| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... |
OMIM:620135 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology |
ORPHA:2849 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... |
OMIM:208540 |
| Caudal Duplication |
|
Abnormal penis morphology, Uterus didelphys, Cryptorchidism, Spinal cord lesion, Spina bifida, Ur... |
ORPHA:1756 |
| Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... |
OMIM:618652 |
| Von Hippel-Lindau Syndrome |
|
Pheochromocytoma, Multiple renal cysts, Spinal hemangioblastoma, Hepatic hemangioma, Pancreatic c... |
OMIM:193300 |
| Attrv30M Amyloidosis |
|
Nephropathy, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology |
ORPHA:85447 |
| Matthew-Wood Syndrome |
|
Renal hypoplasia, Annular pancreas, Abnormality of the uterus, Horseshoe kidney, Vesicoureteral r... |
ORPHA:2470 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Cardiomegaly, Cardiac myxoma, Jaundice |
ORPHA:615 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Hemochromatosis, Type 1 |
|
Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Cirrhosis... |
OMIM:235200 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Pancreatic hypoplasia, Exocrine pancreat... |
OMIM:137920 |
| Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri... |
ORPHA:210122 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic biliary duct... |
OMIM:601346 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Decreased carnitine level in ... |
OMIM:212140 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Jaundice, Cardiomegaly |
ORPHA:858 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Increased urinary O-linked sial... |
OMIM:256550 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... |
OMIM:300280 |
| Keratoderma Hereditarium Mutilans |
|
Hypogonadotropic hypogonadism, Abnormal spinal cord morphology |
ORPHA:494 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h... |
OMIM:252920 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilata... |
OMIM:614377 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis |
OMIM:253250 |
| Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatospleno... |
OMIM:267010 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy,... |
OMIM:201475 |
| Ciliary Dyskinesia, Primary, 53 |
|
Abdominal situs inversus, Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... |
OMIM:620642 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Renal... |
OMIM:130650 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Multicystic kidney dysplasia, Absent vas deferens, Abnormality of endocrine ... |
ORPHA:93111 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Micropenis,... |
OMIM:616897 |
| Double Outlet Left Ventricle |
|
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... |
ORPHA:3427 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion |
OMIM:614702 |
| Duodenal Atresia |
|
Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hepatic steatosis, Cardiomegaly, H... |
ORPHA:42 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Von Hippel-Lindau Disease |
|
Cardiomyopathy, Elevated urinary catecholamine level, Adrenal pheochromocytoma, Pancreatic islet ... |
ORPHA:892 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, C... |
ORPHA:465508 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Hepatosplenomegaly,... |
OMIM:602782 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Enuresis nocturna, Enuresis, Horseshoe kidney, Abnormal heart morphology, Pyelonephritis, Vesicou... |
OMIM:301111 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Pituitary growth hormone cell... |
ORPHA:730 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,... |
ORPHA:456312 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ambiguous genitalia, Pancreatic fibrosis, Ventricular septal defect |
OMIM:615503 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Renal insufficiency,... |
OMIM:263200 |
| Meckel Syndrome |
|
Accessory spleen, Multicystic kidney dysplasia, Pancreatic cysts, Situs inversus totalis, Cryptor... |
ORPHA:564 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis |
ORPHA:99931 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect |
OMIM:601005 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Renal insufficiency, Splenomegaly, Hematuria, Cardiomegaly, H... |
OMIM:603903 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Ketonuria, Dicarboxylic aciduria, Hepatic steatosis, Renal tubular acidosis, Cardiomegaly, Hepato... |
OMIM:255120 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Nephrotic syndrome |
OMIM:617713 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement, Nephrocalcinosis |
OMIM:614473 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Hepatic steatosis, H... |
ORPHA:228308 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology |
OMIM:266500 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Pancreatic pseudocyst |
OMIM:167800 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease, Polysplenia |
OMIM:211890 |
| Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypoplastic left heart, Parachute mitral valve, Annular pancreas, Hydroureter, Tetralogy of Fallo... |
OMIM:265380 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Left atrial enlargement, Right atrial enlargement, Cirrhosis, Left ventricular hype... |
ORPHA:57777 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Visceromegaly, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Hype... |
ORPHA:116 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... |
ORPHA:449432 |
| Mogs-Cdg |
|
Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hypertrophy, Atri... |
ORPHA:79330 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... |
ORPHA:103918 |
| 17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Shawl scrotum, Pa... |
ORPHA:261265 |
| Hsd10 Disease, Infantile Type |
|
Abnormal concentration of acylcarnitine in the urine, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:391428 |
| Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
| Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... |
OMIM:232220 |
| Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Hepatic steatosis, Increased hepatic... |
OMIM:614921 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Renal insufficiency, Lipid accumulation in hepatocytes, Hydronephrosis, H... |
OMIM:608836 |
| Spinal Arteriovenous Metameric Syndrome |
|
Spinal arteriovenous malformation, Abnormal spinal cord morphology, Urinary bladder sphincter dys... |
ORPHA:53721 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology |
ORPHA:99947 |
| Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Cardiomegaly |
ORPHA:349 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Biliary atresia, Acholi... |
OMIM:615710 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Horseshoe kidney, Abnormal heart morphology, Cryptorchidism, Ectopic kidney, Mi... |
OMIM:227646 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Ventricular septal defect, Ambiguous genitalia, Atrial septal defect, Pancreati... |
OMIM:263520 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Trisomy 8P |
|
Nephrocalcinosis, Annular pancreas, Tetralogy of Fallot, Abnormal left ventricle morphology, Cryp... |
ORPHA:264450 |
| Jacobsen Syndrome |
|
Annular pancreas, Cryptorchidism, Ventricular septal defect, Labial hypoplasia, Atrial septal def... |
OMIM:147791 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content |
OMIM:619259 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Acute kidney injury, Cardiomegaly |
OMIM:618886 |
| Senior-Loken Syndrome 8 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilatation, Hepatic cyst... |
OMIM:616307 |
| Sandhoff Disease |
|
Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal... |
OMIM:268800 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cystic renal d... |
OMIM:200995 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Proteinuria, Renal cyst... |
OMIM:208500 |
| Bohring-Opitz Syndrome |
|
Supernumerary nipple, Vesicoureteral reflux, Ventricular septal defect, Hyperechogenic pancreas, ... |
OMIM:605039 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Shaw... |
OMIM:616263 |
| Fryns Syndrome |
|
Ectopic pancreatic tissue, Polysplenia, Bifid scrotum, Cryptorchidism, Ventricular septal defect,... |
OMIM:229850 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:363705 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Mosaic Trisomy 20 |
|
Horseshoe kidney, Cryptorchidism, Abnormal mitral valve morphology, Ventricular septal defect, Dy... |
ORPHA:1724 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Distal Deletion 12Q |
|
Congenital hypertrophy of left ventricle, Annular pancreas, Pituitary adenoma, Vesicoureteral ref... |
ORPHA:96149 |
| Bone Marrow Failure Syndrome 3 |
|
Hyperechogenic pancreas, Pancreatic steatosis, Exocrine pancreatic insufficiency, Cryptorchidism |
OMIM:617052 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Igg4-Related Thyroid Disease |
|
Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Pancreatic fibrosis, Abnormal pit... |
ORPHA:64744 |
| Pearson Syndrome |
|
Glycosuria, Cardiomyopathy, Decreased response to growth hormone stimulation test, Exocrine pancr... |
ORPHA:699 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Congenital defec... |
ORPHA:2255 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:96191 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Multicystic kidney dysplasia, Annular pancreas, Cr... |
ORPHA:2308 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
| Amyloidosis, Hereditary Systemic 1 |
|
Urinary incontinence, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Aceruloplasminemia |
|
Elevated hepatic iron concentration, Abnormal pancreas morphology |
ORPHA:48818 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism |
OMIM:618143 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepa... |
ORPHA:308552 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Annular pancreas, Vesicoureteral reflux, Cryptorchidism, Patent foramen ovale, Ventricular septal... |
OMIM:616975 |
| Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:260370 |
| 1P36 Deletion Syndrome |
|
Dilated cardiomyopathy, Annular pancreas, Abnormal female external genitalia morphology, Abnormal... |
ORPHA:1606 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Floating-Harbor Syndrome |
|
Precocious puberty, Hypospadias, Nephrocalcinosis, Varicocele, Tetralogy of Fallot, Stage 5 chron... |
ORPHA:2044 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... |
OMIM:261740 |
| Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... |
OMIM:619991 |
| Atelosteogenesis Type I |
|
Multiple renal cysts, Abnormal pancreatic duct morphology |
ORPHA:1190 |
| Alveolar Echinococcosis |
|
Biliary cirrhosis, Abnormal mesentery morphology, Abnormal pericardium morphology, Portal hyperte... |
ORPHA:284 |
| Floating-Harbor Syndrome |
|
Varicocele, Nephrocalcinosis, Glandular hypospadias, Cryptorchidism, Mesocardia, Hydronephrosis, ... |
OMIM:136140 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... |
OMIM:610199 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Renal artery stenosis, Dilated cardiomyopathy |
OMIM:208000 |
| Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Urinary retention, Cardiomegaly, Abnormal cardiac septum morpho... |
ORPHA:97297 |
| Nephronophthisis-Like Nephropathy 1 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Chronic pancreatitis, Renal corticomedullary cy... |
OMIM:613159 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly |
OMIM:608013 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Parotitis, Cholestasis, Hepatosplenomegaly, Splenomegaly, Hepatic calcification... |
OMIM:620376 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... |
OMIM:245600 |
| Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617941 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa... |
OMIM:300967 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas, Atrial septal defect |
OMIM:618162 |
| Pearson Marrow-Pancreas Syndrome |
|
3-Methylglutaric aciduria, Exocrine pancreatic insufficiency, Macronodular cirrhosis, Renal Fanco... |
OMIM:557000 |
| Adrenomyeloneuropathy |
|
Urinary retention, Urinary bladder sphincter dysfunction, Adrenocorticotropic hormone excess, Dor... |
ORPHA:139399 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy |
ORPHA:268 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Decreased testicular size, Cryptorchidism, Patent foramen ovale, M... |
OMIM:300855 |
| Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas |
ORPHA:1305 |
| Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Hepatomegaly |
ORPHA:137675 |
| Mucolipidosis Ii Alpha/Beta |
|
Myelopathy, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepat... |
OMIM:252500 |
| Glycogen Storage Disease Ii |
|
Urinary incontinence, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
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Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Patent foramen ovale, Cardiomegaly, ... |
OMIM:620371 |
| Fucosidosis |
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Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptiduria |
OMIM:230000 |
| Mucopolysaccharidosis Type 3 |
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Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Splenomegaly, Abnormal m... |
ORPHA:581 |
| Schinzel-Giedion Syndrome |
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Annular pancreas, Abnormal heart morphology, Abnormality of the ureter, Streak ovary, Nephrolithi... |
ORPHA:798 |
| Lethal Acantholytic Erosive Disorder |
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Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Feingold Syndrome 1 |
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Accessory spleen, Annular pancreas, Polysplenia, Ventricular septal defect, Asplenia, Tricuspid s... |
OMIM:164280 |
| Interatrial Communication |
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Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Autosomal Recessive Polycystic Kidney Disease |
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Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... |
ORPHA:731 |
| Familial Idiopathic Dilatation Of The Right Atrium |
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Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr... |
ORPHA:1677 |
| Truncus Arteriosus |
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Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept... |
ORPHA:3384 |
| Tetrasomy 9P |
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Horseshoe kidney, Absent gallbladder, Cryptorchidism, Abnormal mitral valve morphology, Biliary a... |
ORPHA:3310 |
| Congenital Tracheomalacia |
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Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... |
ORPHA:95430 |
| Rothmund-Thomson Syndrome, Type 2 |
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Hypogonadism, Annular pancreas, Cryptorchidism |
OMIM:268400 |
| X-Linked Cerebral Adrenoleukodystrophy |
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Male hypogonadism, Myelopathy, Abnormal spinal cord morphology |
ORPHA:139396 |
| Absence Of The Pulmonary Artery |
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Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Cardiomegaly, Bicuspid aortic valve, Dural ectasia |
ORPHA:91387 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic stea... |
OMIM:618278 |
| Williams Syndrome |
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Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventricular septal defect, Bicuspid ao... |
ORPHA:904 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Cardiomegaly |
ORPHA:2463 |
| Acute Disseminated Encephalomyelitis |
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Myelitis, Abnormal spinal cord morphology, Viral hepatitis |
ORPHA:83597 |
| Yunis-Varon Syndrome |
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Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Cryptorchidism,... |
ORPHA:3472 |
| Abetalipoproteinemia |
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Hepatic fibrosis, Hepatic steatosis, Cardiomegaly, Cirrhosis, Hepatomegaly |
ORPHA:14 |
| Limb Body Wall Complex |
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Abnormal heart morphology, Abnormality of the liver, Ventricular septal defect, Abnormal spinal c... |
ORPHA:2369 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Abnormal spinal cord morphology |
ORPHA:88628 |
| Aicardi-Goutières Syndrome |
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Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Prolonged neonatal jaundice, Micro... |
ORPHA:51 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepa... |
ORPHA:365 |
| Congenital Total Pulmonary Venous Return Anomaly |
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Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
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Annular pancreas |
ORPHA:488642 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
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Parotitis, Splenomegaly, Cardiomegaly, Hepatomegaly, Epididymitis |
OMIM:256040 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Medullary nephrocalcinosis,... |
ORPHA:51608 |
| Tropical Endomyocardial Fibrosis |
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Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... |
ORPHA:75565 |
| Primary Sjögren Syndrome |
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Biliary cirrhosis, Parotitis, Chronic active hepatitis, Renal insufficiency, Glomerulonephritis, ... |
ORPHA:289390 |
| Superficial Siderosis |
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Functional abnormality of the bladder, Abnormal spinal cord morphology, Atrophy of the spinal cord |
ORPHA:247245 |
| Amoebiasis Due To Free-Living Amoebae |
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Myocardial necrosis, Abnormal spinal cord morphology |
ORPHA:68 |
| Singleton-Merten Syndrome 1 |
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Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... |
OMIM:182250 |
