Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Scapular winging, Fatty replacement of skeletal muscle, Reduced forced vital capacity, Respirator... |
OMIM:617232 |
Lethal Congenital Contracture Syndrome 3 |
|
Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency, Neonatal death, ... |
OMIM:611369 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... |
ORPHA:266 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... |
OMIM:619462 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp... |
OMIM:300717 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotroph... |
OMIM:253300 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy |
OMIM:613869 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmoni... |
OMIM:619433 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia |
OMIM:265150 |
Lethal Congenital Contracture Syndrome 4 |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Respiratory insufficie... |
OMIM:614915 |
Nemaline Myopathy 8 |
|
Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Myofibrillar myopathy, ... |
OMIM:615348 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
Congenital Myopathy 14 |
|
Death in infancy, Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... |
OMIM:618414 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,... |
OMIM:616081 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:1705 |
Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Coarctation of aorta, Hepatosplenomegaly, Telangiectasia, Biventricular h... |
ORPHA:101028 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia |
OMIM:178370 |
Glycogen Storage Disease Iv |
|
Decreased fetal movement, Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Hy... |
OMIM:232500 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus |
ORPHA:1208 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Reduced vital capacity, Quadriceps muscle weakness, Achilles tendon contracture... |
OMIM:603689 |
Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Increased variability in muscle fiber diameter, Respiratory failure, Death in c... |
OMIM:619334 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Pulmonary emb... |
ORPHA:90308 |
Congenital Heart Block |
|
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... |
ORPHA:60041 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C... |
ORPHA:2414 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Abnormality of the liver |
ORPHA:132 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Flexion contracture, Cardiomyopathy, Abnor... |
OMIM:608540 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Fetal Gaucher Disease |
|
Hepatomegaly, Decreased fetal movement, Fetal akinesia sequence, Splenomegaly, Abnormality of the... |
ORPHA:85212 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe... |
OMIM:614399 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrops fetal... |
ORPHA:163596 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Pro... |
OMIM:231100 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Hydrops fetalis, Polyhydramnios |
ORPHA:2204 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites, Hydrops fetalis |
ORPHA:295 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Upper limb muscle weakness, Respirat... |
ORPHA:90117 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites |
ORPHA:2123 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1354 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... |
ORPHA:1909 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching |
OMIM:606217 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... |
ORPHA:45452 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormality of the pulmonary artery, Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnorm... |
ORPHA:1166 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Death in infancy, Respiratory failure requiring assisted ventilation, Nemaline bodies, Increased ... |
OMIM:620265 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Nonimmune hydrops fetalis, ... |
ORPHA:367 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
Alpha-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Hydrops fetalis, Cholelithiasis |
ORPHA:846 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Premature birth, Cardiomegaly, Splenomegaly, Congestive heart failure, Hydrops feta... |
OMIM:269920 |
Sialidosis Type 2 |
|
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Flexion contracture, Hydrops fetalis, Pedal ... |
ORPHA:87876 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio... |
OMIM:618052 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Facial edema, Spleno... |
OMIM:256550 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Reduced vital capacity, Orthopnea, Facial palsy, Triceps weakness, Weakn... |
ORPHA:98913 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Cardiomyopathy, Resp... |
ORPHA:171433 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... |
OMIM:603830 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Hand muscle atrophy, Limb muscle weakness, Respiratory failure |
OMIM:600561 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Malformation of t... |
OMIM:208540 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Ragged-red muscle fibers |
OMIM:616794 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Situs inversus totalis, Patent ductus arteriosus, Biliary ... |
OMIM:267010 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Ventricular septal defect, Apnea, Respiratory failure, Hypertrophic cardiomyopathy |
OMIM:616277 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Hydrops fet... |
OMIM:618815 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough |
OMIM:263000 |
Nphp3-Related Meckel-Like Syndrome |
|
Polyhydramnios, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Abnormal bilia... |
ORPHA:3032 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... |
ORPHA:370968 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Weakness of facial musculature, Respiratory failure |
OMIM:618637 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Congenital contracture, Respiratory failure |
OMIM:225753 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Decreased fetal movement, Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Centrally nuclea... |
OMIM:255320 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Elevated circulating aspartate aminotransferase concentration, Elevated circula... |
OMIM:619386 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Flexion contract... |
OMIM:616867 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Chondrodysplasia, Blomstrand Type |
|
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctatio... |
OMIM:215045 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery |
ORPHA:895 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... |
OMIM:618780 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... |
ORPHA:254875 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... |
ORPHA:1209 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... |
ORPHA:75840 |
Congenital Enterovirus Infection |
|
Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Pericardial effusion, M... |
ORPHA:292 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... |
OMIM:620014 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Hydrops fetalis, Myocardial fibrosis, Peric... |
OMIM:253250 |
Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Respiratory insufficiency, Abnormal heart morphology |
OMIM:276950 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Facial diplegia, Respi... |
OMIM:611890 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory failure, Jaundice |
ORPHA:890 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Reduced forced vital capacity, Achilles ... |
OMIM:620249 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, EMG: myopathic abnormalities, Respiratory failure, Nocturnal hypoventilation, Hypertroph... |
OMIM:620326 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capillary leak, Abno... |
ORPHA:1041 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... |
OMIM:609015 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615373 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... |
OMIM:601927 |
Hyperekplexia 4 |
|
Respiratory failure, Flexion contracture, Distal arthrogryposis, Camptodactyly |
OMIM:618011 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Respi... |
OMIM:608647 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal aor... |
ORPHA:3405 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Hepatosplenomegaly, Respir... |
ORPHA:2590 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis... |
ORPHA:834 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Skeletal muscle atrophy, Elevated circulating as... |
OMIM:245400 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium |
OMIM:613759 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery |
ORPHA:1203 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension |
OMIM:619003 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... |
OMIM:606612 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... |
OMIM:617021 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, Co... |
ORPHA:2302 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth |
OMIM:600972 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Lymphatic Malformation 1 |
|
Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hydr... |
OMIM:153100 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal... |
OMIM:612999 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Premature birth, Portal hypertension, Biliary hyperp... |
ORPHA:567983 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Hepatomegaly, Dilated cardiomyopathy, Tachypnea, Respirat... |
OMIM:614299 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... |
OMIM:620203 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Hepatomegaly, Cardiomyopathy, Myopathy, Stillbirth, Respiratory failure, Decrea... |
OMIM:614922 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,... |
OMIM:310200 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Respiratory failure, Respiratory insufficiency, Knee flexion contracture |
OMIM:313420 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic morphology, Transposition o... |
ORPHA:1926 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating aspartate aminotransferase concentration, Nonimmune hydrops fetalis, Jaundic... |
OMIM:617049 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia |
ORPHA:306550 |
Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Descending aortic dissection, Mucoid extracellular matrix acc... |
ORPHA:229 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Dilated cardiomyopathy, Ragged-red mus... |
ORPHA:352447 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fle... |
ORPHA:1194 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... |
ORPHA:1677 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Pulmonary aterial intim... |
OMIM:178600 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Descending aortic dissection, Bronchiectasis, Small thenar eminence, Ascending ... |
OMIM:620080 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,... |
ORPHA:79301 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Decreased liver function, Neonatal death |
OMIM:618839 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Premature birth, Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Hypertrophi... |
OMIM:618835 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
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Respiratory distress, Death in infancy, Skeletal muscle atrophy, Abnormality of skeletal muscle f... |
OMIM:620278 |
Avian Influenza |
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Respiratory distress, Elevated hepatic transaminase, Miscarriage, Pneumonia, Productive cough, No... |
ORPHA:454836 |
Gm1-Gangliosidosis, Type I |
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Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Congestive heart failure, Dilated ca... |
OMIM:230500 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
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Spinal muscular atrophy, Camptodactyly of finger, Denervation of the diaphragm, Tachypnea, Distal... |
OMIM:604320 |
Boomerang Dysplasia |
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Decreased response to growth hormone stimulation test, Polyhydramnios, Cryptorchidism, Aplasia/Hy... |
ORPHA:1263 |
Lymphatic Malformation 6 |
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Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Splenomegaly, Lymp... |
OMIM:616843 |
Dubin-Johnson Syndrome |
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Jaundice, Biliary tract abnormality |
OMIM:237500 |
Congenital Heart Defects, Multiple Types, 6 |
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Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v... |
OMIM:613854 |
Ceroid Lipofuscinosis, Neuronal, 10 |
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Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Supravalvular Aortic Stenosis |
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Pulmonary artery stenosis, Peripheral arterial stenosis |
OMIM:185500 |
Combined Oxidative Phosphorylation Deficiency 51 |
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Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Isolated Biliary Atresia |
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Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Splenomegaly, Hydrops fetalis, Prolonged neonatal jaundice |
ORPHA:766 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
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Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Strid... |
OMIM:606071 |
Pyruvate Kinase Deficiency Of Red Cells |
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Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:266200 |
Combined Oxidative Phosphorylation Defect Type 27 |
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Ragged-red muscle fibers, Nonimmune hydrops fetalis |
ORPHA:477774 |
Lethal Congenital Contracture Syndrome 2 |
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Skeletal muscle atrophy, Ventricular septal defect, Dilated cardiomyopathy, Respiratory failure, ... |
OMIM:607598 |
Hardikar Syndrome |
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Intrahepatic bile duct cysts, Cholangitis, Premature rupture of membranes, Hepatic fibrosis, Atri... |
OMIM:301068 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Abnormal heart morphology, Respiratory failure, Decreased liver function, Hypertrophic cardiomyop... |
ORPHA:70472 |
Caroli Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Facial hy... |
ORPHA:308552 |
Ventricular Septal Defect 3 |
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Patent ductus arteriosus, Pulmonary artery stenosis |
OMIM:614432 |
Idiopathic Pulmonary Hemosiderosis |
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Hepatomegaly, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect... |
ORPHA:99931 |
Capillary Malformation-Arteriovenous Malformation |
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Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Cerebral arteriovenous malformation,... |
ORPHA:137667 |
Pneumocystosis |
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Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Congenital Rubella Syndrome |
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Patent ductus arteriosus, Abnormality of the pulmonary artery |
ORPHA:290 |
Combined Oxidative Phosphorylation Defect Type 23 |
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Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Hypertrophic card... |
ORPHA:444013 |
Alg1-Cdg |
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Cardiomyopathy, Respiratory failure, Decreased liver function, Abnormal heart morphology |
ORPHA:79327 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
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Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pne... |
OMIM:620296 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
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Tetralogy of Fallot, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
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Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Hy... |
ORPHA:69735 |
Alg8-Cdg |
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Elevated hepatic transaminase, Premature birth, Edema, Hydrops fetalis, Macroglossia, Camptodacty... |
ORPHA:79325 |
Aorto-Ventricular Tunnel |
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Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... |
ORPHA:3400 |
S-Adenosylhomocysteine Hydrolase Deficiency |
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Elevated hepatic transaminase, Hydrops fetalis, Cardiomyopathy, Abnormality of the liver, Muscula... |
ORPHA:88618 |
Scimitar Syndrome |
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Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Patent ductus... |
ORPHA:185 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
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Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Galactosialidosis |
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Conjunctival telangiectasia, Cherry red spot of the macula, Nonimmune hydrops fetalis, Hepatosple... |
OMIM:256540 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Hepatomegaly, Myopathy, Respiratory failure, Cirrhosis, Hepatic steatosis |
ORPHA:363400 |
Gjc2-Related Late-Onset Primary Lymphedema |
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Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, V... |
ORPHA:568051 |
Primary Ciliary Dyskinesia |
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Neonatal respiratory distress, Abnormal atrial arrangement, Atrial situs ambiguous, Productive co... |
ORPHA:244 |
Achondrogenesis |
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Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:932 |
Cholestasis-Lymphedema Syndrome |
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Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundic... |
ORPHA:1414 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
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Recurrent respiratory infections, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch... |
ORPHA:99050 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
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Respiratory distress, Hepatomegaly, Increased hepatocellular lipid droplets, Respiratory insuffic... |
OMIM:220110 |
Mucopolysaccharidosis Type 7 |
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Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Arteriovenous malformation, Ascites |
ORPHA:584 |
Neuropathy, Congenital Hypomyelinating, 3 |
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Limb joint contracture, Flexion contracture, Respiratory insufficiency, Facial diplegia, Respirat... |
OMIM:618186 |
Triosephosphate Isomerase Deficiency |
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Respiratory distress, Death in infancy, Skeletal muscle atrophy, Respiratory insufficiency due to... |
OMIM:615512 |
Heterotaxy, Visceral, 4, Autosomal |
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Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Peripartum Cardiomyopathy |
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Orthopnea, Left atrial enlargement, Crackles, Myocarditis, Dyspnea, Dilated cardiomyopathy, Asthm... |
ORPHA:563 |
Myofibrillar Myopathy 11 |
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Centrally nucleated skeletal muscle fibers, Z-band streaming, Coarctation of aorta, Calf muscle h... |
OMIM:619178 |
Farber Disease |
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Elevated hepatic transaminase, Skeletal muscle atrophy, Intrahepatic cholestasis with episodic ja... |
ORPHA:333 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Hy... |
OMIM:616897 |
Central Hypoventilation Syndrome, Congenital, 3 |
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Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Proximal Spinal Muscular Atrophy |
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Skeletal muscle atrophy, Neonatal respiratory distress, Multiple joint contractures, Hypoventilat... |
ORPHA:70 |
Campomelia, Cumming Type |
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Hepatomegaly, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrops fetalis, Oligohy... |
ORPHA:1318 |
Pontocerebellar Hypoplasia Type 1 |
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Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita, Congenital lary... |
ORPHA:2254 |
Achondrogenesis Type 1B |
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Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93298 |
Mirizzi Syndrome |
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Elevated hepatic transaminase, Tachycardia, Pancreatitis, Jaundice, Cholesterol gallstones, Chole... |
ORPHA:521219 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
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Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Lymphatic Malformation 13 |
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Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal peri... |
OMIM:620244 |
Mosaic Trisomy 9 |
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Ventricular septal defect, Dextrocardia, Polyhydramnios, Abnormal heart valve morphology, Aspleni... |
ORPHA:99776 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Bicuspid aortic valve, Polyhydramnios, Parachute mitral valve, Asplenia, Neonatal death, Atrial s... |
OMIM:265380 |
Achondrogenesis Type 1A |
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Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93299 |
Severe Congenital Nemaline Myopathy |
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Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... |
ORPHA:171430 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Aortic dissection |
OMIM:135580 |
Ulnar Agenesis And Endocardial Fibroelastosis |
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Neonatal death, Hydrops fetalis, Endocardial fibroelastosis |
OMIM:276822 |
Gm1 Gangliosidosis |
|
Premature birth, Camptodactyly of finger, Ventricular septal defect, Splenomegaly, Patent ductus ... |
ORPHA:354 |
Cardiac Valvular Dysplasia 1 |
|
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... |
OMIM:212093 |
Immunodeficiency 54 |
|
Splenomegaly, Hepatomegaly, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Autosomal Recessive Polycystic Kidney Disease |
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Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... |
ORPHA:731 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
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Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Acute pan... |
ORPHA:26791 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Left ventricular noncompaction cardiomyopathy, Nonimmune hydrops fetalis, Cardiac arrest, Fetal p... |
OMIM:620167 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Autosomal Erythropoietic Protoporphyria |
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Cholelithiasis, Decreased liver function, Cirrhosis, Edema |
ORPHA:79278 |
Low Phospholipid-Associated Cholelithiasis |
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Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Meckel Syndrome, Type 6 |
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Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts |
OMIM:612284 |
Mitochondrial Trifunctional Protein Deficiency |
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Rhabdomyolysis, Respiratory insufficiency, Cholestasis, Cardiomyopathy, Skeletal myopathy, Respir... |
ORPHA:746 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure, Hepatomegaly |
OMIM:610678 |
Benign Recurrent Intrahepatic Cholestasis |
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Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
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Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
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Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
Lethal Congenital Contracture Syndrome 10 |
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Torticollis, Overriding aorta, Ventricular septal defect, Fetal akinesia sequence, Cardiomegaly, ... |
OMIM:617022 |
Acute Interstitial Pneumonia |
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Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemi... |
ORPHA:79126 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Hypoplasia of the thymus, Endocardial fibroelast... |
OMIM:619313 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnio... |
OMIM:608013 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary artery atresia |
OMIM:108900 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
Meckel Syndrome, Type 4 |
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Atrial septal defect, Ventricular septal defect, Bile duct proliferation |
OMIM:611134 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
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Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
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Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... |
OMIM:610338 |
Hypoplastic Left Heart Syndrome 1 |
|
Coarctation of aorta |
OMIM:241550 |
Staphylococcal Necrotizing Pneumonia |
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Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Scedosporiosis |
|
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Abnormal respiratory system physiolog... |
ORPHA:449280 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:178320 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation |
OMIM:611561 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
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Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Trisomy 1Q |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... |
ORPHA:261344 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Hepatocellular n... |
OMIM:256000 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Death in infancy, Neonatal respiratory distress, Hepatomegaly, Apn... |
OMIM:608836 |
Hereditary Elliptocytosis |
|
Splenomegaly, Jaundice, Hydrops fetalis, Prolonged neonatal jaundice, Cholelithiasis |
ORPHA:288 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Atrial Septal Defect 4 |
|
Coarctation of aorta |
OMIM:611363 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... |
OMIM:618329 |
Dextrocardia |
|
Congenital malformation of the great arteries, Abnormality of the pulmonary artery, Abnormal lung... |
ORPHA:1666 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atria... |
OMIM:619534 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Polyhydramnios, Splenomegaly, Patent du... |
OMIM:613610 |
Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Decreased fetal movement, Scapular winging, Hip contracture, Nonimmune hydrops feta... |
OMIM:620369 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Polyhydramnios, Fetal ascites... |
OMIM:261515 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis |
ORPHA:70578 |
Trisomy 13 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrops fetalis, Atrial sept... |
ORPHA:3378 |
Snakebite Envenomation |
|
Epistaxis, Rhabdomyolysis, Respiratory failure, Respiratory paralysis, Muscle fiber necrosis |
ORPHA:449285 |
Truncus Arteriosus |
|
Pulmonary edema, Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery fr... |
ORPHA:3384 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure, Hepatomegaly |
OMIM:614862 |
Congenital Heart Defects, Multiple Types, 4 |
|
Tetralogy of Fallot, Coarctation of aorta |
OMIM:615779 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure |
OMIM:620166 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency du... |
OMIM:618291 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Nonimmune hydrops fetalis, Edema, Peri... |
OMIM:212065 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Skeletal muscle atrophy, Myositis, Biliary atresia, Calf muscle hypertrophy, Proximal muscle weak... |
ORPHA:565899 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Retinal t... |
ORPHA:774 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Hepatomegaly, Splenomegaly, Jaundice, Respirator... |
OMIM:607625 |
Kaposi Sarcoma |
|
Venous insufficiency, Abnormality of the spleen, Abnormality of the liver, Lymphedema |
ORPHA:33276 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormality of the pulmonary artery |
ORPHA:1131 |
Alg9-Cdg |
|
Thickened nuchal skin fold, Hepatomegaly, Decreased fetal movement, Tricuspid regurgitation, Tort... |
ORPHA:79328 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Ventricular septal defect, Lymphe... |
OMIM:153400 |
Myotonic Dystrophy 1 |
|
Decreased fetal movement, Atrial flutter, Atrial fibrillation, First degree atrioventricular bloc... |
OMIM:160900 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Recurrent bronchiolitis, Coarctation of aorta |
OMIM:616069 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Polyhydramnios, Edema, Fetal distress, Cardiomegaly, Abno... |
ORPHA:51608 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Splenomegaly, Hepatomegaly, Hydrops fetalis, Prolonged neonatal jaundice |
OMIM:224120 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hepatic fibrosis, Hydrops fetalis |
OMIM:614091 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation |
OMIM:603194 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... |
OMIM:211600 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Intracranial hemorrhage, Aortic root aneurysm, Aortic atherosclerotic lesion, Emphysema, Abnormal... |
ORPHA:363618 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Nephronophthisis 2 |
|
Situs inversus totalis, Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... |
OMIM:620294 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ... |
ORPHA:77261 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Skeletal muscle atrophy, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Gm1 Gangliosidosis Type 1 |
|
Cherry red spot of the macula, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, Macroglossia,... |
ORPHA:79255 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... |
OMIM:126320 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Flexion contracture... |
OMIM:253220 |
Achondrogenesis, Type Ii |
|
Stillbirth, Polyhydramnios, Hydrops fetalis, Edema |
OMIM:200610 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Edema |
OMIM:177000 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Type 2 muscle fiber atrophy, Respiratory failure, Respiratory in... |
OMIM:613845 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Respir... |
ORPHA:258 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Hypertrophic cardiomyopathy |
OMIM:613673 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Hepatomegaly, Dyspnea, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hyper... |
OMIM:610505 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:2516 |
Heterotaxy, Visceral, 8, Autosomal |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... |
OMIM:617205 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Abnormal sweat g... |
OMIM:607823 |
Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Respiratory failure, Abnormality of masticatory muscle |
ORPHA:98755 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Hydrops fetalis |
OMIM:616738 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... |
OMIM:208500 |
Congenital Fiber-Type Disproportion Myopathy |
|
Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsiflexor weakness, H... |
ORPHA:2020 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hydrocele testis, Varicose veins, A... |
ORPHA:79452 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Hip contracture, Bilateral fetal pyelectasis, Polyhydramnios, Microvesicular hepati... |
OMIM:300868 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Situs inversus totalis, Asplenia, Cholest... |
OMIM:615415 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoparathyroidism, Pancreatic fibrosis, Decreased r... |
ORPHA:699 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron conc... |
OMIM:619991 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:203700 |
Familial Multiple Nevi Flammei |
|
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... |
ORPHA:624 |
Tempi Syndrome |
|
Intracranial hemorrhage, Transudative pleural effusion, Abnormality of the pulmonary vasculature |
ORPHA:284227 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Abnormal coronary artery morphology, Patent ductus arter... |
ORPHA:860 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Portal hypertension, Cholestasis, Dilatation of the cerebral arter... |
OMIM:613658 |
Greenberg Dysplasia |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, I... |
OMIM:215140 |
Hadziselimovic Syndrome |
|
Pulmonary artery atresia, Tetralogy of Fallot |
OMIM:612946 |
Scleromyxedema |
|
Abnormal coronary artery morphology, Transient ischemic attack, Abnormal lung morphology, Abnorma... |
ORPHA:167635 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Death in infancy, Giant cell hepatitis, Ventricular septal defect,... |
OMIM:208085 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Rhabdomyolysis, Stroke-like episode, Hematoc... |
ORPHA:79095 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Respiratory failure... |
OMIM:618804 |
Pagod Syndrome |
|
Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Abnormal aortic morphology, Pulmona... |
ORPHA:991 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... |
OMIM:235510 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly |
OMIM:618838 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole... |
OMIM:618775 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Distal amyotrophy, Flexion contracture, Respiratory failure |
OMIM:616505 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Pneumothorax, Cardiomyopathy, Respiratory failure, Hepatic steatosis |
ORPHA:445038 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehyd... |
ORPHA:79282 |
Metatropic Dysplasia |
|
Arthrogryposis multiplex congenita, Respiratory failure, Flexion contracture, Respiratory insuffi... |
OMIM:156530 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity |
OMIM:616166 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Mucoid ex... |
ORPHA:91387 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Abnormal hemidiaphragm morphology, Pneumothorax, Abnormal pulmo... |
ORPHA:2257 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cryptorchidism, Flexion contracture, Hydrops fetalis, Abnormal heart morphology, Single umbilical... |
ORPHA:1865 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Osteogenesis Imperfecta, Type Ii |
|
Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta... |
OMIM:175050 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Aspiration pneumonia, Neona... |
OMIM:619167 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Ventricular septal defect |
OMIM:617895 |
Conotruncal Heart Malformations |
|
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... |
OMIM:217095 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Camptodactyly of finger, Malformation of the hepatic ductal plate, Asplenia, Sp... |
OMIM:249000 |
Proteus Syndrome |
|
Splenomegaly, Venous malformation |
OMIM:176920 |
Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Patent ductus arteriosus, Alveola... |
OMIM:601186 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulmonary lymphangiectasia, Hydrocele tes... |
OMIM:137940 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Foot joint contracture, Facial palsy, Hyperechogenic pancreas, Achilles tendon cont... |
ORPHA:456312 |
Mgat2-Cdg |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... |
ORPHA:79329 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Angioosteohypotrophic Syndrome |
|
Venous malformation, Prominent superficial veins, Telangiectasia of the skin, Edema |
ORPHA:75508 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Respiratory failure, Atrial septal defect, Patent foramen ovale, Limb hyp... |
OMIM:620327 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Hydrops fetalis, Hepatic... |
OMIM:263520 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle ... |
ORPHA:365 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Mitral valve calcification, Increased pulmonary vascular resistance, Nonproductive ... |
ORPHA:60025 |
Platyspondylic Dysplasia, Torrance Type |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:85166 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulm... |
ORPHA:1120 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hydrops fetalis, Macronodular c... |
OMIM:557000 |
Phaver Syndrome |
|
Pulmonary artery atresia, Hypoplastic aortic arch, Camptodactyly of finger, Coarctation of aorta |
ORPHA:2876 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea,... |
OMIM:618278 |
Heterotaxy, Visceral, 7, Autosomal |
|
Right aortic arch, Pulmonary artery hypoplasia, Interrupted inferior vena cava with azygous conti... |
OMIM:616749 |
16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta |
ORPHA:261243 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Atrioventricular ... |
ORPHA:210122 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m... |
ORPHA:355 |
Fibrochondrogenesis 1 |
|
Hydrops fetalis, Stillbirth, Camptodactyly, Joint contracture of the hand, Patent foramen ovale |
OMIM:228520 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Polyhydramnios, Hepatitis, Hypoplasia of the thymus, Congenital pulmon... |
ORPHA:436252 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Hepatitis, Cholestasis, Acute hepatic steatosis, Aortic atherosclero... |
ORPHA:209902 |
Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Abnormal lung lobation, Transposition of the great arteries, ... |
OMIM:208530 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:745 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Hepatomegaly, Respiratory failure |
ORPHA:3226 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Torticollis, Respiratory failure, Death in childhood |
OMIM:617186 |
Von Willebrand Disease |
|
Venous insufficiency, Abnormal mitral valve morphology |
ORPHA:903 |
Noonan Syndrome With Multiple Lentigines |
|
Scapular winging, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormality of the pulmon... |
ORPHA:500 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Cholelithiasis, Hypertrophic cardiomyopathy |
ORPHA:848 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu... |
OMIM:200600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy |
OMIM:616538 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Hypertension, Cirrhosis... |
OMIM:215600 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of t... |
ORPHA:171 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Aplasia/Hypoplasia o... |
ORPHA:646 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Pulmonary artery atresia, Truncus arteriosus |
ORPHA:401935 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Apnea, Flexion contracture, Elbow flexion contracture, Respiratory failure, Arth... |
OMIM:617301 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology |
ORPHA:438274 |
Hennekam Syndrome |
|
Camptodactyly of finger, Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectas... |
ORPHA:2136 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Lower limb amyotrophy, Abnormal morphology of musculature of pharynx |
ORPHA:280210 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Skeletal muscle atrophy, Hepatomegaly, Apnea, Splenomegaly, Ragged-red muscle f... |
OMIM:252010 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Arthrogryposis multiplex congenita, Nonimmune hydrops fetalis |
OMIM:618265 |
Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Meacham Syndrome |
|
Aplasia of the right hemidiaphragm, Patent ductus arteriosus, Partial anomalous pulmonary venous ... |
OMIM:608978 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:619525 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology |
ORPHA:1455 |
Meige Disease |
|
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem... |
ORPHA:90186 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta |
OMIM:212090 |
Schneckenbecken Dysplasia |
|
Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:269250 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Decreased fetal movement, Multiple joint contractures, Congenital diaphragmatic hernia, Weakness ... |
OMIM:265000 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... |
ORPHA:980 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, High-output c... |
ORPHA:231222 |
Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Malignant Atrophic Papulosis |
|
Abnormal pericardium morphology, Peritonitis, Respiratory failure, Abnormal myocardium morphology... |
ORPHA:679 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Asthma, Recurrent... |
ORPHA:209905 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion |
ORPHA:542323 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonary arter... |
OMIM:618316 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:743 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Decreased muscle mass, Hip contracture, Premature birth, Nonimmune hydr... |
OMIM:208150 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomyopathy, Respiratory failure, Cardiomegaly |
ORPHA:158687 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Hepatosplenomegaly, Respiratory failure, Stillbirth, He... |
OMIM:259720 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... |
OMIM:306955 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... |
OMIM:614823 |
Poliomyelitis |
|
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Hypoplasia of the mu... |
ORPHA:2912 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Coarctation of aorta, Pulmonary artery atresia, Truncus arteriosus... |
ORPHA:3426 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... |
OMIM:616482 |
Meacham Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulm... |
ORPHA:3097 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Skeletal muscle atrophy, Respiratory failure, Death in childhood |
OMIM:618252 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Liver abscess, Abnormal heart valve morphology, Pneumonia, Pr... |
ORPHA:31204 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypertension, Stroke, Cho... |
OMIM:603903 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Vasculitis, Hepatitis, Hydrops fetalis, Hepatocellular... |
ORPHA:3261 |
Listeriosis |
|
Respiratory distress, Pericarditis, Liver abscess, Miscarriage, Pneumonia, Myocarditis, Jaundice,... |
ORPHA:533 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Congenital diaphragmatic hernia, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Atrial s... |
ORPHA:2255 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Respiratory failure |
ORPHA:83313 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Decreased fetal movement, Patent ductus arteriosus, Atrial septal ... |
OMIM:614886 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Coa... |
OMIM:619702 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Rig... |
ORPHA:100085 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Pericardial effusion, Abnormal myocardium morphology, ... |
ORPHA:77259 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Muscle fiber atrophy, Decreased muscle mass, Congestive heart failure, Elbow flexion contracture,... |
ORPHA:1900 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Transient ischemic attack, Patent ductus arteriosus, Anomalous ... |
ORPHA:1330 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia, Coarctation of aorta |
ORPHA:268249 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Abnormal aortic morphology |
ORPHA:3222 |
Thoracic Outlet Syndrome |
|
Varicose veins, Edema |
ORPHA:97330 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Oligohy... |
OMIM:617667 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Congestive heart failure, Arteriovenous malformation, Ovarian neoplasm |
ORPHA:137608 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Flexion contracture, Macroglossia, Respiratory failure, Camptodactyly, Flexion c... |
ORPHA:254528 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Death in childhood |
OMIM:619847 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Heart Block, Congenital |
|
Cardiomyopathy, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular node |
OMIM:234700 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Arterial tortuosity, Pneumothorax, Ascending tubular aorta aneurysm, Aortic root ane... |
OMIM:614816 |
Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Cholelithiasis, Jaundice, Increased variability in muscle fibe... |
OMIM:232800 |
15Q11.2 Microdeletion Syndrome |
|
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta |
ORPHA:261183 |
North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
Congenital Tracheomalacia |
|
Pneumonia, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Pneumothorax, Bro... |
ORPHA:95430 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest |
OMIM:617248 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Recurrent pneumonia,... |
ORPHA:496641 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Hypovolemic shock, Arrhythmia, Dehydration |
ORPHA:171876 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Myocarditis, Dyspnea, Dilated cardiomyopathy, Cardiorespiratory arrest, Res... |
ORPHA:3342 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Anomalous pulmonary venous return |
ORPHA:392 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis |
OMIM:235700 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Myopathy, Respir... |
ORPHA:506 |
Velocardiofacial Syndrome |
|
Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulmonary artery atresia, Tetra... |
OMIM:192430 |
Lymphedema-Distichiasis Syndrome |
|
Varicose veins, Patent ductus arteriosus, Abnormality of the pulmonary vasculature |
ORPHA:33001 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Shoulder girdle muscle weakness |
ORPHA:206436 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestasis, Abnorma... |
ORPHA:79303 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal... |
OMIM:600001 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Contracture of the distal interphalangeal join... |
ORPHA:83617 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Coarctation of aorta |
ORPHA:1923 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Myopathy, Respiratory failure, Hepatic... |
ORPHA:14 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Annular pancreas, Panc... |
OMIM:615710 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Right aortic arch, Pulmonary artery hypoplasia, Double outlet right ventricle, Anomalous origin o... |
ORPHA:2326 |
Blomstrand Lethal Chondrodysplasia |
|
Premature birth, Hydrops fetalis, Polyhydramnios, Coarctation of aorta |
ORPHA:50945 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Abnormal ao... |
ORPHA:251071 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia, Hepatomegaly |
OMIM:617809 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Abnormal in... |
ORPHA:186 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital p... |
OMIM:611812 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Facial palsy, Pneumonia, Hypercapnia, Dyspnea... |
ORPHA:79138 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Cryptorchidism, Increased nuchal translu... |
ORPHA:3472 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary artery hypoplasia, Aplasia o... |
OMIM:620025 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... |
OMIM:611881 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Congenital diaphragmatic hernia, Hydrops fetalis, Polyhydramnios |
OMIM:616546 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Patent ductus arteriosus, Absent pulmonary artery, Tetralogy of Fallot, Coarctation of aorta |
OMIM:600460 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Pulmonary artery hypoplasia, Congenital diaphragmatic hernia |
OMIM:616777 |
Thymic Carcinoma |
|
Abnormal vena cava morphology, Palpebral edema, Edema |
ORPHA:99868 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation, Lymphedema |
OMIM:613089 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Ascites, ... |
ORPHA:100086 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... |
OMIM:610655 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating growth ... |
ORPHA:97278 |
Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:182900 |
Dehydrated Hereditary Stomatocytosis |
|
Edema, Portal vein thrombosis, Splenomegaly, Intermittent jaundice, Pulmonary venous hypertension... |
ORPHA:3202 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Prominent superficial veins, Abnormal cerebral vascular morphology, Peri... |
ORPHA:79474 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Ch... |
ORPHA:101330 |
Cardiac Valvular Dysplasia 2 |
|
Ascending tubular aorta aneurysm, Pulmonary artery dilatation |
OMIM:620067 |
Aminopterin/Methotrexate Embryofetopathy |
|
Pulmonary artery atresia, Tetralogy of Fallot |
ORPHA:1908 |
Ritscher-Schinzel Syndrome 2 |
|
Patent ductus arteriosus, Pulmonary artery hypoplasia, Camptodactyly of finger, Camptodactyly |
OMIM:300963 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:2001 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis |
OMIM:194380 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Spleno... |
OMIM:612541 |
Familial Adenomatous Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Congenital Tracheal Stenosis |
|
Ascending aorta hypoplasia, Abnormal lung morphology, Patent ductus arteriosus, Abnormal lung lob... |
ORPHA:141127 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis |
OMIM:602522 |
Diaphanospondylodysostosis |
|
Respiratory distress, Tracheomalacia, Abnormal liver lobulation, Respiratory insufficiency |
OMIM:608022 |
Heterotaxy, Visceral, 5, Autosomal |
|
Bilateral trilobed lung, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Coa... |
OMIM:270100 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly |
ORPHA:3166 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... |
OMIM:619656 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Pulmonary artery atresia, Arthrogryposis multiplex congenita, Double outlet right ventricle |
OMIM:301056 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Pulmonary artery atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of... |
OMIM:618164 |
Mosaic Trisomy 1 |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture, Coarctation ... |
ORPHA:1692 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure |
ORPHA:3240 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating growth ... |
ORPHA:97261 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Congenital diaphragmatic hernia, Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalize... |
OMIM:614437 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology |
ORPHA:1332 |
Riddle Syndrome |
|
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Restrictive ventilatory defect, Respiratory fa... |
ORPHA:420741 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Respiratory failure requiring assisted ve... |
ORPHA:273 |
Livedoid Vasculopathy |
|
Abnormal capillary morphology, Telangiectasia of the skin, Venous insufficiency, Pedal edema, Var... |
ORPHA:542643 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Phace Association |
|
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... |
OMIM:606519 |
Hereditary Spherocytosis |
|
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Cholelithiasis |
ORPHA:822 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Primary hyperparat... |
ORPHA:97289 |
Cerebrotendinous Xanthomatosis |
|
Angina pectoris, Myocardial infarction, Tendon xanthomatosis, Cholelithiasis, Lower limb muscle w... |
OMIM:213700 |
Adams-Oliver Syndrome |
|
Pulmonary artery atresia, Tetralogy of Fallot, Arteriovenous malformation |
ORPHA:974 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transien... |
ORPHA:2929 |
Fanconi Anemia, Complementation Group Q |
|
Biliary atresia, Primum atrial septal defect |
OMIM:615272 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic hernia, Patent ductus arterios... |
ORPHA:2092 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hydrops fetalis |
ORPHA:2879 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morph... |
ORPHA:124 |
Costello Syndrome |
|
Ventricular septal defect, Rhabdomyosarcoma, Tracheomalacia, Achilles tendon contracture, Pneumot... |
OMIM:218040 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Generalized muscle hypertrophy, Respiratory insu... |
OMIM:139210 |
Fanconi Anemia, Complementation Group D2 |
|
Cryptorchidism, Patent ductus arteriosus, Prolonged G2 phase of cell cycle, Abnormal heart morpho... |
OMIM:227646 |
Fryns Syndrome |
|
Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Abnormal aortic morphology, Pul... |
ORPHA:2059 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Patent ductus arteriosus |
OMIM:620113 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Miscarriage, Interphalangeal joint contracture of finger, Ventricular septal defect... |
ORPHA:96334 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Decreased fetal movement, Premature birth, Ventricular septal defect, Polyhydramnio... |
OMIM:618268 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall muscu... |
ORPHA:565 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctation of aorta, Unil... |
OMIM:619480 |
Enlarged Parietal Foramina |
|
Abnormal cerebral vein morphology, Venous malformation |
ORPHA:60015 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Distal lower limb amyotrophy, Dupuytren contracture, Upper limb amyotrophy, Varicose veins, Leg m... |
ORPHA:100991 |
Joubert Syndrome 21 |
|
Apnea, Splenomegaly, Dyspnea, Respiratory failure, Chronic sinusitis |
OMIM:615636 |
Hepatoerythropoietic Porphyria |
|
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:95159 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Dextrocardia, Cryptorchidism, Abnormal heart morphology, Contractures ... |
ORPHA:96092 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... |
OMIM:615067 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Congenital diaphragmatic hernia, Dyspnea, Dilated cardiomyopathy, Mitral va... |
ORPHA:2556 |
Meester-Loeys Syndrome |
|
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... |
OMIM:300989 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Elevated hepatic transaminase, Pneumonia, Epistaxis, Dyspnea, Respiratory f... |
ORPHA:340 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Distal lower limb amyotrophy, Facial hypotonia, Cryptorchidism, Flexion contracture, Lower limb h... |
OMIM:300534 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Lacunar stroke, Varicose veins, Stroke, Vascular granular osmiophilic material deposition |
OMIM:125310 |
Fanconi Anemia, Complementation Group E |
|
Cryptorchidism, Prolonged G2 phase of cell cycle, Abnormal heart morphology |
OMIM:600901 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Stridor, Respirat... |
ORPHA:79404 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Spontaneous pneumothorax, Descending aortic dissection, Emphysema, Dilat... |
ORPHA:558 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality of the parathyroid gland, Pol... |
ORPHA:2969 |
Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Arteriovenous fistula, Distal lower limb muscle weakness, Lower lim... |
ORPHA:79093 |
Pauci-Immune Glomerulonephritis |
|
Small vessel vasculitis, Arteritis, Abnormality of the pulmonary vasculature, Pulmonary hemorrhage |
ORPHA:93126 |
Fanconi Anemia, Complementation Group A |
|
Cryptorchidism, Prolonged G2 phase of cell cycle, Abnormal heart morphology |
OMIM:227650 |
Distal Duplication 5Q |
|
Cryptorchidism, Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Clapo Syndrome |
|
Varicose veins, Venous malformation, Lymphedema |
ORPHA:168984 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Ventricular septal defect, Heart murmur, Cryptorchidism |
ORPHA:166035 |
H Syndrome |
|
Abnormal cardiovascular system physiology, Upper eyelid edema, Hepatosplenomegaly, Varicose veins... |
ORPHA:168569 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Respiratory failure, Recurrent pneumonia, Rhabdomyosarcoma |
ORPHA:647 |
Fanconi Anemia, Complementation Group C |
|
Cryptorchidism, Ventricular septal defect, Flexion contracture, Prolonged G2 phase of cell cycle |
OMIM:227645 |
Trisomy 8P |
|
Multiple joint contractures, Abnormal atrioventricular connection, Cryptorchidism, Fetal pyelecta... |
ORPHA:264450 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Camptodactyly of finger |
ORPHA:2554 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery... |
ORPHA:71273 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory failure, Hepatic cysts, Cardiac rhabdomyoma |
ORPHA:805 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Pulmonary arterial hypertension, Left superior vena cava draining to c... |
ORPHA:464738 |
Bloom Syndrome |
|
Rhinitis, Chronic pulmonary obstruction, Pneumonia, Respiratory failure |
ORPHA:125 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Mitral valve calcification, Splenomegaly, Abnormality of the sp... |
ORPHA:2072 |
Peters Plus Syndrome |
|
Patent ductus arteriosus, Abnormal pulmonary vein morphology, Abnormality of the pulmonary artery |
ORPHA:709 |
Congenital Erythropoietic Porphyria |
|
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:79277 |
Alport Syndrome |
|
Renal glomerular foam cells, Aortic aneurysm, Recurrent bronchitis, Abnormal aortic morphology |
ORPHA:63 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Premature rupture of membranes, Varicose veins, Camptodactyly, Pulmonic stenosis, Aortic dissecti... |
OMIM:618343 |
2Q37 Microdeletion Syndrome |
|
Abnormal aortic morphology, Congenital diaphragmatic hernia |
ORPHA:1001 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Congenital hepatic fibrosis, Hydrops fetalis, Cryptorchidism |
ORPHA:93271 |
Stuve-Wiedemann Syndrome 1 |
|
Elbow flexion contracture, Pulmonary arterial medial hypertrophy, Knee flexion contracture, Pulmo... |
OMIM:601559 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormal venous morphology, Telangiectasia of the skin, Abnormal cerebral vascular morphology, Hy... |
ORPHA:276280 |
X-Linked Intellectual Disability, Nascimento Type |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonary a... |
ORPHA:163956 |
Yunis-Varon Syndrome |
|
Absent nipple, Premature birth, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Hydrop... |
OMIM:216340 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Sarcoidosis |
|
Hepatomegaly, Facial palsy, Portal hypertension, Dyspnea, Pneumothorax, Bronchiectasis, Upper air... |
ORPHA:797 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Cholelithiasis, Hypoparathyroidism, Chronic active hepatitis |
OMIM:240300 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Abnormal heart valve morphology, Hypersplenism, Splenomegaly, Cherry red spot of th... |
ORPHA:77293 |
Mosaic Variegated Aneuploidy Syndrome |
|
Rhabdomyosarcoma, Abnormal lung lobation, Coarctation of aorta, Abnormal aortic morphology, Muscu... |
ORPHA:1052 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Varicose veins, Torticollis, Cryptorchidism |
OMIM:314300 |
Aortic Arch Interruption |
|
Patent ductus arteriosus, Double outlet right ventricle, Abnormal ascending aorta morphology, Aor... |
ORPHA:2299 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a... |
ORPHA:402075 |
Hyperlysinemia |
|
Pulmonary artery hypoplasia, Recurrent pneumonia |
ORPHA:2203 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypoparathyroidism, Ventricular septal defect, Abnormal pulmonary va... |
ORPHA:567 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Pulmonary artery atresia, Patent ductus arteriosus, Camptodactyly |
OMIM:616894 |
Liposarcoma |
|
Varicose veins |
ORPHA:69078 |
Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder |
ORPHA:512 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Rhabdo... |
ORPHA:358 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Aortic dissection, Thoracic aortic aneurysm, Subarachnoid hemorrhage,... |
OMIM:613795 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... |
ORPHA:97297 |
Fraser Syndrome 2 |
|
Respiratory failure |
OMIM:617666 |
Coffin-Siris Syndrome 4 |
|
Pulmonary artery atresia, Macroglossia, Patent ductus arteriosus |
OMIM:614609 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Decreased muscle mass, Aortic dissection, Flexion contracture, Pneum... |
OMIM:154700 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Venous malformation |
OMIM:612918 |
Atrial Septal Defect, Ostium Primum Type |
|
Left ventricular hypertrophy, Recurrent respiratory infections, Pulmonary artery dilatation |
ORPHA:99106 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Pulmonary artery sling, Flexion contracture, Tetralogy of Fallot, Coarctation of aorta, Camptodac... |
ORPHA:261537 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
1-minute APGAR score of 1, Cyst of the ductus choledochus, Patent ductus arteriosus, 5-minute APG... |
ORPHA:480880 |
Otopalatodigital Syndrome, Type Ii |
|
Elbow contracture, Respiratory insufficiency, Respiratory failure, Stillbirth, Atrial septal defect |
OMIM:304120 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Pericardial effusion, Cryptorchidism, Prominent veins on trunk, Mitral v... |
ORPHA:536532 |
Neurofibroma |
|
Enlargement of parotid gland, Intestinal bleeding, Abnormal biliary tract morphology |
ORPHA:252183 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Pulmonary artery stenosis, Hypoplastic aortic arch, Patent duct... |
ORPHA:99125 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Abnormal heart morphology, Respiratory failure, Atrial septal defect, Emphysema |
ORPHA:500150 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Emphysema, Recurrent bronchitis |
OMIM:245150 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Pulmonary artery sling, Patent ductus arteriosus, Flexion contracture, Tetralogy of Fallot, Coarc... |
ORPHA:261552 |
Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholelithiasis, Joint contracture of the hand |
OMIM:263700 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:273395 |
Occipital Horn Syndrome |
|
Venous insufficiency, Jaundice, Hepatitis, Cholestasis, Vascular dilatation |
ORPHA:198 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Myocardial infarction, Periorbital ... |
ORPHA:904 |
Holoprosencephaly |
|
Aplasia/Hypoplasia of the lungs, Abnormal aortic morphology, Tetralogy of Fallot, Congenital diap... |
ORPHA:2162 |
Cerebrotendinous Xanthomatosis |
|
Precocious atherosclerosis, Tendon xanthomatosis, Abnormal atrial septum morphology, Distal amyot... |
ORPHA:909 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly |
OMIM:301066 |
Autosomal Recessive Robinow Syndrome |
|
Recurrent respiratory infections, Abnormal aortic morphology, Tetralogy of Fallot, Camptodactyly ... |
ORPHA:1507 |
Unilateral Polymicrogyria |
|
Stroke, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal aortic morphology, Interrupted aortic arch, Coarctation of aorta |
ORPHA:2396 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Respiratory failure |
ORPHA:2636 |
Osteogenesis Imperfecta, Type Vii |
|
Absent pulmonary artery, Hypoplastic pulmonary veins |
OMIM:610682 |
Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation |
ORPHA:83454 |
Mucopolysaccharidosis Type 2 |
|
Recurrent upper respiratory tract infections, Peripheral arterial stenosis, Macroglossia, Contrac... |
ORPHA:580 |
Mucopolysaccharidosis Type 2, Severe Form |
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Camptodactyly of finger, Flexion contracture, Peripheral arterial stenosis, Recurrent upper respi... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Camptodactyly of finger, Flexion contracture, Peripheral arterial stenosis, Recurrent upper respi... |
ORPHA:217093 |
Ehlers-Danlos Syndrome, Vascular Type |
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Recurrent intrapulmonary hemorrhage, Premature delivery because of cervical insufficiency or memb... |
OMIM:130050 |
Digeorge Syndrome |
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Parathyroid agenesis, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Right ao... |
OMIM:188400 |
Thauvin-Robinet-Faivre Syndrome |
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Ventricular septal defect, Pedal edema, Mitral valve prolapse, Macroglossia, Varicose veins |
OMIM:617107 |
Vascular Ehlers-Danlos Syndrome |
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Internal hemorrhage, Peripheral arteriovenous fistula, Premature birth, Cryptorchidism, Varicose ... |
ORPHA:286 |
Igg4-Related Kidney Disease |
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Abnormal lung morphology, Interstitial pneumonitis, Abnormal aortic morphology, Arteritis, Pleuritis |
ORPHA:449395 |
Ulbright-Hodes Syndrome |
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Respiratory distress, Respiratory failure, Pneumothorax |
ORPHA:3404 |
Lipodystrophy, Familial Partial, Type 7 |
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Pleural effusion, Lower limb muscle weakness, Pulmonary arteriovenous malformation, Spontaneous p... |
OMIM:606721 |
Fanconi Anemia |
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Patent ductus arteriosus, Abnormal carotid artery morphology, Abnormal aortic morphology, Arterio... |
ORPHA:84 |
Congenitally Corrected Transposition Of The Great Arteries |
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Pulmonary artery atresia, Patent ductus arteriosus, Bilateral superior vena cava with bridging ve... |
ORPHA:216694 |
Microphthalmia With Limb Anomalies |
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Venous insufficiency, Cryptorchidism, Camptodactyly of 2nd-5th fingers |
ORPHA:1106 |
Charge Syndrome |
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Overriding aorta, Facial palsy, Patent ductus arteriosus, Right aortic arch, Pulmonary artery atr... |
OMIM:214800 |
Hypermobile Ehlers-Danlos Syndrome |
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Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubular aor... |
ORPHA:285 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... |
ORPHA:500095 |
Familial Cerebral Cavernous Malformation |
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Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Pmm2-Cdg |
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Respiratory distress, Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, P... |
ORPHA:79318 |
Norrie Disease |
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Venous insufficiency, Cryptorchidism |
ORPHA:649 |