosuccinic acid, Hyper... |
OMIM:207900 |
| Pyomyositis |
|
Myositis, Testicular teratoma, Renal insufficiency |
ORPHA:764 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Growth delay, Failure to thrive, Parotit... |
OMIM:256040 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Hand clenching, Ventricular septal defect, Talipes equinovarus, Bradycardia, Retinal hemorrhage, ... |
OMIM:614653 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Broad thumb, Radial bowing, Natal tooth, Polydactyly affecting the 4th finger, Ov... |
ORPHA:672 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Talipes equinovarus, Patent ductus arteriosus, Atrial septal defect, Dextrocardia |
OMIM:277380 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Hypospadias, Hydrocephalus |
OMIM:601499 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Pelvis-Shoulder Dysplasia |
|
Hydronephrosis, Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus, Agenesis of corpus callosum |
OMIM:619320 |
| Pseudoaminopterin Syndrome |
|
Slender finger, Synostosis of carpal bones, Short thumb, Sacrococcygeal pilonidal abnormality, Ov... |
ORPHA:221120 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Ankle flexion contracture, Carpal osteolysis, Interphalangeal joint contracture of fi... |
OMIM:259600 |
| Arachnoid Cyst |
|
Enlarged fossa interpeduncularis, Urinary bladder sphincter dysfunction, Encephalocele, Subarachn... |
ORPHA:2356 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cholelithiasis, Recurrent otitis media, Hepatosplenomegaly, Cholecystitis, Chronic constipation, ... |
OMIM:301066 |
| Cockayne Syndrome B |
|
Limitation of joint mobility, Renal insufficiency, Cryptorchidism, Splenomegaly, Proteinuria, Mic... |
OMIM:133540 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions |
ORPHA:91359 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Dilated cardiomyopathy, Lateral ventricle dilatation, Agenesis of corpus callosum, Noncompaction ... |
OMIM:607872 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Oligohydramnios, Hypertension, Hydrocephalus |
OMIM:616914 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Coronary artery fistula, Neonatal death, Ventricular septal defect, Atrial septal defect, Patent ... |
OMIM:620024 |
| Postinfectious Vasculitis |
|
Elevated haptoglobin level, Orchitis, Hematuria, Proteinuria, Abnormal circulating protein concen... |
ORPHA:48435 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Abnormality of the parathyroid gland, Hyperostosis, Splenomegaly, Polycystic ... |
ORPHA:2969 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Boudin-Mortier Syndrome |
|
Aortic root aneurysm |
OMIM:619543 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Congenital hip dislocation, Hypoplastic coccygeal vertebrae, Dilation of Virchow-Robin spaces, At... |
OMIM:619512 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Short stature, Aortic root aneurysm, Decreased body weight |
OMIM:615349 |
| Desmosterolosis |
|
Ventriculomegaly, Renal agenesis, Agenesis of corpus callosum, Renal hypoplasia/aplasia, Hydrocep... |
ORPHA:35107 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Urinary retention, Hypomagnesemia, Obesity, Decreased urinary potassium, Co... |
ORPHA:79102 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Gastroesophageal reflux, Anteriorly placed anus, Cryptorchidism, Renal cyst, Keratoconjunctivitis... |
ORPHA:495875 |
| Cleidocranial Dysplasia 1 |
|
High, narrow palate, Spondylolysis, Kyphosis, Persistent open anterior fontanelle, Respiratory di... |
OMIM:119600 |
| Intermediate Uveitis |
|
Vasculitis, Psoriasiform dermatitis, Optic neuritis, Tubulointerstitial nephritis, Anterior uveitis |
ORPHA:279914 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydronephrosis, Ureteral triplication, Hydrocephalus |
OMIM:104350 |
| Acrodermatitis Enteropathica |
|
Failure to thrive, Malabsorption, Weight loss, Anorexia, Chronic diarrhea, Poor appetite |
ORPHA:37 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia |
ORPHA:93941 |
| Isolated Exencephaly |
|
Polyhydramnios |
ORPHA:563612 |
| Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
| Brucellosis |
|
Vomiting, Failure to thrive, Intrarenal abscess, Hypersplenism, Abnormality of the liver, Splenom... |
ORPHA:1304 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Short femur, Ventricular septal defect |
OMIM:617798 |
| Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Aortic root aneurysm |
OMIM:129600 |
| Familial Gestational Hyperthyroidism |
|
Diarrhea, Weight loss, Thyroid hyperplasia, Goiter |
ORPHA:99819 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:616538 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal renal tubule morphology, Hydrocephalus |
ORPHA:2720 |
| Felty Syndrome |
|
Hepatomegaly, Weight loss, Splenomegaly, Recurrent urinary tract infections |
ORPHA:47612 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Gastroesophageal reflux, Nasogastric tube feeding, Gastrointestinal dysmotility, Constipation, Pe... |
ORPHA:466943 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Weight loss |
ORPHA:86884 |
| Witteveen-Kolk Syndrome |
|
Small hand, Toe syndactyly, Clinodactyly, Male urethral meatus stenosis, Overlapping toe, Arachno... |
OMIM:613406 |
| Encephalocraniocutaneous Lipomatosis |
|
Aortic valve stenosis, Interrupted aortic arch, Abnormal cartilage morphology, Abnormal aortic mo... |
ORPHA:2396 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, Nephrocalcinosis, Communicating hydrocephalus, Cardiomyopathy |
OMIM:616084 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Dysphagia |
ORPHA:216866 |
| Cockayne Syndrome A |
|
Limitation of joint mobility, Hypogonadism, Renal insufficiency, Cryptorchidism, Thymic hormone d... |
OMIM:216400 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Secundum atrial septal defect |
OMIM:608688 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Vascular tortuosity... |
OMIM:614437 |
| Lynch Syndrome |
|
Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Malabsorption, Nausea ... |
ORPHA:144 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargem... |
ORPHA:79078 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
| Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
| Townes-Brocks Syndrome |
|
Hypospadias, Renal hypoplasia, Failure to thrive, Tetralogy of Fallot, Renal insufficiency, Crypt... |
ORPHA:857 |
| Aspartylglucosaminuria |
|
Abnormal vertebral morphology, Abnormal morphology of ulna, Beaking of vertebral bodies, Anterior... |
ORPHA:93 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Flexion contracture |
OMIM:618201 |
| Arterial Tortuosity Syndrome |
|
Aortic root aneurysm, Generalized arterial tortuosity, Ischemic stroke, Pulmonary artery stenosis... |
OMIM:208050 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2902 |
| Immunoglobulin A Vasculitis |
|
Renal insufficiency, Orchitis, Hematuria, Proteinuria, Glomerulopathy, Arthritis |
ORPHA:761 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Prominent fingertip pads, Sandal gap, Sacral dimple, Pulmonary hemorrhage, Joint contracture of t... |
ORPHA:363611 |
| Cap Myopathy |
|
Aortic root aneurysm |
ORPHA:171881 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Recurrent otitis media, Gastroesophageal reflux, Aortic root aneurysm |
ORPHA:449291 |
| Congenital Laryngeal Web |
|
Respiratory distress |
ORPHA:2374 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:612940 |
| Multiple Sulfatase Deficiency |
|
Mucopolysacchariduria, Hydrocephalus |
ORPHA:585 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Arterial dissection, Gastroesophageal reflux, Aortic root aneurysm, Cystocele, Nausea and vomitin... |
ORPHA:285 |
| Rheumatoid Arthritis |
|
Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Galloway-Mowat Syndrome 9 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis |
OMIM:619603 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Overlapping toe, Ventricular septal defect, Cerebral hemorrhage, Clinodactyly of the 5th finger, ... |
OMIM:616682 |
| Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231580 |
| Lowry-Maclean Syndrome |
|
Hypospadias, Hydrocephalus |
ORPHA:2409 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Small hand, Portal hypertension, Patent foramen ovale, Pulmonary arterial hypertension, Atrial se... |
OMIM:620005 |
| Renpenning Syndrome 1 |
|
Joint contracture of the hand, Synostosis of the proximal phalanx of the thumb with the 1st metac... |
OMIM:309500 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Patent ductus arteriosus, Atrial septal defect |
OMIM:602482 |
| Ramos-Arroyo Syndrome |
|
Xerostomia, Smooth tongue, Respiratory distress, Chronic constipation, Aganglionic megacolon, Fee... |
ORPHA:1051 |
| Rothmund-Thomson Syndrome, Type 2 |
|
High palate, Annular pancreas, Cryptorchidism, Anteriorly placed anus |
OMIM:268400 |
| Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Sinus tachycardia, Cardiomyopathy, Tricuspid regurgitation, Mitral regurgita... |
OMIM:253200 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Macroglossia, Atrial septal defect |
ORPHA:93947 |
| Townes-Brocks Syndrome 1 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Rectovaginal fistula, Anal stenosis, Duodenal atr... |
OMIM:107480 |
| Apert Syndrome |
|
Ventriculomegaly, Hypertension, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:87 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Low plasma citrulline, Elevated circulating ur... |
OMIM:311250 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Abnormal renal morphology, Hydrocephalus |
OMIM:239300 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Coarctation of aorta, Bilateral cryptorchidism, Horseshoe kidney, Recurrent otitis media, Obesity... |
ORPHA:1772 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Ventriculomegaly, Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Wa... |
OMIM:614643 |
| Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
| Fructose Intolerance, Hereditary |
|
Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia,... |
OMIM:229600 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Myelomeningocele, Hydronephrosis, Hydr... |
OMIM:258040 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Cachexia, Dysphagia, Gastrostomy tube feeding in infancy |
ORPHA:300605 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Macroglossia, Hip subluxation, Patent ductus art... |
OMIM:613457 |
| Kabuki Syndrome |
|
Abnormal localization of kidney, Ventriculomegaly, Crossed fused renal ectopia, Ureteropelvic jun... |
ORPHA:2322 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:613150 |
| Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation, Nephrolithiasis |
ORPHA:722 |
| Osteogenesis Imperfecta, Type Xviii |
|
Generalized osteoporosis, Recurrent fractures, Thin bony cortex, Joint hypermobility |
OMIM:617952 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Aortic regurgitation, Short 5th toe, 2-4 toe cutaneous syndactyly, Abnorma... |
ORPHA:268261 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Steatorrhea, Cachexia, Malabsorption, Chronic diarrhea |
ORPHA:3217 |
| Oromandibular Dystonia |
|
Weight loss, Dysphagia |
ORPHA:93958 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:220493 |
| Behçet Disease |
|
Renal insufficiency, Splenomegaly, Orchitis, Myositis, Glomerulopathy, Abnormal myocardium morpho... |
ORPHA:117 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Homocystinuria, Ventriculomegaly, Hydrocephalus |
ORPHA:395 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Respiratory distress, Abnormal rectum morphology, Sacral dimple, Feedi... |
ORPHA:2556 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Short neck, Broad toe, Right ... |
OMIM:180700 |
| Thymoma |
|
Weight loss, Glomerulonephritis, Ulcerative colitis |
ORPHA:99867 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, High palate, Feeding difficulties in infancy |
ORPHA:438216 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex |
OMIM:619638 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Inflammation of the large intestine, Diarrhea, Esophagitis, Chronic constipation, Colitis, Weight... |
OMIM:301074 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Coarctation of aorta, Right aortic arch |
OMIM:140850 |
| Hurler Syndrome |
|
Cardiomyopathy, Angina pectoris, Mucopolysacchariduria, Hydrocephalus, Hypertension |
ORPHA:93473 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Oligohydram... |
ORPHA:2729 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
| Acute Generalized Exanthematous Pustulosis |
|
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia |
ORPHA:293173 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Ventriculomegaly, Occipital encephalocele, Meningoencephalocele, Agenesis of corpus callosum, Hyd... |
OMIM:236670 |
| Phace Syndrome |
|
Aortic root aneurysm, Tetralogy of Fallot, Abnormal cerebral artery morphology, Coarctation of ao... |
ORPHA:42775 |
| Mucopolysaccharidosis Type 1 |
|
Hypertrophic cardiomyopathy, Mucopolysacchariduria, Hydrocephalus, Congestive heart failure |
ORPHA:579 |
| Ring Chromosome 13 Syndrome |
|
Anal atresia, Urogenital sinus anomaly, Hypoplasia of the gallbladder, Micropenis, High palate, H... |
ORPHA:96176 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Dysplastic pulmonary valve, Ventricular septal defect |
OMIM:619103 |
| Hereditary Late-Onset Parkinson Disease |
|
Weight loss, Dysphagia, Spastic/hyperactive bladder, Chronic constipation |
ORPHA:411602 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Elevated circulating creatine kinase concentration, Constipation, We... |
ORPHA:93672 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa... |
OMIM:618748 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Renal insufficiency, Weight loss, Anorexia, Abdominal... |
ORPHA:79430 |
| Agel Amyloidosis |
|
Xerostomia, Cardiomyopathy, Stage 5 chronic kidney disease, Proteinuria, Facial palsy |
ORPHA:85448 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Joubert Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:475 |
| Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Joint stiffness, Splenomegaly, Thin bony cortex |
OMIM:230600 |
| Pachyonychia Congenita |
|
Respiratory distress, Oral leukoplakia, Feeding difficulties |
ORPHA:2309 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block, Hydrocephalus |
OMIM:618590 |
| Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
| Alexander Disease |
|
Hypotension, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Sudden cardiac deat... |
ORPHA:58 |
| Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Ventricular septal defect, Hemivertebrae, Vertebral fusion, Patent ductus ar... |
OMIM:206900 |
| 1Q21.1 Microdeletion Syndrome |
|
Hydronephrosis, Vesicoureteral reflux, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:250989 |
| Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aortic valve stenosis, Webbed penis, Multicystic kidney dysplasia, Lateral ventricle dilatation, ... |
ORPHA:261537 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, H... |
ORPHA:261552 |
| Rabin-Pappas Syndrome |
|
Hydrocephalus, Retinal telangiectasia |
OMIM:620155 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly |
OMIM:228250 |
| Meningioma |
|
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Focal T2 hypo... |
ORPHA:2495 |
| Short Syndrome |
|
Weight loss, Poor appetite |
ORPHA:3163 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Aplasia of the distal phalanx of the 5th toe, Short finger, Oligohydramnios, Ventricular septal d... |
OMIM:608670 |
| Choreoacanthocytosis |
|
Dilated cardiomyopathy, Lateral ventricle dilatation |
ORPHA:2388 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Panhypopituitarism, Fusion of the left and... |
OMIM:610828 |
| Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Cubitus valgus, Short neck, Scoliosis, Pulmonic stenosis |
OMIM:601321 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Abnormal cortical bone morphology, Increased susceptibility to fractures, Hy... |
ORPHA:2769 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:457284 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus |
OMIM:259700 |
| Scorpion Envenomation |
|
Acute kidney injury, Ketonuria, Glycosuria, Rhabdomyolysis, Hypokalemia, Increased circulating cr... |
ORPHA:466677 |
| Gaucher Disease, Type Iiic |
|
Hydrocephalus, Mitral stenosis |
OMIM:231005 |
| Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
| Riddle Syndrome |
|
Enuresis nocturna, Diarrhea, Weight loss, Abdominal pain, Elevated circulating alpha-fetoprotein ... |
ORPHA:420741 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent nipple, Respiratory distress, Aplasia/Hypoplastia of the eccrine sweat glands, Hypoplastic... |
OMIM:305100 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Palmoplantar keratoderma, Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect... |
ORPHA:1071 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Horseshoe kidney, Penile hypospadias, Colpocephaly, Hypospadias, Congenital posterior urethral valve |
OMIM:620083 |
| Knobloch Syndrome |
|
Bifid ureter, Occipital encephalocele, Vesicoureteral reflux, Hydrocephalus |
ORPHA:1571 |
| Desmosterolosis |
|
Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus |
OMIM:602398 |
| Arteriosclerosis, Severe Juvenile |
|
Chronic kidney disease, Delayed puberty |
OMIM:208060 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
| Medulloblastoma |
|
Cerebellar hemorrhage, Hydrocephalus |
ORPHA:616 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Rhabdomyoly... |
OMIM:610505 |
| Rett Syndrome |
|
Cachexia, Gastroesophageal reflux, Constipation |
OMIM:312750 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:2001 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno... |
ORPHA:2072 |
| Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Pulmonary embolism, Hydrocephalus |
ORPHA:3205 |
| Trichothiodystrophy |
|
Cardiomyopathy, Multiple joint contractures, Ventricular septal defect, Clubbing, Thoracic kyphosis |
ORPHA:33364 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Abnormality of the uri... |
ORPHA:95699 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Anomalous origin of left subclavian artery, Abnormal heart morphology, Patent foramen ovale, Vent... |
ORPHA:438213 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Hydrocephalus, Decreased growth hormone responses to growth hormone-re... |
OMIM:101800 |
| Myoclonic Epilepsy Of Lafora 1 |
|
Hepatic failure |
OMIM:254780 |
| Branchiooculofacial Syndrome |
|
Gastroesophageal reflux, Kyphosis, Renal agenesis, Supernumerary nipple, Fusion of middle ear oss... |
OMIM:113620 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Decreased testicular size, Hypoplasia of penis, Cachexia, Obesity |
ORPHA:85293 |
| Coffin-Siris Syndrome 12 |
|
Slender finger, Broad thumb, Short thumb, Tetralogy of Fallot, Patent foramen ovale, Radioulnar s... |
OMIM:619325 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
2-3 toe syndactyly, Palmoplantar keratoderma, Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Mitral regu... |
OMIM:123700 |
| Malt Lymphoma |
|
Abdominal pain, Constipation, Nausea and vomiting, Weight loss |
ORPHA:52417 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Oligohydramnios, Ventricular septal defect, Cardiomegaly, Macroglossia, Patent ductus arteriosus,... |
ORPHA:96191 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Decreased muscle mass, Cryptorchidism, Thin bony cortex, Osteoporosis, Recurrent fractures, Hyper... |
OMIM:309583 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Hydrocephalus |
OMIM:614083 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Pulmonary arterial hypertension, Pallor, Splenomegaly |
ORPHA:667 |
| Monosomy 9Q22.3 |
|
Ventriculomegaly, Hydrocephalus, Nephroblastoma |
ORPHA:77301 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
| Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Short 5th finger, Abnormality of the palmar creases, Short thumb, Short finger, Single transverse... |
OMIM:619522 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Weight loss |
ORPHA:747 |
| Alzahrani-Kuwahara Syndrome |
|
Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Pulmonary artery sli... |
OMIM:619268 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Agenesis of corpus callosum, Dysplastic corpus callosum, Chordee, Colpocephaly, Urogenital sinus ... |
OMIM:618820 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus |
ORPHA:65285 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Long penis, Vomiting, Hypernatriuria, Failure to thrive, Decreased testicular size, Hyponatremia,... |
ORPHA:90794 |
| Cousin Syndrome |
|
Hydronephrosis, Hydranencephaly, Hydrocephalus |
OMIM:260660 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c... |
ORPHA:73224 |
| Chromosome 13Q14 Deletion Syndrome |
|
Overlapping toe, Patent foramen ovale, Ventricular septal defect, Single transverse palmar crease... |
OMIM:613884 |
| Atypical Werner Syndrome |
|
Rocker bottom foot, Limitation of joint mobility, Chondrocalcinosis, Finger clinodactyly, Scleros... |
ORPHA:79474 |
| Pancreatic And Cerebellar Agenesis |
|
Flexion contracture, Secundum atrial septal defect, Overlapping fingers |
OMIM:609069 |
| Neurofibromatosis, Type I |
|
Renal artery stenosis, Hydrocephalus, Spina bifida, Aqueductal stenosis, Hypertension |
OMIM:162200 |
| Lafora Disease |
|
Recurrent aspiration pneumonia, Hepatic failure, Nasogastric tube feeding |
ORPHA:501 |
| Amyotrophic Lateral Sclerosis |
|
Cachexia, Nausea and vomiting, Dysphagia |
ORPHA:803 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Joint contracture of the hand, Carpal synostosis, Cryptorchidism, Ovarian cyst, Polycystic ovarie... |
OMIM:201750 |
| Holoprosencephaly 9 |
|
Anterior pituitary agenesis, Alobar holoprosencephaly, Decreased response to growth hormone stimu... |
OMIM:610829 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:605627 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Short thumb, Patent foramen ovale, Tapered finger, Brachydactyly, Clinodactyly of the 5th finger,... |
ORPHA:477993 |
| Reactive Arthritis |
|
Inflammation of the large intestine, Diarrhea, Recurrent urinary tract infections, Weight loss, A... |
ORPHA:29207 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Chylothorax, Lymphedema, Pleural effusion, Atrial septal defect, Edema |
ORPHA:2526 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Mitral regurgitation, Patent foramen ovale |
OMIM:225250 |
| Wiedemann-Rautenstrauch Syndrome |
|
Generalized amyotrophy, Hypoplastic ilia, Secundum atrial septal defect, Clinodactyly, Slender lo... |
OMIM:264090 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Intestinal pseudo-obstruction, Gastroparesis, Weight loss, Dysphagia, Mildly elevated creatine ki... |
OMIM:607459 |
| Mend Syndrome |
|
Aortic valve stenosis, Crossed fused renal ectopia, Hydrocephalus, Dandy-Walker malformation |
OMIM:300960 |
| Opitz Gbbb Syndrome |
|
Wide anterior fontanel, Ventricular septal defect |
OMIM:300000 |
| Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Recurrent otitis media, Cryptorchidism, Decreased body weight, Chor... |
ORPHA:2152 |
| Immunodeficiency 31C |
|
Hepatomegaly, Diarrhea, Weight loss, Splenomegaly |
OMIM:614162 |
| Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
| Cerebrotendinous Xanthomatosis |
|
Prolonged neonatal jaundice, Cholelithiasis, Chronic diarrhea, Abnormal circulating enzyme concen... |
ORPHA:909 |
| Chronic Graft Versus Host Disease |
|
Diarrhea, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Urina... |
ORPHA:99921 |
| Classical Ehlers-Danlos Syndrome |
|
Arterial dissection, Gastroesophageal reflux, Aortic root aneurysm, Vomiting, Dilatation of the c... |
ORPHA:287 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Heparan sulfate excretion in urine, Hepatosplenomegaly, Peripheral arterial stenosis, Splenomegal... |
ORPHA:217085 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus |
OMIM:244400 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Heparan sulfate excretion in urine, Hepatosplenomegaly, Peripheral arterial stenosis, Splenomegal... |
ORPHA:217093 |
| Opitz-Kaveggia Syndrome |
|
Partial agenesis of the corpus callosum, Hypospadias, Hydrocephalus |
OMIM:305450 |
| Rat-Bite Fever |
|
Vomiting, Diarrhea, Parotitis, Weight loss, Pancreatitis |
ORPHA:31205 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Decreased thalamic volume, Hypoglycorrhachia |
ORPHA:168577 |
| Orofaciodigital Syndrome Type 3 |
|
Stage 5 chronic kidney disease |
ORPHA:2752 |
| Hellp Syndrome |
|
Hemoglobinuria, Proteinuria, Acute kidney injury |
ORPHA:244242 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Flexion contracture, Ventricular septal defect |
OMIM:619306 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Congestive heart failure, Dilatation of the cerebral arte... |
ORPHA:391487 |
| Orofaciodigital Syndrome Ii |
|
Hydrocephalus |
OMIM:252100 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
| Shprintzen-Goldberg Syndrome |
|
Ventriculomegaly, Communicating hydrocephalus, Mitral regurgitation |
ORPHA:2462 |
| Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Abnormal salivary gland morphology, Splenomegaly, Hypercalci... |
OMIM:181000 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90795 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Arrhythmia, Facial palsy, Cerebral edema |
ORPHA:68 |
| Early Infantile Epileptic Encephalopathy |
|
Broad phalanx of the toes, Short finger, Broad finger, Ventricular septal defect |
ORPHA:1934 |
| Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys |
OMIM:620047 |
| Familial Thrombocytosis |
|
Weight loss, Splenomegaly |
ORPHA:71493 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Ventricular septal defect, Metatarsus adductus, Hip dysplasia, Lower-limb join... |
ORPHA:513456 |
| Gabriele-De Vries Syndrome |
|
Sandal gap, Distal lower limb amyotrophy, Sydney crease, Patent foramen ovale, Distal arthrogrypo... |
ORPHA:506358 |
| Mucopolysaccharidosis Type 2 |
|
Hip osteoarthritis, Growth delay, Peripheral arterial stenosis, Splenomegaly, Abnormal aortic mor... |
ORPHA:580 |
| African Trypanosomiasis |
|
Urinary incontinence, Hepatosplenomegaly, Renal insufficiency, Abnormality of circulating cortiso... |
ORPHA:3385 |
| Systemic Lupus Erythematosus |
|
Hematuria, Proteinuria, Weight loss, Lupus nephritis, Anorexia, Pyuria |
ORPHA:536 |
| Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
| Mend Syndrome |
|
Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation |
ORPHA:401973 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90793 |
| Shwachman-Diamond Syndrome |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Hypopituitarism, Decreased response to ... |
ORPHA:811 |
| Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
| Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Oligosacchariduria, Recurrent urinary tract infections, Mitral regurgitatio... |
ORPHA:309282 |
| Kikuchi-Fujimoto Disease |
|
Elevated circulating hepatic transaminase concentration, Enlargement of parotid gland, Splenomega... |
ORPHA:50918 |
| Acute Liver Failure |
|
Acute kidney injury, Adrenal insufficiency, Hyperammonemia |
ORPHA:90062 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
OMIM:202010 |
| 6Q Terminal Deletion Syndrome |
|
Colpocephaly, Hypospadias, Phimosis |
ORPHA:75857 |
| Oculopharyngodistal Myopathy 1 |
|
Weight loss, Dysphagia, Elevated circulating creatine kinase concentration |
OMIM:164310 |
| Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Agenesis of corpus cal... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Agenesis of corpus cal... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Agenesis of corpus cal... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Agenesis of corpus cal... |
ORPHA:93924 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:617011 |
| Isolated Arrhinia |
|
Respiratory distress, Absent nasal septal cartilage |
ORPHA:1134 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Toe clinodactyly, Sandal gap, Ventricular septal defect, Short neck, Cutaneous syndactyly, Long f... |
OMIM:620330 |
| Neuroocular Syndrome 1 |
|
Prominent fingertip pads, Tibial torsion, Patent foramen ovale, Tapered finger, Deep palmar creas... |
OMIM:619539 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Micropenis, Ventriculomegaly, Communicating hydrocephalus |
ORPHA:457359 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hepatosplenomegaly, Weight loss |
ORPHA:85408 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Anorexia |
ORPHA:1969 |
| Nijmegen Breakage Syndrome |
|
Cachexia, Chronic diarrhea, Pollakisuria |
ORPHA:647 |
| Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus |
ORPHA:637 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Small hand, Secundum atrial septal defect, Patent ductus arteriosus, Finger clinodactyly |
OMIM:620455 |
| Wiedemann-Rautenstrauch Syndrome |
|
Increased circulating prolactin concentration, Recurrent urinary tract infections, Decreased resp... |
ORPHA:3455 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Chronic kidney disease, Septic arthritis, Painless fractures due to injury, Osteomyelitis, Hyperh... |
ORPHA:642 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Diarrhea, Pancreatic adenocarcinoma, Increased urinary cortisol level, Pheochromocytoma, Adrenal ... |
ORPHA:99889 |
| Dermatomyositis |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating creatine kinase con... |
ORPHA:221 |
| Neurofibromatosis Type 1 |
|
Abnormality of the upper urinary tract, Hypertension, Hydrocephalus |
ORPHA:636 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Ischemic stroke, Corneal neovascularization, Hydrocephalus, Cerebral hemorrhage, Retinal hemorrhage |
OMIM:175780 |
| Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Malnutrition, Splenomegaly, Cardiomegaly, Cachexia, Hepatomegaly |
ORPHA:75565 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus |
ORPHA:3042 |
| Proboscis Lateralis |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141099 |
| Stickler Syndrome |
|
Cachexia, Slender build, Feeding difficulties in infancy, Gastroesophageal reflux |
ORPHA:828 |
| Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Weight loss |
ORPHA:740 |
| Norrie Disease |
|
Cachexia, Cryptorchidism, Failure to thrive |
ORPHA:649 |
