Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Hepatic fibrosis, Hypoplasia of the brainstem, Molar tooth sign on MRI,... |
OMIM:610688 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Portal inflamm... |
OMIM:600803 |
Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... |
OMIM:617394 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... |
OMIM:613812 |
Biliary Atresia, Extrahepatic |
|
Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Jaundice, Elevated hepatic tra... |
OMIM:210500 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... |
OMIM:602347 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... |
OMIM:619662 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice... |
ORPHA:79302 |
Meckel Syndrome, Type 3 |
|
Hepatic fibrosis, Hydrocephalus, Malformation of the hepatic ductal plate, Bile duct proliferatio... |
OMIM:607361 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... |
OMIM:616217 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Patent ductus arterio... |
OMIM:208540 |
Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Bile duct prolif... |
OMIM:611134 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... |
OMIM:613027 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Patent ductus arteriosus, Biliary cirrhosis, Hepatosplenomegaly, Bile duct prol... |
OMIM:267010 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... |
ORPHA:567983 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Intrahepatic biliary atresia, Hepatic fibrosis, Hepatic failure, Sclerosing cholangitis, Jaundice... |
OMIM:607626 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Jaundice, Elevated hepatic transaminase, Ach... |
ORPHA:30391 |
Coach Syndrome 2 |
|
Hepatic fibrosis, Molar tooth sign on MRI, Hydrocephalus, Elevated hepatic transaminase, Hyperten... |
OMIM:619111 |
Caroli Syndrome |
|
Cholangiocarcinoma, Elevated hepatic transaminase, Hepatomegaly, Hematemesis, Abnormality of the ... |
ORPHA:480520 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Cerebellar hypoplasia, Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, H... |
OMIM:618329 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... |
ORPHA:79301 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Dandy-Walker malformation, Abnormal biliary tract morphology, Abnorm... |
ORPHA:3032 |
Mirizzi Syndrome |
|
Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Elevated circulating alkaline ph... |
ORPHA:521219 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Hepatic fibrosis, Anencephaly, Hydrocephalus, Bile duct proliferation, Hepati... |
OMIM:612284 |
Meckel Syndrome, Type 2 |
|
Meningocele, Encephalocele, Anencephaly, Bile duct proliferation, Dandy-Walker malformation |
OMIM:603194 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cirrhosis, Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Elevated hepat... |
ORPHA:562639 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Hepatomegaly, Decreased l... |
OMIM:301068 |
D-Bifunctional Protein Deficiency |
|
Ventriculomegaly, Elevated hepatic transaminase, Hepatic steatosis, Bile duct proliferation, Chol... |
OMIM:261515 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly, Bile duct proliferation |
OMIM:611561 |
Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia, Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Spinal dysraphism, Encephalocele, Ventricular septal defect, Short stature, Anenceph... |
ORPHA:1908 |
Low Phospholipid-Associated Cholelithiasis |
|
Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c... |
ORPHA:69663 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, A... |
OMIM:224100 |
Beta-Thalassemia Intermedia |
|
Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyroidism, Hepatomegaly, Decreased liver f... |
ORPHA:231222 |
Beta-Thalassemia |
|
Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Hypogonadotropic hy... |
ORPHA:848 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cirrhosis, Jaundice, Hepatocellular carcinoma, Elevated hepatic transaminase, Ach... |
ORPHA:65682 |
Autosomal Recessive Polycystic Kidney Disease |
|
Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Periportal fibrosis, Hypersplenism, Jaun... |
ORPHA:731 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida |
ORPHA:63260 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... |
ORPHA:846 |
Meckel Syndrome, Type 1 |
|
Patent ductus arteriosus, Asplenia, Dilated fourth ventricle, Molar tooth sign on MRI, Ventriculo... |
OMIM:249000 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transaminase, Micro... |
OMIM:203700 |
Disorder Of Bile Acid Synthesis |
|
Elevated hepatic transaminase, Abnormality of the liver, Cholestasis, Biliary tract abnormality |
ORPHA:79168 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Biliary cirrhosis, Lateral ventricle dilatation, Cardiac arrest, Hepatomegaly, Splenomegaly, Tric... |
OMIM:619534 |
Autosomal Erythropoietic Protoporphyria |
|
Decreased liver function, Cirrhosis, Cholelithiasis, Microcytic anemia |
ORPHA:79278 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic cysts, Hepatic fibrosis, Pulmonary insufficiency, Jaundice, Polycystic liver disease, ... |
OMIM:208500 |
Joubert Syndrome 9 |
|
Hepatic fibrosis, Encephalocele, Molar tooth sign on MRI, Ventriculomegaly |
OMIM:612285 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Molar tooth sign on MRI, Cerebellar hypoplasia, Anencephaly, Malformati... |
OMIM:614175 |
Cranioectodermal Dysplasia 2 |
|
Patent ductus arteriosus, Biliary cirrhosis, Polysplenia, Elevated hepatic transaminase, Hyperten... |
OMIM:613610 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Splenomegaly, Spontaneous hemolytic crises, Decreased glucosephosphate isomerase level, Jaundice,... |
OMIM:613470 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Extramedullary hematopoiesis, Elevated hepatic transaminase, Abnormal ... |
ORPHA:79303 |
Caroli Disease |
|
Hepatic fibrosis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration,... |
ORPHA:53035 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating alanine aminotransferase concentration, Anemia, Increased hepatic echogenici... |
OMIM:619525 |
Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Perisylvian polymicrogyria, Anterior hypopituitarism, Central diabetes i... |
ORPHA:280195 |
Hyperbiliverdinemia |
|
Decreased liver function, Cholestasis, Cholelithiasis |
OMIM:614156 |
Coach Syndrome 1 |
|
Hepatic fibrosis, Cirrhosis, Encephalocele, Molar tooth sign on MRI, Intrahepatic bile duct dilat... |
OMIM:216360 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Epistaxis, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episo... |
OMIM:211600 |
Sickle Cell Anemia |
|
Hemolytic anemia, Pigment gallstones, Reticulocytosis, Persistence of hemoglobin F, Iron deficien... |
ORPHA:232 |
Liver Disease, Severe Congenital |
|
Systolic heart murmur, Peritonitis, Elevated hepatic transaminase, Portal inflammation, Hepatic s... |
OMIM:619991 |
Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Cholelithiasis, Nonspherocytic hemolytic anemia, Congenital hemolytic anem... |
ORPHA:3202 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic ... |
OMIM:266200 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cirrhosis, Anemia, Elevated hepatic transaminase, Pancytopenia, Hepatic steatosis, Bile duct prol... |
OMIM:613658 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Hepa... |
OMIM:605479 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Testicular atrophy, Atrial flutter, First degree atrioventricular block, Cholelithi... |
OMIM:160900 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol... |
OMIM:235700 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hepatic failure, Cholelithiasis |
OMIM:177000 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hypogonadism, Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activit... |
ORPHA:79095 |
Glycogen Storage Disease Vii |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Jaundice, Reticulocyt... |
OMIM:232800 |
Posterior Meningocele |
|
Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele |
ORPHA:268810 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Hypogonadism, Cerebellar hypoplasia, Polymicrogyria, Pontocereb... |
OMIM:619273 |
Sickle Cell Disease |
|
Hemolytic anemia, Target cells, Priapism, Splenic infarction, Jaundice, Hypertension, Increased r... |
OMIM:603903 |
Alg3-Cdg |
|
Cardiomyopathy, Neural tube defect |
ORPHA:79321 |
Hereditary Hemorrhagic Telangiectasia |
|
Pulmonary arterial hypertension, Pulmonary embolism, Hepatic failure, Cirrhosis, Mucosal telangie... |
ORPHA:774 |
Cystic Echinococcosis |
|
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Jaundice, Spleni... |
ORPHA:400 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... |
OMIM:194380 |
Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Restrictive cardiomyopathy, Spontane... |
ORPHA:822 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intermittent jaundice, Facial telangiectasia, Elevated alkaline phosphatase of hepatic origin, He... |
ORPHA:100085 |
Aprosencephaly Syndrome |
|
Anencephaly, Aprosencephaly |
OMIM:207770 |
Primary Sclerosing Cholangitis |
|
Spider hemangioma, Elevated alkaline phosphatase of hepatic origin, Cholangiocarcinoma, Elevated ... |
ORPHA:171 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Hepatic failure, Hydrocephalus, Elevated hepatic transaminase, Cholelit... |
OMIM:614886 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis |
OMIM:182900 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis |
ORPHA:438274 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Megaloblastic anemia, Cholelithiasis |
ORPHA:309108 |
Glycogen Storage Disease Xii |
|
Nonspherocytic hemolytic anemia, Elevated circulating alanine aminotransferase concentration, Ane... |
OMIM:611881 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Biliary hyperplasia, B lymphocytopenia, Severe B lymphocytopenia, Hepatome... |
ORPHA:83617 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Autoimmune hemolytic anemia, Abnormality... |
ORPHA:436252 |
Arima Syndrome |
|
Dilated fourth ventricle, Hepatic fibrosis, Cirrhosis, Hypoplasia of the brainstem, Molar tooth s... |
OMIM:243910 |
Slc35A2-Cdg |
|
Elevated circulating thyroid-stimulating hormone concentration, Lateral ventricle dilatation, Ele... |
ORPHA:356961 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaundice, Reticulo... |
ORPHA:288 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Triosephosphate Isomerase Deficiency |
|
Hemolytic anemia, Normocytic anemia, Jaundice, Congestive heart failure, Cholecystitis, Chronic h... |
OMIM:615512 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Hypertrophic cardiomyopathy, Thrombocytopenia, Bradycardia, Choleli... |
OMIM:618775 |
Sialuria |
|
Elevated hepatic transaminase, Cholelithiasis, Hepatomegaly, Hepatosplenomegaly |
ORPHA:3166 |
Adult Krabbe Disease |
|
Abnormal circulating enzyme concentration or activity, Erectile dysfunction, Abnormal midbrain mo... |
ORPHA:206448 |
Primary Biliary Cholangitis |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hepatic failure, Hepatitis, Jaundice, Hepatocellu... |
ORPHA:186 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Cholelithiasis, Arrhythmia |
ORPHA:171876 |
Gallbladder Neuroendocrine Tumor |
|
Intermittent jaundice, Extrahepatic cholestasis, Elevated alkaline phosphatase of hepatic origin,... |
ORPHA:100086 |
Sacral Defect With Anterior Meningocele |
|
Meningocele, Myelomeningocele, Hydrocephalus, Myeloschisis, Dermal sinus tract |
OMIM:600145 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Macro... |
ORPHA:209902 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Patent ductus arteriosus, Dilated fourth ventricle, Aplasia/Hypoplasia of the cerebellum, Hypopla... |
ORPHA:480880 |
Cerebrotendinous Xanthomatosis |
|
Abnormal dentate nucleus morphology, Angina pectoris, Myocardial infarction, Cerebellar atrophy, ... |
OMIM:213700 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Female hypogonadism, Asplenia, Chronic active hepatitis, Premature ovarian insufficiency, Male hy... |
OMIM:240300 |
Ppoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... |
ORPHA:97278 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Cholestasis, Annular ... |
OMIM:615710 |
Trichohepatoneurodevelopmental Syndrome |
|
Patent ductus arteriosus, Recurrent pancreatitis, Decreased liver function, Cerebellar hypoplasia... |
OMIM:618268 |
Grfoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... |
ORPHA:97261 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Annular pancreas, Hypoplasia of the gallbladder, Extrahepatic biliary duct... |
OMIM:601346 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave, Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Inferior c... |
ORPHA:444072 |
8P Inverted Duplication/Deletion Syndrome |
|
Cerebellar hypoplasia, Cryptorchidism, Dandy-Walker malformation, Aplasia/Hypoplasia of the gallb... |
ORPHA:96092 |
Amoebiasis Due To Free-Living Amoebae |
|
Increased red blood cell count, Abnormal cerebellum morphology, Abnormal brainstem MRI signal int... |
ORPHA:68 |
Metachromatic Leukodystrophy |
|
Neoplasm of the gallbladder, Abnormal gallbladder morphology, Abnormal circulating enzyme concent... |
ORPHA:512 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pulmonary arterial hypertension, Hepatic fibrosis, Anemia, Ventriculomegaly, Spontaneous, recurre... |
ORPHA:2072 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Decreased testicular size, Cholelithiasis, Cryptorchidism |
OMIM:300534 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cirrhosis, Hepatic failure, Abnormal cerebellum morphology, Hypersplenism, Neoplasm of the liver,... |
ORPHA:77293 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Cyst of the ductus choledochus, Spina bifida |
OMIM:619480 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Dilated third ventricle, Cholelithiasis, Lateral ventricle dilat... |
ORPHA:464738 |
Steinert Myotonic Dystrophy |
|
Decreased fertility, Supraventricular tachycardia, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly |
OMIM:263700 |
Distal Trisomy 5Q |
|
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Bohring-Opitz Syndrome |
|
Ventriculomegaly, Annular pancreas, Bradycardia, Cholelithiasis, Dandy-Walker malformation |
ORPHA:97297 |
Cerebrotendinous Xanthomatosis |
|
Abnormal dentate nucleus morphology, Abnormal cerebellum morphology, Abnormal circulating enzyme ... |
ORPHA:909 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatosplenomegaly, Cholecystitis, Hepatomegaly, Cholelithiasis, Umbilical hernia |
OMIM:301066 |
Trisomy 8P |
|
Heart murmur, Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Hydrocephalus, Cryptorchid... |
ORPHA:264450 |
Semilobar Holoprosencephaly |
|
Short stature, Neural tube defect, Hydrocephalus, Growth delay, Abnormal heart morphology |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Short stature, Neural tube defect, Hydrocephalus, Growth delay, Abnormal heart morphology |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Neural tube defect, Hydrocephalus, Growth delay, Abnormal heart morphology |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Short stature, Neural tube defect, Hydrocephalus, Growth delay, Abnormal heart morphology |
ORPHA:93924 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Patent ductus arteriosus, Biliary atresia, Aplasia/Hypoplasia of the gallb... |
ORPHA:2255 |
Japanese Encephalitis |
|
Abnormal pons morphology, Abnormal midbrain morphology, Abnormal substantia nigra morphology, Neu... |
ORPHA:79139 |
22Q11.2 Deletion Syndrome |
|
Patent ductus arteriosus, Meningocele, Hypoplasia of the thymus, Spina bifida, Arrhinencephaly, H... |
ORPHA:567 |
Neurofibroma |
|
Abnormal biliary tract morphology, Intestinal bleeding, Enlargement of parotid gland |
ORPHA:252183 |
Schinzel-Giedion Syndrome |
|
Abnormal heart morphology, Umbilical hernia, Neural tube defect |
ORPHA:798 |
Duplication Of The Pituitary Gland |
|
Abnormality of the pituitary gland, Abnormal midbrain morphology, Encephalocele |
ORPHA:314621 |
Williams Syndrome |
|
Sudden cardiac death, Patent ductus arteriosus, Chiari malformation, Cerebral ischemia, Functiona... |
ORPHA:904 |
Digeorge Syndrome |
|
Patent ductus arteriosus, Anemia, Hypoplasia of the thymus, Hydrocele testis, Hepatic steatosis, ... |
OMIM:188400 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Increased circulating prolactin concentration, Gonadotropin deficiency, Decreased response to gro... |
ORPHA:293987 |