Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
Diaphragmatic Hernia 5, X-Linked |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism |
DECIPHER:39 |
Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... |
OMIM:210500 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:261102 |
Hyperbiliverdinemia |
|
Cholestasis, Cholelithiasis, Decreased liver function |
OMIM:614156 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia |
OMIM:614100 |
Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology |
ORPHA:438274 |
Cutis Laxa-Marfanoid Syndrome |
|
Flexion contracture, Congenital diaphragmatic hernia |
ORPHA:171719 |
Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia |
ORPHA:99811 |
Congenital Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm |
ORPHA:2140 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration |
OMIM:300752 |
Isolated Anencephaly |
|
Thymus hyperplasia, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:563609 |
Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele |
OMIM:613630 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphragm |
OMIM:601163 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Cholelithiasis, Splenomegaly |
OMIM:224100 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... |
ORPHA:65682 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice |
OMIM:605479 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia, Cryptorchidism |
OMIM:615524 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:2141 |
Acrocallosal Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:36 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Biliary atresia, Myositis, Calf... |
ORPHA:565899 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice |
OMIM:613470 |
Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia, Umbilical hernia |
ORPHA:380 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Cirrhosis, Decreased liver function |
ORPHA:79278 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:1166 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure |
OMIM:177000 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... |
OMIM:211600 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Cholelithiasis |
ORPHA:309108 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis |
OMIM:235700 |
Glycogen Storage Disease Vii |
|
Increased variability in muscle fiber diameter, Jaundice, Increased muscle glycogen content, Chol... |
OMIM:232800 |
Schisis Association |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:63862 |
Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:95706 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Congenital diaphragmatic hernia |
OMIM:300887 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Port... |
OMIM:617394 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... |
ORPHA:79095 |
Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia |
ORPHA:2143 |
Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Porta... |
ORPHA:53035 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:166300 |
Spherocytosis, Type 1 |
|
Jaundice, Cholelithiasis, Splenomegaly |
OMIM:182900 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Umbilical hernia, Congenital diaphragmatic hernia, Polycystic ovaries |
ORPHA:284180 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Flexion contracture, Congenital diaphragmatic hernia, Omphalocele |
OMIM:263210 |
Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Congenital diaphragmatic hernia, Cryptorchidism |
OMIM:300978 |
Genitopalatocardiac Syndrome |
|
Abnormal mesentery morphology, Abnormality of the gallbladder, Congenital diaphragmatic hernia, C... |
ORPHA:2075 |
Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
Mirizzi Syndrome |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, Gallbladde... |
ORPHA:521219 |
46,Xx Sex Reversal 5 |
|
Aplasia of the left hemidiaphragm |
OMIM:618901 |
Glycogen Storage Disease Xii |
|
Increased variability in muscle fiber diameter, Cholelithiasis, Cholecystitis, Myopathy, Splenome... |
OMIM:611881 |
Cebalid Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618774 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Elbow flexion contracture, Congenital diaphragmatic hernia |
OMIM:618022 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Jaundice |
OMIM:266200 |
Matthew-Wood Syndrome |
|
Annular pancreas, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal spleen morphology, Ap... |
ORPHA:2470 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... |
OMIM:602347 |
Coffin-Siris Syndrome 3 |
|
Macroglossia, Umbilical hernia, Inguinal hernia, Central diaphragmatic hernia |
OMIM:614608 |
Craniofrontonasal Dysplasia |
|
Congenital diaphragmatic hernia, Camptodactyly of finger |
ORPHA:1520 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Cholelithiasis, Hepatitis |
ORPHA:848 |
Cooper-Jabs Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia, Camptodactyly of finger |
ORPHA:1488 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Facial diplegia |
OMIM:160900 |
13Q12.3 Microdeletion Syndrome |
|
Camptodactyly, Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:412035 |
Isolated Biliary Atresia |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... |
ORPHA:30391 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:139466 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Aplasia of the left hemidiaphragm |
OMIM:618238 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:619699 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:2063 |
15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Hernia, Congenital diaphragmatic hernia, C... |
ORPHA:94065 |
Proximal 16P11.2 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:370079 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Congenital diaphragmatic hernia, Polysplenia, Omphalocele |
ORPHA:1335 |
Martinez-Frias Syndrome |
|
Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal... |
OMIM:601346 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... |
ORPHA:209902 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:194380 |
1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:250999 |
Jansen-De Vries Syndrome |
|
Central diaphragmatic hernia |
OMIM:617450 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
Primary Sclerosing Cholangitis |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepati... |
ORPHA:171 |
Craniorachischisis |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:63260 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Abnormality of the liver, Splenomeg... |
ORPHA:231222 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology |
ORPHA:3032 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the spleen, Abnormality of the liver, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:1834 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... |
OMIM:613812 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Skeletal muscle atrophy, Cholecystitis, Myopathy, Splenomegaly, Prolonged neonata... |
OMIM:615512 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... |
ORPHA:79302 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Umbilical hernia, Camptodactyly of finger, Inguinal hernia, Congenital diaphragmatic hernia, Cryp... |
ORPHA:2311 |
Pericardial And Diaphragmatic Defect |
|
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm |
ORPHA:2847 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Biliary atresia, Acholi... |
OMIM:615710 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Congenital diaphragmatic hernia |
OMIM:606164 |
Intellectual Disability-Strabismus Syndrome |
|
Joint contracture of the hand, Decreased response to growth hormone stimulation test, Congenital ... |
ORPHA:363528 |
Emanuel Syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia, Inguinal hernia, Joint contracture, Torticollis |
OMIM:609029 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, Decreased testicular size, Distal lower limb amyotrophy, Cryptorchidism, Facial h... |
OMIM:300534 |
Vacterl/Vater Association |
|
Abnormality of the gallbladder, Congenital diaphragmatic hernia, Cryptorchidism, Omphalocele, Abn... |
ORPHA:887 |
Trisomy 1Q |
|
Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism, Camptodactyly of finger |
ORPHA:261344 |
Lowry-Maclean Syndrome |
|
Inguinal hernia, Abnormality of the abdominal organs, Congenital diaphragmatic hernia, Bilateral ... |
ORPHA:2409 |
Sialuria |
|
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Cholel... |
ORPHA:3166 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia, Omphalocele, Diaphragmatic eventration |
OMIM:222448 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619662 |
Oculocerebrocutaneous Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:1647 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Emanuel Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Multiple joint contractures |
ORPHA:96170 |
Cimdag Syndrome |
|
Hepatomegaly, Cholelithiasis, Lipodystrophy, Microvesicular hepatic steatosis |
OMIM:619273 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:1120 |
Thoracoabdominal Syndrome |
|
Ventral hernia, Congenital diaphragmatic hernia, Omphalocele |
OMIM:313850 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Supernumerary nipple |
OMIM:612530 |
2Q37 Microdeletion Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia, Supernumerary nipple |
ORPHA:1001 |
Fetal Alcohol Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:1915 |
Ppoma |
|
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Increased circulating prolactin conc... |
ORPHA:97278 |
Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hy... |
ORPHA:77259 |
Zaki Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:619648 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Congenital diaphragmatic hernia, Joint contracture |
OMIM:615919 |
Meckel Syndrome, Type 6 |
|
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease |
OMIM:612284 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure |
OMIM:614886 |
Czeizel-Losonci Syndrome |
|
Hypoplastic nipples, Posterolateral diaphragmatic hernia, Aplasia of the left hemidiaphragm |
ORPHA:2437 |
Halperin-Birk Syndrome |
|
Flexion contracture, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia |
OMIM:618651 |
Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... |
ORPHA:1414 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis, Congenital diaphragmatic hernia |
OMIM:611812 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Umbilical hernia, Congenital diaphragmatic hernia, Knee flexion contracture, Multiple joint contr... |
OMIM:265000 |
Alpha-Thalassemia |
|
Cholelithiasis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Jaundice |
ORPHA:846 |
North American Indian Childhood Cirrhosis |
|
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension |
OMIM:604901 |
Distal Duplication 5Q |
|
Hernia, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism |
ORPHA:96097 |
Diamond-Blackfan Anemia 10 |
|
Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia |
OMIM:613309 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Acute hepatic failure, Umbilical hernia, Abnormal dental enamel morpholo... |
ORPHA:2092 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Camptodactyly, Congenital diaphragmatic hernia, Cryptorchidism |
OMIM:617602 |
Mosaic Trisomy 1 |
|
Camptodactyly of finger, Elbow flexion contracture, Congenital diaphragmatic hernia, Hepatic agen... |
ORPHA:1692 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia |
OMIM:219100 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... |
OMIM:607626 |
Grfoma |
|
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Increased circulating prolactin conc... |
ORPHA:97261 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:603903 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pancreatic hypoplasia, Umbilical hernia, Absent gallbladder, Congenital diaphragmatic hernia, Ing... |
OMIM:600001 |
Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Congenital diaphragmatic hernia, Cryptorchidism, Inguinal hernia, Hypoplas... |
OMIM:601186 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Enamel hypoplasia, Chronic active hepatitis, Hypoparathyroidism, Asplenia |
OMIM:240300 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:251071 |
Arterial Tortuosity Syndrome |
|
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contra... |
OMIM:208050 |
Seckel Syndrome 9 |
|
Congenital diaphragmatic hernia |
OMIM:616777 |
Combined Oxidative Phosphorylation Deficiency 59 |
|
Cholelithiasis |
OMIM:620646 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261197 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis |
ORPHA:171876 |
Chromosome 15Q25 Deletion Syndrome |
|
Polysplenia, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism |
OMIM:614294 |
White-Sutton Syndrome |
|
Facial hypotonia, Congenital diaphragmatic hernia |
OMIM:616364 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Pancreatic hypoplasia, Umbilical hernia, Exocrine pancreatic insuffi... |
ORPHA:2255 |
Denys-Drash Syndrome |
|
Ovarian gonadoblastoma, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia |
OMIM:194080 |
Cerebrotendinous Xanthomatosis |
|
Tendon xanthomatosis, Cholelithiasis, Lower limb muscle weakness |
OMIM:213700 |
8P Inverted Duplication/Deletion Syndrome |
|
Aplasia/Hypoplasia of the gallbladder, Small hypothenar eminence, Contractures of the large joint... |
ORPHA:96092 |
Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly |
OMIM:607361 |
White-Sutton Syndrome |
|
Facial hypotonia, Ventral hernia, Inguinal hernia, Congenital diaphragmatic hernia |
ORPHA:468678 |
Hereditary Spherocytosis |
|
Hepatomegaly, Jaundice, Cholelithiasis, Splenomegaly |
ORPHA:822 |
Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Decreased liver function, Exocrine pancreatic insufficiency, Splenomegaly, Distal... |
OMIM:618268 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Supernumerary nipple, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Cryptor... |
OMIM:618454 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:958 |
Fryns Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:2059 |
Perlman Syndrome |
|
Pancreatic islet-cell hyperplasia, Hypoplasia of the abdominal wall musculature, Congenital diaph... |
OMIM:267000 |
Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... |
OMIM:613027 |
Porphyria, Congenital Erythropoietic |
|
Joint contracture of the hand, Cholelithiasis, Atypical scarring of skin, Corneal scarring, Splen... |
OMIM:263700 |
Metachromatic Leukodystrophy |
|
Hemobilia, Neoplasm of the gallbladder, Abnormal gallbladder morphology |
ORPHA:512 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Elbow flexion contracture, Left ventricular hypertrophy, Inguinal hernia, Congenital diaphragmati... |
OMIM:245600 |
Meckel Syndrome, Type 7 |
|
Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Inguinal hernia, Bile du... |
OMIM:267010 |
Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:1780 |
Craniofrontonasal Syndrome |
|
Umbilical hernia, Breast hypoplasia, Congenital diaphragmatic hernia, Cryptorchidism, Unilateral ... |
OMIM:304110 |
Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice |
ORPHA:3202 |
Trisomy 18 |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Hernia, Omphalocele |
ORPHA:3380 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Contracture of the proximal interphalangeal joint of the 3rd finger, Inguinal hernia |
ORPHA:464738 |
Hereditary Elliptocytosis |
|
Prolonged neonatal jaundice, Jaundice, Cholelithiasis, Splenomegaly |
ORPHA:288 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Hydrocele testis, Congenital diaphragmatic hernia |
OMIM:614080 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Pigment gallstones, Abnormality of the spleen, Jaundice |
ORPHA:232 |
Simpson-Golabi-Behmel Syndrome |
|
Polysplenia, Supernumerary nipple, Camptodactyly of finger, Umbilical hernia, Congenital diaphrag... |
ORPHA:373 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis |
OMIM:618775 |
Diets-Jongmans Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Umbilical hernia |
OMIM:618846 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Morgagni diaphragmatic hernia, Umbilical hernia, Posterolateral diaphragmatic h... |
OMIM:613177 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cholelithiasis, Umbilical hernia, Hepatosplenomegaly, Cholecystitis, Hepatomegaly |
OMIM:301066 |
Lathosterolosis |
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Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase conce... |
OMIM:607330 |
Opitz Gbbb Syndrome |
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Umbilical hernia, Congenital diaphragmatic hernia, Cryptorchidism, Inguinal hernia, Enlarged ovar... |
ORPHA:2745 |
Cornelia De Lange Syndrome 1 |
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Elbow flexion contracture, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Hiat... |
OMIM:122470 |
Cystic Echinococcosis |
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Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati... |
ORPHA:400 |
Oligomeganephronia |
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Congenital diaphragmatic hernia |
ORPHA:2260 |
Meacham Syndrome |
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Abnormality of the spleen, Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:3097 |
Aymé-Gripp Syndrome |
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Breast hypoplasia, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Camptodactyly |
ORPHA:1272 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
Bohring-Opitz Syndrome |
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Cholelithiasis, Congenital contracture, Annular pancreas, Facial hypotonia, Bilateral wrist flexi... |
ORPHA:97297 |
7Q11.23 Microduplication Syndrome |
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Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:96121 |
Mycophenolate Mofetil Embryopathy |
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Congenital diaphragmatic hernia |
ORPHA:268249 |
Holoprosencephaly |
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Panhypopituitarism, Abnormality of the spleen, Congenital diaphragmatic hernia, Cryptorchidism, O... |
ORPHA:2162 |
Wolf-Hirschhorn Syndrome |
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Abdominal situs inversus, Abnormality of the gallbladder, Congenital diaphragmatic hernia, Crypto... |
ORPHA:280 |
Pagod Syndrome |
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Abnormality of the spleen, Congenital diaphragmatic hernia, Omphalocele, Abnormal testis morphology |
ORPHA:991 |
Beckwith-Wiedemann Syndrome |
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Abnormal pancreas morphology, Umbilical hernia, Exocrine pancreatic insufficiency, Diastasis rect... |
ORPHA:116 |
Trisomy 8P |
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Annular pancreas, Multiple joint contractures, Cryptorchidism, Hernia, Aplasia/Hypoplasia of the ... |
ORPHA:264450 |
Steinert Myotonic Dystrophy |
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Abnormality of the tongue muscle, Cholelithiasis, Distal amyotrophy, Skeletal muscle atrophy, Ele... |
ORPHA:273 |
Acrorenal-Mandibular Syndrome |
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Elbow flexion contracture, Absent nipple, Congenital diaphragmatic hernia |
OMIM:200980 |
Cerebrotendinous Xanthomatosis |
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Tendon xanthomatosis, Distal amyotrophy, Cholelithiasis, Abnormality of the Achilles tendon, Prol... |
ORPHA:909 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
ORPHA:562639 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Congenital diaphragmatic hernia |
OMIM:616546 |
Smith-Lemli-Opitz Syndrome |
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Abnormal dental enamel morphology, Abnormality of the gallbladder, Congenital diaphragmatic herni... |
ORPHA:818 |
Monosomy 9P |
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Hernia, Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:261112 |
Congenital Alveolar Capillary Dysplasia |
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Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Cholelithiasis, Pancreatic hypoplasia, Contracture of the distal interphalangeal joint of the fin... |
ORPHA:83617 |
Loeys-Dietz Syndrome 6 |
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Camptodactyly, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia |
OMIM:619656 |
Iniencephaly |
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Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:63259 |
Caroli Syndrome |
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Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
ORPHA:480520 |
Tetraamelia Syndrome 1 |
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Adrenal gland agenesis, Asplenia, Congenital diaphragmatic hernia |
OMIM:273395 |
Poland Syndrome |
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Abnormality of the liver, Absence of subcutaneous fat, Cryptorchidism, Congenital diaphragmatic h... |
ORPHA:2911 |
Kabuki Syndrome |
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Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:2322 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Congenital diaphragmatic hernia |
OMIM:309801 |
Triploidy |
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Abnormality of the gallbladder, Cryptorchidism, Omphalocele, Hepatomegaly, Macroglossia, Abnormal... |
ORPHA:3376 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
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Congenital diaphragmatic hernia, Cryptorchidism |
OMIM:617641 |
Limb Body Wall Complex |
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Ventral hernia, Abnormality of the liver, Diastasis recti, Congenital diaphragmatic hernia |
ORPHA:2369 |
Gaucher Disease |
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Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Splenomegaly, Cirrhosis, Splenic ... |
ORPHA:355 |
Fucosidosis |
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Hepatomegaly, Abnormality of the gallbladder, Lipoatrophy, Decreased muscle mass |
ORPHA:349 |
22Q11.2 Deletion Syndrome |
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Cholelithiasis, Umbilical hernia, Abnormal dental enamel morphology, Cryptorchidism, Splenomegaly... |
ORPHA:567 |
Distal Deletion 15Q |
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Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:1596 |
Meckel Syndrome, Type 2 |
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Bile duct proliferation, Omphalocele |
OMIM:603194 |
Trisomy 10P |
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Camptodactyly, Absent gallbladder, Decreased muscle mass |
ORPHA:171929 |
Mullegama-Klein-Martinez Syndrome |
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Facial palsy, Congenital diaphragmatic hernia |
OMIM:301022 |
Cardiac-Urogenital Syndrome |
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Accessory spleen, Congenital diaphragmatic hernia, Cryptorchidism, Hepatopulmonary fusion, Unilat... |
OMIM:618280 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
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Absent gallbladder, Pancreatic aplasia |
ORPHA:556955 |
Meacham Syndrome |
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Accessory spleen, Aplasia of the right hemidiaphragm, Aplasia of the left hemidiaphragm, Diaphrag... |
OMIM:608978 |
Acrofacial Dysostosis 1, Nager Type |
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Congenital diaphragmatic hernia |
OMIM:154400 |
Focal Dermal Hypoplasia |
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Supernumerary nipple, Umbilical hernia, Diastasis recti, Congenital diaphragmatic hernia, Cryptor... |
OMIM:305600 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Abnormal testis morphology |
ORPHA:2556 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Scarring, Inguinal hernia, Congenital diaphragmatic hernia, Hypoplasia of the diaphragm |
OMIM:614437 |
C Syndrome |
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Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele, Congenital diaphragmatic herni... |
ORPHA:1308 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Camptodactyly, Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital di... |
OMIM:301044 |
Pseudoaminopterin Syndrome |
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Asplenia, Inguinal hernia, Posterolateral diaphragmatic hernia, Cryptorchidism |
ORPHA:221120 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Splenomegaly, Neoplasm ... |
ORPHA:77293 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
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Exocrine pancreatic insufficiency, Absent gallbladder, Elevated circulating alanine aminotransfer... |
OMIM:618500 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Polysplenia, Supernumerary nipple, Umbilical hernia, Diastasis recti, Congenital diaphragmatic he... |
OMIM:312870 |
Digeorge Syndrome |
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Cholelithiasis, Parathyroid hypoplasia, Umbilical hernia, Hepatic steatosis, Ovarian cyst, Spleno... |
OMIM:188400 |
Craniofacioskeletal Syndrome |
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Absent gallbladder, Cryptorchidism |
OMIM:300712 |
Gallbladder Neuroendocrine Tumor |
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Biliary tract neoplasm, Cholecystitis, Intermittent jaundice, Biliary tract obstruction, Extrahep... |
ORPHA:100086 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Splenomegaly |
ORPHA:2072 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Absent gallbladder, Omphalocele |
ORPHA:3186 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Hepatomegaly, Cryptorchidism, Aplasia of the left hemidiaphragm, Diaphragmatic eventration |
OMIM:620025 |
Meckel Syndrome, Type 5 |
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Bile duct proliferation |
OMIM:611561 |
Tetrasomy 9P |
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Umbilical hernia, Abnormal dental enamel morphology, Absent gallbladder, Cryptorchidism, Biliary ... |
ORPHA:3310 |
Cardiospondylocarpofacial Syndrome |
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Decreased testicular size, Congenital diaphragmatic hernia |
OMIM:157800 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Absent gallbladder, Cryptorchidism |
ORPHA:163979 |
Hardikar Syndrome |
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Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:301068 |
Steinfeld Syndrome |
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Absent gallbladder |
OMIM:184705 |
Coffin-Siris Syndrome 1 |
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Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Umbilical hernia |
OMIM:135900 |
Zttk Syndrome |
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Flexion contracture, Absent gallbladder |
OMIM:617140 |
Williams Syndrome |
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Cholelithiasis, Umbilical hernia, Abnormal dental enamel morphology, Cryptorchidism, Myopathy, Po... |
ORPHA:904 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Absent gallbladder |
OMIM:617925 |
Witteveen-Kolk Syndrome |
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Decreased response to growth hormone stimulation test, Unilateral cryptorchidism, Inguinal hernia... |
OMIM:613406 |
Cornelia De Lange Syndrome |
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Hypoplastic nipples, Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:199 |
Hereditary Hemorrhagic Telangiectasia |
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Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor... |
ORPHA:774 |
Joubert Syndrome 6 |
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Hepatic fibrosis, Bile duct proliferation |
OMIM:610688 |
Fryns Syndrome |
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Joint contracture of the hand, Polysplenia, Cryptorchidism, Omphalocele, Camptodactyly, Ectopic p... |
OMIM:229850 |
Alkaptonuria |
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Tendon rupture, Black pigment gallstones, Thickened Achilles tendon |
ORPHA:56 |
Peutz-Jeghers Syndrome |
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Pancreatic adenocarcinoma, Biliary tract neoplasm, Abnormality of the gallbladder, Enlarged polyc... |
ORPHA:2869 |
Autosomal Recessive Polycystic Kidney Disease |
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Hepatic fibrosis, Periportal fibrosis, Cholestasis, Hepatosplenomegaly, Hypersplenism, Portal hyp... |
ORPHA:731 |
D-Bifunctional Protein Deficiency |
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Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Cholestasis, Hepa... |
OMIM:261515 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration, Bile d... |
OMIM:618329 |
Familial Adenomatous Polyposis |
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Abnormal cementum morphology, Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Biliary tract... |
ORPHA:733 |
Meckel Syndrome, Type 4 |
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Bile duct proliferation |
OMIM:611134 |
Cranioectodermal Dysplasia 2 |
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Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Poly... |
OMIM:613610 |
Peters-Plus Syndrome |
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Umbilical hernia, Diastasis recti, Cryptorchidism, Biliary tract abnormality, Bilobate gallbladder |
OMIM:261540 |
Pallister-Killian Syndrome |
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Camptodactyly of 2nd-5th fingers, Supernumerary nipple, Umbilical hernia, Congenital diaphragmati... |
OMIM:601803 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic cysts, Polyc... |
OMIM:208500 |
Metachromatic Leukodystrophy, Adult Form |
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Neoplasm of the gallbladder, Cholecystitis |
ORPHA:309271 |
Ring Chromosome 13 Syndrome |
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Hypoplasia of the gallbladder |
ORPHA:96176 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder |
ORPHA:500150 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... |
OMIM:203700 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Anterior pituitary hypoplasia, Limb hypertonia, Aplasia of the right hemidiaphragm, Cryptorchidism |
OMIM:619841 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Elevated circulating hepatic transaminase concentration, Decreased liver function, Cholestasis, P... |
OMIM:613658 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Elevated... |
OMIM:619525 |
Liver Disease, Severe Congenital |
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Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:619991 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Peritoneal abscess, Hepatitis, Hypoplasia of the thymus, Omphalocele, Abnormal ductus choledochus... |
ORPHA:436252 |
Meckel Syndrome, Type 1 |
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Malformation of the hepatic ductal plate, Accessory spleen, Camptodactyly of finger, Cryptorchidi... |
OMIM:249000 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Adrenal gland dysgenesis, Agenesis of the diaphragm, Omphalocele |
OMIM:236680 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Elevated circulating aspartate aminotransferase... |
OMIM:619534 |
Neurofibroma |
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Enlargement of parotid gland, Abnormal biliary tract morphology |
ORPHA:252183 |