| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Abnormal pancreas morphology, Cryptorchidism |
ORPHA:2849 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta... |
OMIM:208540 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Spinal hemangioblastoma, Papillary cystadenoma of the... |
OMIM:193300 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly |
ORPHA:85447 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Cholestasis, Bacterial endocarditis |
ORPHA:615 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Spina bifida, Cryptorchidism, Uterus didelphys, ... |
ORPHA:1756 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal ... |
ORPHA:2470 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper... |
OMIM:235200 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a... |
ORPHA:210122 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Martinez-Frias Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... |
OMIM:601346 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Nephrotic syndrome, Cardiomegaly |
OMIM:269920 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopat... |
OMIM:212140 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Proteinuria, Unilateral renal agenesis, Biliary tract abnormality, Renal hypoplasia,... |
OMIM:137920 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly |
OMIM:600649 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Jaundice, Cardiomegaly |
ORPHA:858 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... |
OMIM:256550 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology, Hypogonadotropic hypogonadism |
ORPHA:494 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Pancreatic cysts, Renal hypoplasia, Stage 5 chronic kidne... |
OMIM:614377 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Portal hypertension, Pancreatic cysts, Situs inversus totalis, Bili... |
OMIM:267010 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Hepatocellular... |
OMIM:201475 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficiency, Jaundice, Ap... |
ORPHA:93111 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Hepatic steatosis |
OMIM:255120 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Hy... |
OMIM:616897 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... |
OMIM:130650 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Hepati... |
ORPHA:42 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... |
ORPHA:465508 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H... |
OMIM:602782 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ambiguous genitalia, Ventricular septal defect, Pancreatic fibrosis |
OMIM:615503 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Decreased glomerular filtration rate, Pancreatic c... |
ORPHA:730 |
| Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... |
ORPHA:564 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Abnormal renal physiology, Cardiomegaly |
OMIM:266500 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema... |
OMIM:603903 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ... |
ORPHA:228308 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Glomerulonephritis, Hepatosplenomegaly |
ORPHA:99931 |
| Pancreatitis, Hereditary |
|
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency |
OMIM:167800 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Hypospadia... |
OMIM:265380 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia |
OMIM:211890 |
| Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Cholangitis, Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands... |
ORPHA:449432 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
| Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
| Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal... |
OMIM:232220 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Cardiomegaly, Cryptorchidism, Splenomegaly, Abnormal pancreas... |
ORPHA:116 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Cardiomegaly |
ORPHA:391428 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy... |
OMIM:614921 |
| Mogs-Cdg |
|
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, At... |
ORPHA:79330 |
| Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation, Urinary bladder sphincter dys... |
ORPHA:53721 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology |
ORPHA:99947 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... |
ORPHA:57777 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Cardio... |
OMIM:608836 |
| 17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Cryptorchidism, Ureterocele, Shawl scrotum, Pa... |
ORPHA:261265 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy... |
OMIM:615710 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ambiguous genitalia, Pancreatic fibrosis, Ventricular septal defect, Hepatic fibrosis, Polycystic... |
OMIM:263520 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
| Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Horseshoe kidney, Micropenis, Abn... |
OMIM:227646 |
| Trisomy 8P |
|
Abnormal atrioventricular connection, Cryptorchidism, Abnormal left ventricle morphology, Micrope... |
ORPHA:264450 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, 3-Methylglutaconic aciduria, Cardiomegaly |
OMIM:619259 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Pancreatic cysts, Stage 5 chronic kidney disease, Nephronophthisis, In... |
OMIM:616307 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Clitoral hypoplasia, Labial hypoplasia, A... |
OMIM:147791 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarge... |
OMIM:200995 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Pancreatic cysts... |
OMIM:208500 |
| Bohring-Opitz Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Vesicoureteral reflux, Hyperechogenic pancreas, ... |
OMIM:605039 |
| Aceruloplasminemia |
|
Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic iron concentration |
ORPHA:48818 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Shawl scrotum, Hepatic steatosis, Exocrine p... |
OMIM:616263 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, Hyposp... |
OMIM:229850 |
| Sandhoff Disease |
|
Hepatomegaly, Cardiomegaly, Urinary incontinence, Hepatosplenomegaly |
OMIM:268800 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Distal Deletion 12Q |
|
Unilateral cryptorchidism, Ectopic kidney, Pituitary adenoma, Biliary atresia, Micropenis, Congen... |
ORPHA:96149 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ureteral duplication, Ventricular sept... |
ORPHA:2255 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... |
ORPHA:64744 |
| Pearson Syndrome |
|
Hypoparathyroidism, Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Decreased response to... |
ORPHA:699 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
| Bone Marrow Failure Syndrome 3 |
|
Pancreatic steatosis, Cryptorchidism, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617052 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Urinary incontinence, Cardiomegaly |
OMIM:105210 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... |
ORPHA:308552 |
| Mosaic Trisomy 20 |
|
Ventricular septal defect, Cryptorchidism, Abnormal spinal cord morphology, Dysplastic tricuspid ... |
ORPHA:1724 |
| Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Cryptorchidism, Hypoplasti... |
ORPHA:2308 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly |
OMIM:617022 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:260370 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
| Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism |
OMIM:618143 |
| Floating-Harbor Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Tetralogy of Fallot, Renal cyst, Stage 5 chronic... |
ORPHA:2044 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Ventricular septal defect, Cryptorchidism, Renal cyst, Vesicoureteral reflux, Annula... |
OMIM:616975 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Abnormality of the spleen, Cry... |
ORPHA:1606 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ... |
OMIM:610199 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Atelosteogenesis Type I |
|
Multiple renal cysts, Abnormal pancreatic duct morphology |
ORPHA:1190 |
| Floating-Harbor Syndrome |
|
Hypospadias, Cryptorchidism, Glandular hypospadias, Nephrocalcinosis, Hydronephrosis, Congenital ... |
OMIM:136140 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Cholelithiasis, Annular panc... |
ORPHA:97297 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Atrial sep... |
OMIM:619991 |
| Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Abnormal pericardium morphology, Pancreatic cyst... |
ORPHA:284 |
| Gaucher Disease, Perinatal Lethal |
|
Splenomegaly, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly |
OMIM:608013 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617941 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Nephronophthisis-Like Nephropathy 1 |
|
Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic kidney disease, Renal corticomedullary cy... |
OMIM:613159 |
| Adrenomyeloneuropathy |
|
Urinary incontinence, Atrophy of the spinal cord, Abnormal spinal cord morphology, Adrenocorticot... |
ORPHA:139399 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pollakisuria, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Annular pancreas |
OMIM:618162 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Pancreatic fibrosis, Hypercalciuria, Macronodular cirrhosis, 3-Methylglutaric acidu... |
OMIM:557000 |
| Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas |
ORPHA:1305 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Oligosacchariduria |
OMIM:230000 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:232300 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries |
ORPHA:137675 |
| Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Abnormal heart... |
ORPHA:798 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def... |
OMIM:300855 |
| Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Polysplenia, Annular p... |
OMIM:164280 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Myelopathy, Mucopolysacchariduria, Hypertrophic cardiom... |
OMIM:252500 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... |
ORPHA:1677 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Mucopolysaccharidur... |
ORPHA:581 |
| Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Dextrocardia, Cryptorchidism, Jaundice, Abnormal spinal cord mo... |
ORPHA:3310 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology, Male hypogonadism |
ORPHA:139396 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Dural ectasia |
ORPHA:91387 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosple... |
OMIM:618278 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Cryptorchidism, Annular pancreas, Hypogonadism |
OMIM:268400 |
| Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Nephrocalcinosis, Vesicoureteral reflux... |
ORPHA:904 |
| Limb Body Wall Complex |
|
Ventricular septal defect, Spina bifida, Abnormal spinal cord morphology, Abnormal heart morpholo... |
ORPHA:2369 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:88628 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis |
ORPHA:14 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ... |
ORPHA:3472 |
| Aicardi-Goutières Syndrome |
|
Cardiomegaly, Micropenis, Hepatosplenomegaly, Prolonged neonatal jaundice, Hypertrophic cardiomyo... |
ORPHA:51 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... |
ORPHA:365 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas |
ORPHA:488642 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Epididymitis, Parotitis |
OMIM:256040 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Hepatic calcifica... |
ORPHA:51608 |
| Superficial Siderosis |
|
Atrophy of the spinal cord, Abnormal spinal cord morphology, Functional abnormality of the bladder |
ORPHA:247245 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Primary Sjögren Syndrome |
|
Renal insufficiency, Chronic active hepatitis, Glomerulonephritis, Abnormal spinal cord morpholog... |
ORPHA:289390 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal spinal cord morphology |
ORPHA:68 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
