Major Depressive Disorder |
|
Depression |
OMIM:608516 |
Major Affective Disorder 1 |
|
Depression, Mania |
OMIM:125480 |
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 |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Joubert Syndrome 6 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Bi... |
OMIM:610688 |
Gallbladder Disease 1 |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... |
OMIM:600803 |
Sclerosing Cholangitis, Neonatal |
|
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... |
OMIM:617394 |
Pandas |
|
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... |
ORPHA:66624 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... |
OMIM:613812 |
Biliary Atresia, Extrahepatic |
|
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:210500 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... |
OMIM:602347 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Scler... |
OMIM:619662 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi... |
ORPHA:79302 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation, Bile duct prolif... |
OMIM:607361 |
Nephronophthisis 19 |
|
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... |
OMIM:616217 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Dandy-Walker malformation, Cholestasis, Biliary... |
OMIM:208540 |
Meckel Syndrome, Type 4 |
|
Molar tooth sign on MRI, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker mal... |
OMIM:611134 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat... |
OMIM:613027 |
Meckel Syndrome, Type 7 |
|
Dandy-Walker malformation, Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct prolife... |
OMIM:267010 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... |
OMIM:607626 |
Isolated Biliary Atresia |
|
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... |
ORPHA:30391 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Parenteral Nutrition-Associated Cholestasis |
|
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... |
ORPHA:567983 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Portal fibrosis, Elevated circulating hepatic transaminase concentration... |
OMIM:619111 |
Caroli Syndrome |
|
Hematemesis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrah... |
ORPHA:480520 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular... |
OMIM:618329 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Gastr... |
ORPHA:79301 |
Mirizzi Syndrome |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ... |
ORPHA:521219 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Dandy-Walker malformation, Abnormal biliary tract morpholog... |
ORPHA:3032 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Anencephaly, Hydrocephalus, Bile duct proliferation, Cystic liver diseas... |
OMIM:612284 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Anencephaly, Spina bifida |
ORPHA:2476 |
Meckel Syndrome, Type 2 |
|
Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Bile duct proliferation |
OMIM:603194 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... |
ORPHA:562639 |
D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Polymicrogyria, Cholestasi... |
OMIM:261515 |
Hardikar Syndrome |
|
Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, I... |
OMIM:301068 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly, Bile duct proliferation |
OMIM:611561 |
Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Ho... |
ORPHA:1908 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Cholelithiasis |
OMIM:300752 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, Anemia of inadequa... |
OMIM:224100 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... |
ORPHA:69663 |
Beta-Thalassemia |
|
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hem... |
ORPHA:848 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent... |
ORPHA:65682 |
Craniorachischisis |
|
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida |
ORPHA:63260 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Jaundice, Cholangitis, Periportal fibrosis, Hypertension, Cholestasi... |
ORPHA:731 |
Beta-Thalassemia Intermedia |
|
Decreased liver function, Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased ... |
ORPHA:231222 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... |
ORPHA:3077 |
Aprosencephaly Syndrome |
|
Anencephaly, Aprosencephaly |
OMIM:207770 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Large placenta, Molar tooth sign on MRI, Cerebellar hypoplasia, Anenceph... |
OMIM:249000 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... |
OMIM:203700 |
Autosomal Erythropoietic Protoporphyria |
|
Decreased liver function, Cirrhosis, Microcytic anemia, Cholelithiasis |
ORPHA:79278 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cholangit... |
OMIM:613610 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pulmonary insufficiency, Jaundice, Bile duct proliferation, Polycystic liver disease, Hepatic fib... |
OMIM:208500 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Left-to-right shunt, Prolonged... |
OMIM:619534 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... |
OMIM:619849 |
Caroli Disease |
|
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... |
ORPHA:53035 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Elevated circulati... |
OMIM:619525 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome... |
ORPHA:79303 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Decreased glucosephosphate isomerase leve... |
OMIM:613470 |
Coach Syndrome 1 |
|
Occipital encephalocele, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conce... |
OMIM:216360 |
Hyperbiliverdinemia |
|
Decreased liver function, Cholestasis, Cholelithiasis |
OMIM:614156 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Nonspherocytic hemolytic anemia... |
OMIM:235700 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... |
OMIM:211600 |
Liver Disease, Severe Congenital |
|
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Biliary hyperplasia, Leuk... |
OMIM:619991 |
Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Cholelithiasis... |
ORPHA:846 |
Septopreoptic Holoprosencephaly |
|
Anterior hypopituitarism, Ethmoidal encephalocele, Rhombencephalosynapsis, Abnormal midbrain morp... |
ORPHA:280195 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ane... |
OMIM:613658 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology |
ORPHA:438274 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased... |
ORPHA:3202 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Hepatomegaly, Chronic hemolytic anemia, Cholelithiasis, Reduced red cell pyruvate kinas... |
OMIM:266200 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Elevated circulating alkaline p... |
OMIM:605479 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Cholelithiasis, Atrial fibrillation, Hypogonadism, First degree atrioventricular ... |
OMIM:160900 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Cholelithiasis, Hepatic failure |
OMIM:177000 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
ORPHA:79095 |
Cimdag Syndrome |
|
Pontocerebellar atrophy, Hepatomegaly, Cholelithiasis, Cerebellar vermis hypoplasia, Microvesicul... |
OMIM:619273 |
Glycogen Storage Disease Vii |
|
Jaundice, Cholelithiasis, Elevated circulating aldolase concentration, Reduced muscle 6-phosphofr... |
OMIM:232800 |
Sickle Cell Anemia |
|
Ischemic stroke, Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Incr... |
ORPHA:232 |
Isolated Posterior Meningocele |
|
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele |
ORPHA:268810 |
Alg3-Cdg |
|
Cardiomyopathy, Neural tube defect |
ORPHA:79321 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Palpitations, Biliary trac... |
ORPHA:100085 |
Sickle Cell Disease |
|
Jaundice, Hepatomegaly, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis, Target ce... |
OMIM:603903 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... |
OMIM:194380 |
Cystic Echinococcosis |
|
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... |
ORPHA:400 |
Hereditary Spherocytosis |
|
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... |
ORPHA:822 |
Gaucher Disease Type 1 |
|
Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic... |
ORPHA:77259 |
Primary Sclerosing Cholangitis |
|
Elevated circulating hepatic transaminase concentration, Neoplasm of the gallbladder, Spider hema... |
ORPHA:171 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hydrocephalus, Patent du... |
OMIM:614886 |
Spherocytosis, Type 1 |
|
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:182900 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... |
OMIM:611881 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasia, Biliary hyperplasia, Seve... |
ORPHA:83617 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Peritoneal abscess, Hypoplasia of the thymus, Abnormal ductus choled... |
ORPHA:436252 |
Arima Syndrome |
|
Cirrhosis, Hepatomegaly, Anemia, Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Hypoplasi... |
OMIM:243910 |
Slc35A2-Cdg |
|
Elevated circulating hepatic transaminase concentration, Dandy-Walker malformation, Atrophy/Degen... |
ORPHA:356961 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Exocrine pancreatic insufficiency, Cholelithiasis |
ORPHA:309108 |
Triosephosphate Isomerase Deficiency |
|
Congestive heart failure, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholelithiasis, ... |
OMIM:615512 |
Sialuria |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatosple... |
ORPHA:3166 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Normochromic anemia, Cholelithiasis, Bradycardia, Hypertrophic card... |
OMIM:618775 |
Hereditary Elliptocytosis |
|
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... |
ORPHA:288 |
Adult Krabbe Disease |
|
Erectile dysfunction, Abnormal circulating enzyme concentration or activity, Abnormal midbrain mo... |
ORPHA:206448 |
Combined Oxidative Phosphorylation Deficiency 59 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Cholelithiasis, Severely reduced left vent... |
OMIM:620646 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Cholelithiasis, Arrhythmia |
ORPHA:171876 |
Primary Biliary Cholangitis |
|
Cirrhosis, Jaundice, Hepatomegaly, Orthostatic hypotension, Elevated circulating alkaline phospha... |
ORPHA:186 |
Iniencephaly |
|
Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bifida, Holoprosen... |
ORPHA:63259 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H... |
ORPHA:209902 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Abnormal cortical gyration, Cerebellar hypoplasia, Cyst of the ductus choledochus, Dandy-Walker m... |
ORPHA:480880 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele |
OMIM:600145 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract obstruction, Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice... |
ORPHA:100086 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Angina pectoris, Abnormal dentate nucleus morphology, Cerebellar atrophy, Myocard... |
OMIM:213700 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Premature ovarian insufficiency, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Fe... |
OMIM:240300 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Acholi... |
OMIM:615710 |
Ppoma |
|
Gastrointestinal hemorrhage, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Ch... |
ORPHA:97278 |
Trichohepatoneurodevelopmental Syndrome |
|
Decreased liver function, Hepatomegaly, Patent ductus arteriosus, Cholelithiasis, Hypoplastic nip... |
OMIM:618268 |
Hereditary Hemorrhagic Telangiectasia |
|
Tongue telangiectasia, Gastrointestinal hemorrhage, Nasal mucosa telangiectasia, Epistaxis, Chole... |
ORPHA:774 |
Cerebellar-Facial-Dental Syndrome |
|
Inferior cerebellar vermis hypoplasia, Abnormal midbrain morphology, Hypoplasia of the pons, Cere... |
ORPHA:444072 |
Grfoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Ch... |
ORPHA:97261 |
Metachromatic Leukodystrophy |
|
Neoplasm of the gallbladder, Hemobilia, Abnormal circulating enzyme concentration or activity, Ab... |
ORPHA:512 |
8P Inverted Duplication/Deletion Syndrome |
|
Dandy-Walker malformation, Cryptorchidism, Cerebellar hypoplasia, Aplasia/Hypoplasia of the gallb... |
ORPHA:96092 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Cyst of the ductus choledochus, Patent ductus arteriosus, Spina bifida |
OMIM:619480 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Decreased testicular size, Cryptorchidism, Cholelithiasis |
OMIM:300534 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Anemia, Cholelithiasis, Pancytopenia, Hydrocephalus, Azoospermia, Spontaneous, recurrent epistaxi... |
ORPHA:2072 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal brainstem MRI signal intensity, Increased red blood cell count, Myocardial necrosis, Abn... |
ORPHA:68 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Dilated third ventricle, Cholelithiasis, Lateral ventricle dilat... |
ORPHA:464738 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ... |
ORPHA:77293 |
Gaucher Disease |
|
Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Hydrocephalus, Splenic infarction,... |
ORPHA:355 |
Porphyria, Congenital Erythropoietic |
|
Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Reduced erythrocyte uropo... |
OMIM:263700 |
Steinert Myotonic Dystrophy |
|
Decreased fertility, Decreased response to growth hormone stimulation test, Left ventricular syst... |
ORPHA:273 |
Distal Duplication 5Q |
|
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Cerebrotendinous Xanthomatosis |
|
Abnormal cerebellar peduncle morphology, Cholelithiasis, Abnormal circulating enzyme concentratio... |
ORPHA:909 |
Bohring-Opitz Syndrome |
|
Annular pancreas, Cholelithiasis, Bradycardia, Dandy-Walker malformation, Ventriculomegaly |
ORPHA:97297 |
Semilobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology |
ORPHA:93924 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cholelithiasis, Hepatosplenomegaly, Umbilical hernia, Cholecystitis |
OMIM:301066 |
Trisomy 8P |
|
Annular pancreas, Hydrocephalus, Dandy-Walker malformation, Heart murmur, Cryptorchidism, Aplasia... |
ORPHA:264450 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Biliary atresia, Patent ductus arteriosus, Pancreatic hypoplasia, Pa... |
ORPHA:2255 |
Japanese Encephalitis |
|
Abnormal midbrain morphology, Neutrophilia, Abnormal substantia nigra morphology, Abnormal pons m... |
ORPHA:79139 |
Neurofibroma |
|
Abnormal biliary tract morphology, Intestinal bleeding, Enlargement of parotid gland |
ORPHA:252183 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Corneal neovascularization, Hypoparathyroidism, Patent ductus arteri... |
ORPHA:567 |
Schinzel-Giedion Syndrome |
|
Abnormal heart morphology, Neural tube defect, Umbilical hernia |
ORPHA:798 |
Duplication Of The Pituitary Gland |
|
Abnormal pituitary gland morphology, Encephalocele, Abnormal midbrain morphology |
ORPHA:314621 |
Williams Syndrome |
|
Congestive heart failure, Patent ductus arteriosus, Spina bifida occulta, Cholelithiasis, Suprava... |
ORPHA:904 |
Digeorge Syndrome |
|
Anemia, Patent ductus arteriosus, Cholelithiasis, Hypoplasia of the thymus, Parathyroid hypoplasi... |
OMIM:188400 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ... |
ORPHA:293987 |