Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Small for gestational age, Proportionate short s... |
ORPHA:439167 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Short stature, Postnatal growth retardation, Truncal obesity, Severe p... |
ORPHA:73272 |
Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... |
OMIM:619462 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:294 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:619874 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fatty replacement of skeletal muscle, Obesity, Proximal muscle weakness in lower limbs, Fasting h... |
ORPHA:171706 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Small for gestational age, Postnatal growth retardation, Small placenta, Intrauterine growth reta... |
ORPHA:397590 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Polyhydramnios, Large for gestational age, Postnatal growth retardatio... |
ORPHA:254534 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Death in infancy |
ORPHA:139406 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Recurrent respiratory infections, Large for gestational age, Hepatomegaly |
ORPHA:2432 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity |
OMIM:614662 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Polyhydramnios, Large placenta, Abnormality of the pancreas, Abnormalities of place... |
OMIM:222470 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity |
OMIM:608320 |
Greenberg Dysplasia |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, I... |
OMIM:215140 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia, Overgrowth, Obesity |
OMIM:620195 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:605911 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Incre... |
ORPHA:293964 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... |
ORPHA:324575 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Pancreatic Agenesis 2 |
|
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Pancreatic hypoplasia, Exocrine... |
OMIM:615935 |
Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Abnormality of the liver, Hepatomegaly |
ORPHA:1980 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Umbilical hernia, Large placenta, Polyhydramnios, Intrauterine growth retardation |
ORPHA:254528 |
Mosaic Trisomy 16 |
|
Premature birth, Maternal diabetes, Large placenta, Abnormal lung morphology, Single umbilical ar... |
ORPHA:1708 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent respiratory infections, Recurrent lower respiratory tract infections, Recurrent upper r... |
OMIM:300209 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... |
ORPHA:276580 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Cholesta... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Cholesta... |
ORPHA:71526 |
Mulibrey Nanism |
|
Intrauterine growth retardation, Hepatomegaly |
ORPHA:2576 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T... |
ORPHA:3347 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure |
ORPHA:60 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Death in infancy, Jaundice, Elevated circulating aspartate aminotransferase concentration, Hepato... |
OMIM:614876 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... |
OMIM:619178 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:46532 |
Pancreatic Agenesis 1 |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc... |
OMIM:260370 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypogly... |
ORPHA:276575 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Obesity |
OMIM:615703 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Death in infancy, Nonimmune hydrops fetalis, Splenomegaly, Abnormality of the amnio... |
OMIM:608540 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, Malformation of the hepatic ductal plate, Asplenia, Br... |
OMIM:249000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... |
OMIM:615158 |
Kagami-Ogata Syndrome |
|
Hepatoblastoma, Large placenta, Premature birth, Polyhydramnios |
ORPHA:254519 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis, Abnormality of the liver |
ORPHA:2040 |
Meconium Aspiration Syndrome |
|
Fetal distress, Maternal diabetes, Atelectasis, Pneumothorax, Postterm pregnancy, Premature ruptu... |
ORPHA:70588 |
Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly |
OMIM:613978 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Jaundice, Increased body weight |
ORPHA:890 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Neonatal hypoglycemia, Cardiomegaly, Cryptorchidism, Pancreatic hy... |
OMIM:130650 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly |
OMIM:606445 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:620010 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Diabetes mellitus, Lower limb muscle weakness, Insulin resistance, Myopa... |
OMIM:615980 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... |
ORPHA:276556 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia |
OMIM:232700 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Premature birth, Hypoglycemia, Polyhydramnios, Cardiomegaly, Large placenta, Spleno... |
ORPHA:116 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
Immunodeficiency 48 |
|
Splenomegaly, Recurrent respiratory infections, Pneumonia, Hepatomegaly |
OMIM:269840 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of ... |
ORPHA:2470 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Premature birth, Miscarriage, Polyhydramnios, Large placenta, Pulmonary artery sten... |
ORPHA:96334 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Tracheal atresia |
OMIM:601612 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Tracheal atresia, Polyhydramnios |
ORPHA:3346 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Death in infancy, Hepatomegaly, Hydrops fetalis, Ascites, Portal vein hypoplasia |
OMIM:619433 |
Restrictive Dermopathy 1 |
|
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,... |
OMIM:275210 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... |
OMIM:208150 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Leptin Deficiency Or Dysfunction |
|
Decreased testicular size, Recurrent upper respiratory tract infections, Obesity, Recurrent pneum... |
OMIM:614962 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity |
OMIM:184700 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Recurrent respiratory infections, Multiple joint contractures, Centrally nucleated skeletal muscl... |
ORPHA:486815 |
Restrictive Dermopathy |
|
Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o... |
ORPHA:1662 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Recurrent upper respira... |
OMIM:614963 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Bronchopulmonary Dysplasia |
|
Premature birth, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphysema, Right... |
ORPHA:70589 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Pan... |
ORPHA:263455 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... |
OMIM:214900 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Diabetes mellitus, Small for gestational age, Increased body weight, Type II diabetes mellitus, G... |
OMIM:274300 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:237800 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... |
ORPHA:97279 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... |
ORPHA:79084 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... |
ORPHA:79644 |
Low Phospholipid-Associated Cholelithiasis |
|
Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahepatic cholestasis, Obesity, Bil... |
ORPHA:69663 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lobation, Cholest... |
OMIM:615415 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis |
OMIM:613313 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Diabetes mellitus, Foot joint contracture, Facial palsy, Achilles tendon contractur... |
ORPHA:456312 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension |
OMIM:210050 |
Fetal Gaucher Disease |
|
Decreased fetal movement, Death in infancy, Hepatomegaly, Fetal akinesia sequence, Abnormality of... |
ORPHA:85212 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphol... |
OMIM:612387 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Decreased liver function, Cholestasis |
ORPHA:570422 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Obesity |
OMIM:615981 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... |
OMIM:618549 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... |
ORPHA:2298 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Premature birth, Pulmonary edema |
OMIM:267450 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Distal lower limb muscle weakness, Obesity, Muscular dystrophy |
ORPHA:459033 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice |
OMIM:613977 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Macronodular adrenal hyperplasia, Increased body weight, Hyperglycemia |
OMIM:615954 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Large for gestational age |
OMIM:617119 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Premature birth, Polyhydramnios, Hydrops fetalis, Ascites |
ORPHA:2123 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity |
OMIM:617885 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure |
ORPHA:75234 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Increased body weight, Increased proinsulin:insulin ratio |
ORPHA:94086 |
Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Overweight, Cryptorchidism, Flex... |
OMIM:616222 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... |
OMIM:606069 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight, Reduced circulating prolactin concentration |
OMIM:300888 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Trache... |
ORPHA:3348 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Diabetes mellitus, Obesity |
OMIM:610628 |
Congenital Myopathy 9A |
|
Cryptorchidism, EMG: myopathic abnormalities, Obesity |
OMIM:618822 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Oligohydramnios |
ORPHA:163596 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Increased body weight, Hepatitis, Weight loss, Proximal mus... |
ORPHA:905 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Ketotic hypoglycemia, Splenomegaly, Limb-girdle muscle wea... |
ORPHA:79240 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Pulmonary cyst, Overgrowth, Enlarged kidney, Large for gestational age |
OMIM:618272 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Intrahepatic cholestasis, Intermittent jaun... |
OMIM:601847 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Increased body mass index, Increased body weight |
OMIM:614450 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hepatic st... |
OMIM:612526 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... |
OMIM:615630 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Intrauterine growth retardation, Ca... |
OMIM:609981 |
Neu-Laxova Syndrome 1 |
|
Decreased fetal movement, Spina bifida, Polyhydramnios, Fetal akinesia sequence, Short umbilical ... |
OMIM:256520 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Hepatomegaly |
OMIM:603902 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Cryptorchidism, Recurrent upper respiratory tract infections, Increased body weight |
ORPHA:589905 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Acholic sto... |
ORPHA:1414 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly |
OMIM:616622 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Myotubular Myopathy With Abnormal Genital Development |
|
Decreased fetal movement, Death in infancy, Polyhydramnios, Atelectasis, Neonatal death |
OMIM:300219 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98855 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... |
OMIM:615418 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Type II diabetes mellitus, Obesity, Decreased testicular size |
ORPHA:2234 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fi... |
ORPHA:93941 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Cirrhosi... |
OMIM:616860 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Cholecystitis, Intrauterine grow... |
OMIM:266200 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Death in infancy, Hepatomegaly, Elevated circulating aspartate aminotransf... |
OMIM:278000 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,... |
OMIM:613027 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased fetal movement, Recurrent respiratory infections, Hepatomegaly, Lymphocytic interstitia... |
OMIM:618495 |
Infant Acute Respiratory Distress Syndrome |
|
Premature birth, Pneumonia, Respiratory tract infection, Atelectasis, Pulmonary edema |
ORPHA:70587 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Large for gestational age, Centrally nucleated skeletal ... |
ORPHA:169189 |
Hurler-Scheie Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Tracheal stenosis, Umbilical hernia |
OMIM:607015 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Gluco... |
OMIM:235200 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi... |
ORPHA:2357 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Hand muscle weakness, Fatty replacement of... |
ORPHA:98908 |
Vacterl/Vater Association |
|
Occipital encephalocele, Premature birth, Polyhydramnios, Abnormality of the pancreas, Abnormalit... |
ORPHA:887 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pleural effusion, Ascites |
ORPHA:2414 |
Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Obesity, Reactive hypoglycemia |
OMIM:600955 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Recurrent upper respiratory tract infections, Pituitary hypo... |
ORPHA:66628 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Increased sarcoplasmic glycogen, Splenomegal... |
ORPHA:264580 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... |
OMIM:609734 |
Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct prolif... |
OMIM:607361 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98863 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:261 |
C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:620321 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... |
ORPHA:79126 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestational age, Glycosuria |
OMIM:616026 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Recurrent upper respiratory tract infections, Pituitary hypo... |
ORPHA:179494 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He... |
OMIM:235555 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Premature birth, Polyhydramnios, Splenomegaly, Intrauterine growth retardation |
OMIM:618541 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
Senior-Loken Syndrome 9 |
|
Hepatic fibrosis, Obesity, Cholestasis, Chronic bronchitis |
OMIM:616629 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Nonimmune hydrops fetalis, Portal hypertension, Poly... |
ORPHA:367 |
Pancreatic And Cerebellar Agenesis |
|
Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperglycemia, Pancreati... |
OMIM:609069 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Premature birth, Portal hypertension, Biliary hyperp... |
ORPHA:567983 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis |
ORPHA:254361 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Obesity |
OMIM:605231 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase... |
OMIM:261680 |
Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity, Pseudohypoparathyroidism |
OMIM:603233 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Increased body weight |
OMIM:615830 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... |
OMIM:615710 |
Geleophysic Dysplasia 3 |
|
Hepatomegaly, Premature birth, Pneumonia, Polyhydramnios, Tracheal stenosis |
OMIM:617809 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly, Interstitial pneumonitis, Recurrent upper respiratory tract infections |
OMIM:620296 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Farber Disease |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Nodular pattern o... |
ORPHA:333 |
Yellow Fever |
|
Pancreatic hyperplasia, Acute pancreatitis, Jaundice |
ORPHA:99829 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Polyhydramnios, Atelectasis, Splenomegaly, Anencephaly, Periportal fibrosis, Pulmon... |
OMIM:269860 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Abnormal lung lobation, Stil... |
OMIM:617667 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Impaired glucose tolerance, Pituitary adenoma, Obesity, Glucose intolera... |
OMIM:219090 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis, Cholestasi... |
OMIM:620233 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Tracheal stenosis, Intrauterine growth retardation, Increased nuchal translucency, Fetal distress |
OMIM:620183 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Jaundice, Prolonged ... |
OMIM:607625 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Tendon xanthomatosis, Obesity, Hepatic steat... |
ORPHA:412 |
Jung Syndrome |
|
Tracheal stenosis, Recurrent respiratory infections |
ORPHA:2321 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic... |
OMIM:251880 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiolitis, Emphysema, Bronchiectasis, Recurrent bronchitis |
OMIM:604571 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hyperglycemia |
OMIM:615812 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino... |
ORPHA:2088 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... |
OMIM:610978 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Death in infancy, Atelectasis, Breech presentation, Recurrent pneumonia, Pulmon... |
OMIM:613177 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Small for gestational age, Pneumonia, Overweight, ... |
ORPHA:26793 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Hepatomegaly, Cardiomegaly, Atelectasis, Microvesicular hepatic... |
OMIM:618278 |
Klatskin Tumor |
|
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis |
ORPHA:99978 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Obesity |
OMIM:618620 |
Hypomandibular Faciocranial Dysostosis |
|
Tracheal stenosis, Recurrent respiratory infections, Polyhydramnios, Death in infancy |
ORPHA:1790 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co... |
ORPHA:99885 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Micronodular cirrhosis, Obesity, Myopathy, Shoulder girdle muscle weakness, Increas... |
ORPHA:98907 |
Aromatase Deficiency |
|
Eunuchoid habitus, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Cryptorchidism, Ins... |
ORPHA:91 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Primary hyperparathyroidism, Increased body weight, Proximal amyotrophy, Gluco... |
ORPHA:189427 |
Adrenocortical Carcinoma |
|
Diabetes mellitus, Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss, Lu... |
ORPHA:1501 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Pleural effusion, Hypersensitivity pneumonitis |
ORPHA:2902 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, E... |
OMIM:242700 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Joubert Syndrome 8 |
|
Hepatomegaly, Obesity, Prolonged neonatal jaundice |
OMIM:612291 |
Keutel Syndrome |
|
Recurrent respiratory infections, Pulmonary artery stenosis, Tracheal atresia, Recurrent sinusitis |
ORPHA:85202 |
Perlman Syndrome |
|
Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Cryptorchidism, Hypopla... |
OMIM:267000 |
Sotos Syndrome |
|
Neonatal hypoglycemia, Cryptorchidism, Increased body weight, Glucose intolerance, Overgrowth, Pr... |
OMIM:117550 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia of the lungs, Tracheal stenosis, Abnormal lung lobation, Polyhydramnios |
ORPHA:3301 |
Smith-Magenis Syndrome |
|
Increased body weight |
OMIM:182290 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Emphysema, Pulmonary fibrosis, Portal hypertension |
OMIM:620365 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Obesity, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
Waardenburg Syndrome Type 3 |
|
Atelectasis |
ORPHA:896 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Atelectasis, Splenomegaly, Recurrent pneumonia, Pleural effusion, As... |
OMIM:306400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Panc... |
ORPHA:556955 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis |
OMIM:194380 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Cryptorchidism, Flexion contracture, Increased body weight, Abd... |
ORPHA:398069 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, ... |
OMIM:610199 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic... |
ORPHA:2255 |
Dextrocardia |
|
Abnormality of the spleen, Abnormal lung lobation, Abnormality of abdominal situs, Abnormal pulmo... |
ORPHA:1666 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomegaly, Portal hypert... |
ORPHA:171 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Flexion contracture of finger, Decreased response to growth hormone stimulation tes... |
OMIM:602782 |
Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Elevated bronchoalveolar lavage flui... |
OMIM:608710 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas... |
ORPHA:93111 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Tracheal stenosis |
OMIM:601427 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Hepatomegaly, Jaundice, Prolonged neonatal jaundice |
OMIM:185000 |
Hydrolethalus |
|
Anencephaly, Premature birth, Tracheal atresia, Polyhydramnios |
ORPHA:2189 |
Pendred Syndrome |
|
Tracheal stenosis |
ORPHA:705 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Pneumonia, Splenomegaly, Bronchi... |
ORPHA:1572 |
17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Diabetes mellitus, Pancreatic aplasia |
ORPHA:261265 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Premature birth, Cardiomegaly, Anomalous pulmonary venous return, Intrauterine grow... |
ORPHA:555874 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Failure to thrive, Diabetes mellitus, Congenital diaphragmatic hernia, Pulmon... |
OMIM:600001 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Tracheal stenosis, Hepatosplenomegaly |
ORPHA:93352 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Recurrent respiratory infections |
ORPHA:2314 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Tracheal stenosis, Intrauterine growth retardation, Recurrent respiratory infections |
ORPHA:2637 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Type I diabetes... |
OMIM:618500 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Pulmonary artery stenosis, Recurrent respiratory infections, Increased nuchal translucency, Trach... |
ORPHA:79345 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Pneumothorax, Chylothorax, Emphysema, Ascites, Pul... |
ORPHA:538 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Biliary trac... |
OMIM:137920 |
Igg4-Related Thyroid Disease |
|
Retroperitoneal fibrosis, Sclerosing cholangitis, Pancreatic fibrosis, Tracheal stenosis |
ORPHA:64744 |
Zygomycosis |
|
Diabetes mellitus, Premature birth, Atelectasis, Peritonitis, Pneumothorax, Hepatitis, Acute infe... |
ORPHA:73263 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Atelectasis, Fulminant hepatitis |
ORPHA:319213 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Respiratory tract infection, Atelectasis, Elevated circulating alanin... |
ORPHA:365 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Tracheal stenosis, Polyhydramnios |
OMIM:302960 |
Cartilage-Hair Hypoplasia |
|
Tracheal stenosis, Hepatomegaly, Abnormality of the pancreas, Spinal dysraphism |
ORPHA:175 |
Whim Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces, Oligohydramnios |
ORPHA:536467 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Polyhydramnios, Abnormal lung lobation, Anencephaly, Stillbirth, Tracheal steno... |
OMIM:236680 |
Cushing Disease |
|
Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolerance, Pituitary corticotropic cell ... |
ORPHA:96253 |
Craniofacioskeletal Syndrome |
|
Tracheal stenosis, Intrauterine growth retardation, Absent gallbladder |
OMIM:300712 |
Geleophysic Dysplasia 1 |
|
Tracheal stenosis, Hepatomegaly |
OMIM:231050 |
Shwachman-Diamond Syndrome |
|
Hepatomegaly, Failure to thrive, Diabetes mellitus, Pneumonia, Decreased response to growth hormo... |
ORPHA:811 |
Smith-Lemli-Opitz Syndrome |
|
Polyhydramnios, Increased nuchal translucency, Abnormality of the gallbladder, Abnormal lung loba... |
ORPHA:818 |
22Q11.2 Deletion Syndrome |
|
Spina bifida, Polyhydramnios, Atelectasis, Splenomegaly, Meningocele, Abnormal lung lobation, Occ... |
ORPHA:567 |
Hellp Syndrome |
|
Pleural effusion, Increased body weight, Pulmonary edema |
ORPHA:244242 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Tracheal stenosis |
OMIM:217980 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Atelectasis, Recurrent lower respiratory tract infections |
ORPHA:258 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... |
OMIM:615067 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Failure to thrive, Biliary hyperplasia, Cryptorchidism, Contracture of the distal i... |
ORPHA:83617 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolerance, Pa... |
ORPHA:99889 |
Oculocerebrorenal Syndrome Of Lowe |
|
Umbilical hernia, Atelectasis, Recurrent respiratory infections, Death in infancy |
ORPHA:534 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Pneumonia, Cardiomegaly, Biliary hyperplasia, Splenomegaly, Jaundice, Intrahepatic ... |
OMIM:619991 |
Larsen Syndrome |
|
Tracheal stenosis, Intrauterine growth retardation, Spina bifida occulta |
OMIM:150250 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Tracheal stenosis, Absent gallbladder |
ORPHA:163979 |
Carney Complex |
|
Neoplasm of the pancreas, Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Sertoli ce... |
ORPHA:1359 |
Fraser Syndrome |
|
Encephalocele, Death in infancy, Myelomeningocele, Abnormal lung lobation, Pulmonary hypoplasia, ... |
ORPHA:2052 |
Relapsing Polychondritis |
|
Atelectasis, Hepatitis |
ORPHA:728 |
Digeorge Syndrome |
|
Cholelithiasis, Atelectasis, Splenomegaly, Recurrent pneumonia, Recurrent sinusitis, Umbilical he... |
OMIM:188400 |
Frontometaphyseal Dysplasia 2 |
|
Tracheal stenosis |
OMIM:617137 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased muscle mass, Small for gestational age, Decreased response to growth hormone stimulatio... |
ORPHA:96182 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Abnormality of the pulmonary artery, Pulmonary artery sling, Tracheal stenosis |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Abnormality of the pulmonary artery, Pulmonary artery sling, Tracheal stenosis |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Asplenia, Pulmonary artery sling, Tracheal stenosis |
ORPHA:2152 |