Major Affective Disorder 2 |
|
Bipolar affective disorder |
OMIM:309200 |
Lithium Transport |
|
Bipolar affective disorder |
OMIM:152420 |
Mental Retardation, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Major Affective Disorder 1 |
|
Depression |
OMIM:125480 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... |
OMIM:210500 |
Joubert Syndrome 6 |
|
Hepatic fibrosis, Bile duct proliferation, Thickened superior cerebellar peduncle, Cerebellar ver... |
OMIM:610688 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... |
OMIM:602347 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... |
OMIM:619662 |
Meckel Syndrome, Type 4 |
|
Dandy-Walker malformation, Meningocele, Anencephaly, Agenesis of cerebellar vermis, Bile duct pro... |
OMIM:611134 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:79302 |
Meckel Syndrome, Type 3 |
|
Dandy-Walker malformation, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibros... |
OMIM:607361 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Dandy-Walker malformation, Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Polyspleni... |
OMIM:208540 |
Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis |
OMIM:616217 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... |
OMIM:613027 |
Meckel Syndrome, Type 7 |
|
Dandy-Walker malformation, Pancreatic cysts, Bile duct proliferation, Patent ductus arteriosus, H... |
OMIM:267010 |
Coach Syndrome 2 |
|
Hypertension, Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Cerebellar vermis h... |
OMIM:619111 |
Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
Frontal Encephalocele |
|
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification |
ORPHA:1931 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Elevated gamma-glutamyltransferase level, Biliary... |
ORPHA:567983 |
Meckel Syndrome, Type 6 |
|
Anencephaly, Hepatic fibrosis, Bile duct proliferation, Hydrocephalus, Cystic liver disease |
OMIM:612284 |
Joubert Syndrome 13 |
|
Pachygyria, Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Caroli Syndrome |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Melena, Hypersplenism... |
ORPHA:480520 |
Meckel Syndrome, Type 2 |
|
Dandy-Walker malformation, Bile duct proliferation, Meningocele, Anencephaly |
OMIM:603194 |
D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Cerebellar atrophy, Bile duct proliferation, Ventriculomegaly, Splenomegaly, Hepati... |
OMIM:261515 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Cerebellar atrophy, Bile duct proliferation, Elevated gamma-glutamyl... |
OMIM:618329 |
Acalvaria |
|
Holoprosencephaly, Spina bifida, Hydrocephalus |
ORPHA:945 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Cerebellar atrophy, Bile duct proliferation, Micr... |
OMIM:203700 |
Mirizzi Syndrome |
|
Gallbladder perforation, Cholelithiasis, Pancreatitis, Tachycardia, Cholesterol gallstones, Abnor... |
ORPHA:521219 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic liver di... |
ORPHA:79301 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Choles... |
ORPHA:562639 |
Nphp3-Related Meckel-Like Syndrome |
|
Dandy-Walker malformation, Abnormal liver parenchyma morphology, Abnormal biliary tract morpholog... |
ORPHA:3032 |
Aplasia Cutis Congenita |
|
Spinal dysraphism |
ORPHA:1114 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Anencephaly |
OMIM:611561 |
Craniorachischisis |
|
Sirenomelia, Anencephaly, Myelomeningocele, Cervical spina bifida, Spinal dysraphism |
ORPHA:63260 |
Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Perisylvian polymicrogyria, Megalencephaly, Hypoplasia of the pons,... |
ORPHA:280195 |
Hardikar Syndrome |
|
Cholangitis, Intrahepatic bile duct cysts, Patent ductus arteriosus, Splenomegaly, Hepatosplenome... |
OMIM:301068 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis |
OMIM:300752 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hypertension, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstru... |
ORPHA:69663 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, Splenomegaly, Jaundice, Reti... |
OMIM:224100 |
Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Hypertension, Cholangiocarcinoma, Hepatic... |
ORPHA:731 |
Meckel Syndrome, Type 1 |
|
Dandy-Walker malformation, Malformation of the hepatic ductal plate, Anencephaly, Asplenia, Bile ... |
OMIM:249000 |
Benign Recurrent Intrahepatic Cholestasis |
|
Acholic stools, Hepatocellular carcinoma, Cholelithiasis, Pancreatitis, Cholestatic liver disease... |
ORPHA:65682 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Abnormal hem... |
ORPHA:848 |
Alpha-Thalassemia |
|
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Beta-Thalassemia Intermedia |
|
Splenomegaly, Hepatosplenomegaly, Anemia of inadequate production, Jaundice, Leukocytosis, Elevat... |
ORPHA:231222 |
Gallbladder Disease 1 |
|
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Elevated cir... |
OMIM:600803 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Left-to-right shunt, Neonatal death, Patent ductus arteriosus, Splenomegaly, Anterior pituitary h... |
OMIM:619534 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Hepatomegaly, Hypertension, Portal fibrosis, Bile duct proliferation, Patent ductus ... |
OMIM:613610 |
Alg3-Cdg |
|
Neural tube defect, Cerebral white matter atrophy, Abnormal cerebral morphology, Subcortical cere... |
ORPHA:79321 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Hepatomegaly, Pontocerebellar atrophy, Cholelithiasis, Primary ... |
OMIM:619273 |
Autosomal Erythropoietic Protoporphyria |
|
Cirrhosis, Decreased liver function, Cholelithiasis, Microcytic anemia |
ORPHA:79278 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pulmonary insufficiency, Hepatic fibrosis, Pancreatic cysts, Bile duct proliferation, Polycystic ... |
OMIM:208500 |
Disorder Of Bile Acid Synthesis |
|
Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnormality of the liver |
ORPHA:79168 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Atrial fibrillation, Cholelithiasis, Hypogonadism, Atrial flutter, Cerebral a... |
OMIM:160900 |
Caroli Disease |
|
Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarcinoma, Hepatic fibrosis, Cholelithiasis, El... |
ORPHA:53035 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Increased hepatic echogenicity, Elevated hepatic transaminase, Bile duct proliferat... |
OMIM:619525 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... |
OMIM:613470 |
Joubert Syndrome 30 |
|
Dandy-Walker malformation, Cerebellar atrophy, Ventriculomegaly, Molar tooth sign on MRI, Gray ma... |
OMIM:617622 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Cerebral calcification, Bile duct proliferation, Anemia, Cirrhosis, Hepatic steatos... |
OMIM:613658 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI, Anemia, Portal fibrosis |
OMIM:619113 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... |
ORPHA:79303 |
Hyperbiliverdinemia |
|
Decreased liver function, Cholelithiasis, Cholestasis |
OMIM:614156 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... |
OMIM:617394 |
Joubert Syndrome 9 |
|
Molar tooth sign on MRI, Hepatic fibrosis, Ventriculomegaly |
OMIM:612285 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology |
ORPHA:438274 |
Slc35A2-Cdg |
|
Dandy-Walker malformation, Abnormal midbrain morphology, Cerebellar atrophy, Cerebral white matte... |
ORPHA:356961 |
Sickle Cell Anemia |
|
Abnormality of the spleen, Leukocytosis, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Patent ductus arteriosus, Hydrocephalus, Hepatic failure, Cerebral atrophy, Eleva... |
OMIM:614886 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Epistaxis, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with e... |
OMIM:211600 |
Coach Syndrome 1 |
|
Hepatomegaly, Hypertension, Hepatic fibrosis, Aplasia/Hypoplasia of the cerebellar vermis, Spleno... |
OMIM:216360 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Anencephaly, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus call... |
ORPHA:1908 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:235700 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Cholelithiasis, Hepatic failure |
OMIM:177000 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Cholelithiasis, Elevated circulating alkaline phosphatase concentration, Intrahepat... |
OMIM:605479 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Hypogonadism, Abnormal enzyme/co... |
ORPHA:79095 |
Biliary Malformation With Renal Tubular Insufficiency |
|
Biliary hyperplasia, Jaundice |
OMIM:210550 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Giant cell hepatitis, Cholelithiasis, Jaundice |
OMIM:214980 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemoly... |
OMIM:232800 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, B lymphocytopenia, Pancreatic hypoplasia, Cholelithiasis, Biliary hyperplasia, Seve... |
ORPHA:83617 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Hydrocephalus, Agenesis of corpus callosum |
OMIM:614120 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:611881 |
Posterior Meningocele |
|
Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Lipomyelomeningocele |
ORPHA:268810 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Right ventricular failure, Hepatomegaly, Facial telangiectasia, Elevated alkaline phosphatase of ... |
ORPHA:100085 |
Hereditary Spherocytosis |
|
Hepatomegaly, Restrictive cardiomyopathy, Anemia, Cholelithiasis, Splenomegaly, Extramedullary he... |
ORPHA:822 |
Sickle Cell Anemia |
|
Hepatomegaly, Leukocytosis, Hypertension, Priapism, Cholelithiasis, Splenomegaly, Increased red c... |
OMIM:603903 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... |
OMIM:194380 |
Hereditary Hemorrhagic Telangiectasia |
|
Cerebral hemorrhage, Conjunctival telangiectasia, Telangiectasia of the skin, Cholelithiasis, Epi... |
ORPHA:774 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Abnorma... |
ORPHA:400 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice |
OMIM:266200 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice |
OMIM:182900 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Por... |
ORPHA:171 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... |
OMIM:615512 |
Arima Syndrome |
|
Hepatomegaly, Occipital meningocele, Brainstem dysplasia, Hepatic fibrosis, Agenesis of cerebella... |
OMIM:243910 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Hydrocephalus, Microcephaly |
ORPHA:1926 |
Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Elliptocytosis, Poikil... |
ORPHA:288 |
Adult Krabbe Disease |
|
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal pons morphology, Abn... |
ORPHA:206448 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Abnormality of the ductus choledochus, A... |
ORPHA:436252 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Cholelithiasis, Myocardial infarction, Cerebral atrophy, Abnormal dentate nuc... |
OMIM:213700 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Accessory spleen, Hypoplasia of the brainstem, Hypoplasia of the corpus... |
OMIM:619306 |
Joubert Syndrome 1 |
|
Brainstem dysplasia, Occipital myelomeningocele, Hepatic fibrosis, Agenesis of cerebellar vermis,... |
OMIM:213300 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Megaloblastic anemia, Cholelithiasis |
ORPHA:309108 |
Fanconi Anemia, Complementation Group Q |
|
Biliary atresia, Microcephaly |
OMIM:615272 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Cholelithiasis |
ORPHA:3166 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Dandy-Walker malformation, Cyst of the ductus choledochus, Abnormal cortical gyration, Hypoplasti... |
ORPHA:480880 |
Primary Biliary Cholangitis |
|
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Orthostati... |
ORPHA:186 |
Iniencephaly |
|
Anencephaly, Myelomeningocele, Holoprosencephaly, Lissencephaly, Spina bifida, Hydrocephalus, Spi... |
ORPHA:63259 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Normochromic anemia, Bradycardia, Cholelithiasis, Thrombocytopenia |
OMIM:618775 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal pons morphology, Abn... |
ORPHA:68 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Arrhythmia, Cholelithiasis |
ORPHA:171876 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Leukopenia, Biliary tract obstruction, Pulmonary arterial hypertension, Anemia, Spl... |
ORPHA:77259 |
Ppoma |
|
Hepatomegaly, Neoplasm of the pancreas, Cholelithiasis, Increased circulating gonadotropin level,... |
ORPHA:97278 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Spinal dysraphism |
OMIM:612918 |
Gallbladder Neuroendocrine Tumor |
|
Elevated alkaline phosphatase of hepatic origin, Biliary tract obstruction, Biliary tract neoplas... |
ORPHA:100086 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... |
ORPHA:209902 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Absent gallbladder, Biliary atresia, Cho... |
OMIM:615710 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Abnormal T-wave, Hypoplasia of the pons, Ventriculomegaly, Inferior... |
ORPHA:444072 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Microcephaly |
OMIM:617660 |
Microgastria-Limb Reduction Defects Association |
|
Fusion of the left and right thalami, Arrhinencephaly, Asplenia, Splenogonadal fusion, Absent gal... |
OMIM:156810 |
Grfoma |
|
Hepatomegaly, Pheochromocytoma, Neoplasm of the pancreas, Cholelithiasis, Increased circulating g... |
ORPHA:97261 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Hypoplastic nipples, Cholelithiasis, Abnormal corpus callosum morphology, Splenomeg... |
OMIM:618268 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Hypoparathyroidism, Asplenia, Cholelithiasis, Male hypogonadism, Premat... |
OMIM:240300 |
Metachromatic Leukodystrophy |
|
Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology, Periventricular leukomal... |
ORPHA:512 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Cyst of the ductus choledochus, Partial agenesis of the corpus callosum, Patent ductus arteriosus... |
OMIM:619480 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Dilated third ventricle, Pulmonary arterial hypertension, Cholelithiasis, Cavum septum pellucidum... |
ORPHA:464738 |
Lathosterolosis |
|
Anisopoikilocytosis, Increased mean platelet volume, Schistocytosis, Myelomeningocele, Elevated h... |
OMIM:607330 |
8P Inverted Duplication/Deletion Syndrome |
|
Dandy-Walker malformation, Aplasia/Hypoplasia of the gallbladder, Cerebellar hypoplasia, Cryptorc... |
ORPHA:96092 |
Martinez-Frias Syndrome |
|
Extrahepatic biliary duct atresia, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Annular ... |
OMIM:601346 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatic fibrosis, Azoospermia, Pulmonary arterial hypertension, Anemia... |
ORPHA:2072 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cryptorchidism, Decreased testicular size, Cholelithiasis, Microcephaly |
OMIM:300534 |
Bohring-Opitz Syndrome |
|
Dandy-Walker malformation, Annular pancreas, Cholelithiasis, Bradycardia, Ventriculomegaly, Hypop... |
ORPHA:97297 |
Japanese Encephalitis |
|
Abnormal midbrain morphology, Abnormal pons morphology, Abnormal cerebral morphology, Abnormal ca... |
ORPHA:79139 |
Distal Trisomy 5Q |
|
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Microcephaly |
ORPHA:96097 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Dilated cardiomyopathy, Prolonged QRS complex, Atrial fibrillation, Cardiac c... |
ORPHA:273 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Cholelithiasis, Neoplasm of the liver, Splenomegaly, Cirrhosis, Decreased liver fun... |
ORPHA:77293 |
Semilobar Holoprosencephaly |
|
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... |
ORPHA:93924 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Abnormal globus pallidus morphology, Cholelithiasis, Abnormal dentate nucleus... |
ORPHA:909 |
Trisomy 8P |
|
Dandy-Walker malformation, Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Hydrocephalus... |
ORPHA:264450 |
Heterotaxy, Visceral, 1, X-Linked |
|
Abdominal situs inversus, Asplenia, Patent ductus arteriosus, Pulmonic stenosis, Biliary atresia,... |
OMIM:306955 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Umbilical hernia |
OMIM:301066 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Aplasia/Hypoplasia of the gallbladder, Patent ductus arteriosus, Anterior ... |
ORPHA:2255 |
Duplication Of The Pituitary Gland |
|
Abnormal midbrain morphology, Abnormal hypothalamus morphology, Abnormality of the pituitary glan... |
ORPHA:314621 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Arrhinencephaly, Hypoparathyroidism, Occipital myelomeningocele, Hypoplasia of the t... |
ORPHA:567 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Infertility, Biliary tract obstruction, Megaloblastic anemia, Exocrine pancreatic insufficiency, ... |
OMIM:219721 |
Porphyria, Congenital Erythropoietic |
|
Thrombocytopenia, Hemolytic anemia, Cholelithiasis, Splenomegaly |
OMIM:263700 |
Neurofibroma |
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Enlargement of parotid gland, Intestinal bleeding, Abnormal biliary tract morphology |
ORPHA:252183 |
Schinzel-Giedion Syndrome |
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Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Umbilical hernia, Neural tube defect |
ORPHA:798 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Abnormal midbrain morphology, Central diabetes insipidus, Gonadotropin deficiency, Adrenocorticot... |
ORPHA:293987 |
Peters-Plus Syndrome |
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Agenesis of corpus callosum, Patent ductus arteriosus, Ventriculomegaly, Pulmonic stenosis, Hydro... |
OMIM:261540 |
Williams Syndrome |
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Cerebral ischemia, Patent ductus arteriosus, Umbilical hernia, Hypertrophic cardiomyopathy, Hyper... |
ORPHA:904 |
Digeorge Syndrome |
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Parathyroid agenesis, Cholelithiasis, Patent ductus arteriosus, Parathyroid hypoplasia, Umbilical... |
OMIM:188400 |