Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... |
ORPHA:100025 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Split hand, Foot polydactyly, Phocomelia, Duodenal atresia |
ORPHA:3004 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... |
OMIM:618654 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... |
ORPHA:1802 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he... |
OMIM:243150 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Feingold Syndrome |
|
Hallux valgus, Brachydactyly, Toe syndactyly, Esophageal atresia, Abnormality of the spleen, Devi... |
ORPHA:1305 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... |
OMIM:619608 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Absent thumb, Hypoplasia of the radius, Po... |
OMIM:617784 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux |
OMIM:608971 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration, Ileitis |
OMIM:618287 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Intestinal atresia, Abnormal tricuspid valve morphology, Anemia, Duode... |
ORPHA:3405 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy... |
OMIM:601346 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, High palate, Ascites, Metaphyse... |
OMIM:269920 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Hepat... |
OMIM:616589 |
Congenital Contractural Arachnodactyly |
|
Arachnodactyly, Intestinal malrotation, Camptodactyly of finger, Flexion contracture, Tracheoesop... |
ORPHA:115 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Hypogonadism, Joint contracture |
OMIM:608540 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... |
ORPHA:79301 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... |
OMIM:615710 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis |
ORPHA:172 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Esophageal varix, Portal hypertension |
OMIM:617068 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left atr... |
OMIM:300280 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Increased variability in ... |
OMIM:617022 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Abnormal metaphysis morphology |
ORPHA:417 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Hypergonadotropic hypogonadism, Ventricular septal defect, Absent thumb, Esophag... |
OMIM:300514 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Absent thumb, Cryptorchidism, Short thumb,... |
OMIM:603467 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Cardiomyopa... |
OMIM:235200 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuol... |
OMIM:256550 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Cardiomegaly |
ORPHA:88643 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... |
OMIM:306955 |
Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Ventricular septal defect, Tricuspid stenosis, Asplenia, Esoph... |
OMIM:164280 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia |
OMIM:613313 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia |
ORPHA:858 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Portal vein thrombosis, Splenomegaly, Hypersplenism, Right atrial enla... |
OMIM:616028 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Hypospadias, Congenital diaphragmatic hernia, Cryp... |
ORPHA:2059 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... |
OMIM:121300 |
Roifman Syndrome |
|
Hepatomegaly, Noncompaction cardiomyopathy, Short metacarpal, Ventricular septal defect, Eosinoph... |
OMIM:616651 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal placement of ... |
OMIM:229850 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of the femurs, Thro... |
OMIM:610539 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Sandal gap, Splenomegaly, Ascites, Anemia |
ORPHA:1046 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Dextrocardia, Intestinal malrotation, Camptodactyly of finger, Duodenal stenosis, A... |
ORPHA:1759 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventric... |
ORPHA:210122 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy, Malabsorption |
ORPHA:42642 |
Feingold Syndrome Type 1 |
|
Toe syndactyly, Jejunal atresia, Tricuspid stenosis, Short middle phalanx of the 5th finger, Shor... |
ORPHA:391641 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Hepatic fibrosis, Talipes equinovarus, Hepat... |
OMIM:616719 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Thrombocyto... |
OMIM:613101 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly, Flexion contracture, Dysphagia |
ORPHA:77260 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Dilated cardiomyopathy, Azoospermia, C... |
OMIM:602390 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Inflammation of the large i... |
OMIM:300635 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenom... |
OMIM:615631 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Malabsorption, Tapered finger, Splenomegaly, Furrowed tongue,... |
ORPHA:2930 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Limb undergrowth, Abnormal limb bone morphology |
ORPHA:2204 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ... |
ORPHA:85451 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ... |
OMIM:619375 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Duodenal atresia |
ORPHA:1203 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Abnormal i... |
ORPHA:397596 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Hepatomegaly, Prominent fingertip pads, Splenomegaly, High palate, Clinodactyly of the 5th finger |
OMIM:615637 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma, Cardiomegaly |
OMIM:613576 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Thrombocytopenia, Cryptorchidism, Cholestasis, Perimembranous ventricular septal de... |
OMIM:608104 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... |
OMIM:602347 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis |
ORPHA:75234 |
Isolated Anencephaly |
|
Thymus hyperplasia, Congenital diaphragmatic hernia |
ORPHA:563609 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Arachnodactyly, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance... |
OMIM:619036 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Protruding tongue, Abnormal thumb morphology, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... |
ORPHA:263665 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Dextrocardia |
|
Meckel diverticulum, Congenital hip dislocation, Intestinal malrotation, Dextrocardia, Abnormal r... |
ORPHA:1666 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, High, narrow palate, Rectal prolapse, Adenomatous... |
ORPHA:79076 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Abnormal metacarpophalangeal joint morphology, Hypogonadotropic... |
ORPHA:465508 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidis... |
ORPHA:1655 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Hypospadias, Ventricular septal defect, Fractured radius, Cardiomegaly, Decreased fi... |
OMIM:616897 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Copper accumulation in liver, Hepatosplenome... |
OMIM:616828 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Abnormality of the palmar crea... |
OMIM:618652 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c... |
OMIM:265380 |
Cantu Syndrome |
|
Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga... |
OMIM:239850 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... |
ORPHA:64743 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... |
ORPHA:131 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology |
OMIM:613502 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Gastrointestinal ... |
OMIM:617798 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... |
ORPHA:158057 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... |
OMIM:235255 |
Stromme Syndrome |
|
Accessory spleen, Jejunal atresia, Intestinal malrotation, Preaxial polydactyly, Cleft palate, My... |
OMIM:243605 |
Serkal Syndrome |
|
Abnormal penis morphology, Ventricular septal defect, Hypospadias, Congenital diaphragmatic herni... |
ORPHA:139466 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Mulibrey Nanism |
|
Hepatomegaly, Single transverse palmar crease, Cardiomegaly, Myocardial fibrosis, Pericardial con... |
OMIM:253250 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis |
OMIM:619868 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph... |
OMIM:619463 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Intestinal malrotation, Splenomegaly, Abnormal fibula mo... |
ORPHA:3035 |
Alg6-Cdg |
|
Jaundice, Shortening of all distal phalanges of the fingers, Macroglossia, Abnormality of the liv... |
ORPHA:79320 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Abnormality of the spleen, Abnormal finger morphology, Gastroeso... |
ORPHA:2538 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hernia, Tetralogy of Fall... |
ORPHA:2847 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Ascites, Anemia |
ORPHA:75233 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... |
ORPHA:93476 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Atrial septal defe... |
OMIM:107480 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Intestinal ma... |
ORPHA:2308 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Splenomegaly, Cryptorchidism, Elbow flexion contracture, Macroglossia, Protein-losi... |
OMIM:618440 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Exercise-induced rhabdomyolysis, Cardiomegaly, Hepatocel... |
OMIM:201475 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaundice, Splenomegaly, Acholic sto... |
OMIM:607765 |
Distal Deletion 12Q |
|
Single transverse palmar crease, High, narrow palate, Biliary atresia, Aplasia/Hypoplasia of the ... |
ORPHA:96149 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Atrial septal defec... |
OMIM:274000 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Pyloric stenosis |
ORPHA:664 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopathy, Myopathy, Reduced m... |
OMIM:212140 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Rectal prolapse, Cutaneous finger syndactyly, Protein-losing enteropathy, Short palm, Hypoplastic... |
OMIM:235510 |
Joubert Syndrome 33 |
|
Splenomegaly, Syndactyly |
OMIM:617767 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Cleft palate, Ambiguous genitalia, EMG: myopathic abnormalities, Tetralogy o... |
ORPHA:280200 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
Miller-Dieker Lissencephaly Syndrome |
|
Single transverse palmar crease, Cryptorchidism, Cleft palate, Abnormal heart morphology, Deep pa... |
OMIM:247200 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Atrial septal defect, Hypospadias, Cryptorchidism, Embryonal rhabdomyosarcoma, Cle... |
OMIM:257300 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Coarse metaphyseal trabecularization, Toe syndactyly, Ventricular septal defec... |
ORPHA:2092 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Atrial septal defect, Vaginal neoplasm, Rhabdomyosarcoma, Cleft palate, Acu... |
ORPHA:1052 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Leukocytosis, Steatorrhea... |
ORPHA:2070 |
Refractory Celiac Disease |
|
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Increase... |
ORPHA:398063 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Cholestasis, C... |
OMIM:615630 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Single transver... |
OMIM:614114 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Ul... |
OMIM:228000 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Chylopericardium, Gastroesophageal reflux, Pulmonic stenosis, Ascites |
ORPHA:2414 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content |
OMIM:261750 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... |
ORPHA:615 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Splenomegaly, Enterocolitis, Anemia, Reduced natural killer cell c... |
OMIM:616050 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Hypospadias, Anterior pituitary hypoplasia, Ventricular septal def... |
ORPHA:464306 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Hematochezia, Clubbing of fingers, ... |
OMIM:175500 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... |
OMIM:615234 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Intestinal malrotation, Dextrocardia, Asplenia... |
OMIM:270100 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Cirrhosis, Fat malabsorption |
ORPHA:79302 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... |
ORPHA:309108 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc... |
OMIM:612714 |
Esophageal Atresia |
|
Barrett esophagus, Abnormal external genitalia, Intestinal malrotation, Ventricular septal defect... |
ORPHA:1199 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly... |
OMIM:618935 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, High pa... |
ORPHA:85212 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... |
OMIM:300048 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, ... |
OMIM:618892 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Single transverse palmar crease, Secundum atrial septal defect, Leukopenia, High palate, Hypoplas... |
OMIM:612541 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... |
OMIM:278000 |
Spondyloocular Syndrome |
|
Long toe, Unilateral cryptorchidism, Duodenal ulcer, Arachnodactyly, Femur fracture, Overlapping ... |
OMIM:605822 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen... |
OMIM:616100 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Mogs-Cdg |
|
Hepatomegaly, Atrial septal defect, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly... |
ORPHA:79330 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Cardiomyopathy, Protein-losing enteropathy, Abnormal h... |
ORPHA:79327 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Limited elbow movement, Cardiomegaly, ... |
ORPHA:268 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis, Delayed epiphyse... |
OMIM:613320 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Multiple joint contractures, Single transve... |
OMIM:618143 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoparathyroidism, Hypoplasia of t... |
ORPHA:231226 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Intestinal malrotation, Portal hypertens... |
OMIM:208540 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Atrial septal defect, Hypoplastic tricuspid valve, Double outlet left ventric... |
OMIM:600001 |
American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy, ... |
ORPHA:3386 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Shoulder dislocation, Atria... |
OMIM:245600 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Hypospadias, Single transve... |
ORPHA:93932 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Ulcerative colitis, Colitis, Decreased basophil count, Crohn's diseas... |
OMIM:618394 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Malabsorption, Steatorrhea, Short palm, Brachydactyly |
ORPHA:3217 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... |
OMIM:263300 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Abnormality of skeletal muscle fiber size, Polycystic ovaries, Skelet... |
ORPHA:2348 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Acholic ... |
OMIM:613812 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia |
OMIM:618107 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Ventricular septal defect, Ankle flexion contracture, Tapered finger, Cryptorchidism... |
ORPHA:464311 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal ste... |
ORPHA:2470 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Steatorrhea |
OMIM:235555 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Protein-losing enteropathy, Hepatic fibrosis, Cirrhosis, Steatorrh... |
OMIM:602579 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Splenomegaly, Abnormality of skeletal muscle fiber s... |
ORPHA:79083 |
Opsismodysplasia |
|
Hepatomegaly, Tapered finger, Splenomegaly, Squared iliac bones, Hypoplastic pubic bone, Abnormal... |
ORPHA:2746 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Micromelia, Postaxial hand polydactyly, Hyp... |
OMIM:200995 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Pyloric stenosis, Splenomegaly, Jaundice, Hepatitis, Ly... |
ORPHA:381 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Abnormal palm... |
OMIM:214800 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:615085 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Cat Eye Syndrome |
|
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Absent radius, ... |
OMIM:115470 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade... |
ORPHA:231214 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyopathy, Clinoda... |
ORPHA:158687 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Hepatic ste... |
ORPHA:42 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Cardiomegaly, Thenar mu... |
ORPHA:2463 |
Sialuria |
|
Hepatomegaly, Splenomegaly, 2-3 toe syndactyly, Macroglossia, High palate, Hypoplastic nipples, L... |
OMIM:269921 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Thrombocytopenia, Mi... |
OMIM:606003 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val... |
ORPHA:363705 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... |
OMIM:602450 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Cryptorchidis... |
ORPHA:2241 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Short palm, Patent foramen ovale, Hepatomegaly, Hamartoma o... |
OMIM:269860 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre... |
ORPHA:464329 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Autoim... |
OMIM:614162 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypogonadism, Arthrogryposis multiplex ... |
ORPHA:163746 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly |
OMIM:600649 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Proteus-Like Syndrome |
|
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland |
ORPHA:2969 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Abnormal heart valve morphology, Splenomegaly, Genu valgum, Macroglossia, A... |
ORPHA:583 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian cyst, Uterine ... |
OMIM:617100 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Peptic ... |
ORPHA:913 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly, Macroglossia |
OMIM:268800 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... |
ORPHA:231222 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Singl... |
ORPHA:264450 |
Tarp Syndrome |
|
Finger syndactyly, Extramedullary hematopoiesis, Single transverse palmar crease, Rocker bottom f... |
ORPHA:2886 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... |
OMIM:603909 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Myositis, Splenomegaly, Flexi... |
OMIM:619183 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune ... |
ORPHA:436159 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Gastroesophageal reflux, Cardiomegaly |
ORPHA:3137 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Hepatomegaly, Tapered toe, Cardiomegaly, Tapered finger, Long fingers, Dilated cardiomy... |
OMIM:608836 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
Down Syndrome |
|
Single transverse palmar crease, Short palm, Hypoplastic iliac wing, Atrial septal defect, Atriov... |
OMIM:190685 |
Fanconi Anemia |
|
Abnormal femur morphology, Leukopenia, Abnormality of the liver, High palate, Abnormality of the ... |
ORPHA:84 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... |
OMIM:613011 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Hypospadias, Ventricular septal defect, Cryptorchidism, Furrowed tongue, Hip dysplasi... |
OMIM:616975 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Abnormal erythrocyte enzy... |
ORPHA:264580 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Hip dysp... |
OMIM:618846 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Coxa ... |
OMIM:602557 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute... |
ORPHA:220460 |
Mcleod Syndrome |
|
Hepatomegaly, Acanthocytosis, Areflexia of upper limbs, Splenomegaly, Dilated cardiomyopathy, Rha... |
OMIM:300842 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly, Hip dysplasia, High palate |
OMIM:618798 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Metaphyseal widening, Hepatomegaly, Split hand, Flat acetabular roof, Flared iliac ... |
OMIM:252500 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Sézary Syndrome |
|
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, A... |
ORPHA:3162 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph... |
OMIM:619227 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Pancytopenia, Autoimmune hemoly... |
OMIM:614700 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepat... |
ORPHA:79319 |
Majeed Syndrome |
|
Hepatomegaly, Congenital hypoplastic anemia, Malabsorption, Splenomegaly, Leukocytosis, Flexion c... |
ORPHA:77297 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Short 5th metacarpal |
ORPHA:66518 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr... |
OMIM:300257 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Pyloric stenosis, Mediast... |
ORPHA:379 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Diastasis recti, Coxa valga, Splenomegaly, Long fingers,... |
OMIM:608149 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased muscle glycogen content, Macroglossia, Firm m... |
OMIM:232300 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Anteriorly placed anus, High palate, Atrial septal defect, Micropenis, Disloc... |
OMIM:617063 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Lymphadenitis, Leukocytosis, Splenomegaly, Dilated cardiom... |
OMIM:615895 |
Refsum Disease, Classic |
|
Cardiomyopathy, Short fourth metatarsal, Limb muscle weakness, Cardiomegaly |
OMIM:266500 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly |
OMIM:614702 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Tetralogy of Fallot, Patent forame... |
OMIM:601005 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, High,... |
ORPHA:3472 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate p... |
OMIM:224120 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis... |
ORPHA:251066 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy |
OMIM:618154 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Neonatal Lupus Erythematosus |
|
Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Di... |
ORPHA:398124 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum, Long penis |
OMIM:190440 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Abnormality of the tonsils, Malabsorption, Splenomegaly, Split h... |
ORPHA:579 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Pericardial effusion, Func... |
ORPHA:90362 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Dysphagia, Arthro... |
OMIM:608013 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Erlenmeye... |
OMIM:230800 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Short toe, Lymphadenopathy, Abnormal meta... |
ORPHA:39041 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg... |
ORPHA:1517 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, S... |
OMIM:618641 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Mediastinal lymphadenopathy, Clubbing |
OMIM:612387 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Pericarditis, Gastritis, Myositis, M... |
ORPHA:809 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminant ... |
ORPHA:2137 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Atrial septal defect, Gastritis, Bicuspid aortic valve, Increased ... |
ORPHA:84064 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Fetal ascites, Abnormal stomach morphology, Tracheoesophageal fistula,... |
ORPHA:141127 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peptic ulcer, Elevated circulating growth hormone conc... |
ORPHA:2796 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Abnormal heart valve morphology, Decreased palmar creases, Tapered finger,... |
ORPHA:2953 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Increased muscle lipid content, Abnormality o... |
ORPHA:565612 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis... |
ORPHA:829 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy |
ORPHA:85414 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Syndactyly, Hypospadias, Ventricular septal defect, Si... |
ORPHA:1708 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Limb-girdle muscle weakness, Rhabdomyolysis,... |
ORPHA:79240 |
Chylomicron Retention Disease |
|
Acanthocytosis, Increased hepatocellular lipid droplets, EMG: myopathic abnormalities, Myopathy, ... |
ORPHA:71 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... |
ORPHA:439 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Gastrointestinal dysmotility, Cardiomegaly, Dysphagia |
ORPHA:391428 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Multiple joint contractures, Hypospadias, Camptodactyly of finger, Ankle f... |
ORPHA:468631 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Abnormal morphology of the radius, Metaphyseal dysplasia, Skeletal muscle atrophy, ... |
ORPHA:1328 |
Vascular Hyalinosis |
|
Hematochezia, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Isolated Biliary Atresia |
|
Hepatomegaly, Hypopituitarism, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic ... |
ORPHA:30391 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hepatomegaly, Skeletal muscle atrophy, Hypoplastic scapulae, Camptodactyly of fing... |
OMIM:256040 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy... |
OMIM:614921 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Increased variability in muscle fiber di... |
OMIM:611881 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestasis, Abnormal... |
ORPHA:79303 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Centrally nucleated skeletal muscle fibers, Pyloric stenosis, Splenomegaly, Ileus, ... |
OMIM:613327 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Perimembranous ventricular sep... |
OMIM:611376 |
Caroli Disease |
|
Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Simpson-Golabi-Behmel Syndrome |
|
Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic hernia, High, narrow pa... |
ORPHA:373 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Cardiomegaly, Glandular hypospadias, Talipes equinovarus, Short tibia, Limb hypertonia |
OMIM:620306 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Bilateral cryptorchidism, Pyloric stenosis, Abdominal adhesions, Neutropenia, Meckel... |
OMIM:616395 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Prominent interphalangeal joint... |
OMIM:135900 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Myopathy, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content |
OMIM:613027 |
Whim Syndrome |
|
Abnormal small intestine morphology, Lymphadenitis, Abnormal neutrophil morphology, Tetralogy of ... |
ORPHA:51636 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Narrow greater sciatic notch, Short palm, Atrial septal defect, ... |
OMIM:312870 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... |
ORPHA:731 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Follicular hyp... |
OMIM:619381 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Pericarditis, Myositis, Orchitis, Splenomegaly, Leukocytosis, Peritonitis... |
ORPHA:32960 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Coxa valga, Splenomegaly, Vacuolated lymphocytes, Flexion contracture... |
OMIM:230000 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic pol... |
ORPHA:79665 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial effusion, ... |
ORPHA:77259 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, ... |
ORPHA:567983 |
Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Asplenia, Ambiguous genitalia, female, Lobulated tongue, Ambiguous g... |
OMIM:249000 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Myositis, Splenomegaly, Flexion contracture, Lymphadenopathy, Anemia, Finger swelli... |
OMIM:617591 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... |
ORPHA:822 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Adenoiditis, Malabsorption, Cardiomegaly, Splenomegaly, Recurrent tonsillitis, Avas... |
ORPHA:581 |
Abetalipoproteinemia |
|
Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocytosis, Myopathy, Hepatic fibrosis, Talipes ... |
ORPHA:14 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Esophageal varix,... |
OMIM:263200 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Duodenal polyposis, Pancreatic adenocarcinoma, Stomach cancer, Goiter, Pituit... |
ORPHA:733 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, Gastrointestinal dysmotili... |
OMIM:270400 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hepatic steatosis, Cardiomegaly |
OMIM:255120 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Mednik Syndrome |
|
Jejunal atresia, Cholestasis, Hepatic fibrosis, Cirrhosis, Volvulus, Microcolon |
OMIM:609313 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... |
ORPHA:57777 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocy... |
ORPHA:3260 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Peptic ulcer, Eosinophilia... |
ORPHA:98849 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Atrial septal defect, Ventricular septal defect, Left ventricular noncompaction ca... |
OMIM:300967 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Diastasis recti, Cardiomegaly, Cryptorchidism, Pa... |
OMIM:130650 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma... |
ORPHA:247806 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Bohring-Opitz Syndrome |
|
Ulnar deviation of the wrist, Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture... |
ORPHA:97297 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:620296 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Aplasia/Hypoplasia of the thumb, Hypospadias, Cryptorchidism... |
OMIM:219000 |
Menke-Hennekam Syndrome 2 |
|
Overlapping toe, Cutaneous syndactyly of toes, Duodenal ulcer, Sandal gap |
OMIM:618333 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Abnormality of neutrophils, Malabsor... |
ORPHA:1775 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of the gallbla... |
ORPHA:171 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Villous atrophy, Hypospadias, Ventricular septal defect, Increased mean platelet vo... |
OMIM:222470 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Anemia, Metaphyseal irregula... |
OMIM:239200 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged neonatal ja... |
OMIM:214950 |
Proteus Syndrome |
|
Decreased muscle mass, Neoplasm of the thymus, Abnormal finger morphology, Clinodactyly of the 5t... |
ORPHA:744 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Submucous cleft hard palate, Cleft palate, Gastroesophageal reflux, Hy... |
OMIM:301043 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-Ellison synd... |
ORPHA:652 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
Abetalipoproteinemia |
|
Fat malabsorption, Acanthocytosis |
OMIM:200100 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Skeletal muscle atrophy, Splenomegaly, Ja... |
OMIM:615512 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Familial Mediterranean Fever |
|
Intestinal obstruction, Pericarditis, Malabsorption, Orchitis, Splenomegaly, Peritonitis, Pancrea... |
ORPHA:342 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S... |
ORPHA:116 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Dysphagia, Megaduodenum, Micr... |
OMIM:155310 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventricular septal defect, Microvesicular hepatic steatosis, Sple... |
OMIM:619418 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Hydrometrocolpos, ... |
OMIM:617088 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Hypertr... |
ORPHA:308552 |
Elliptocytosis 1 |
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Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Cog8-Cdg |
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Skeletal muscle atrophy, Protein-losing enteropathy |
ORPHA:95428 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomyopathy, Limb muscle weakness, Increased hepatic glycogen content, Cardiomegaly |
OMIM:619259 |
Acute Panmyelosis With Myelofibrosis |
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Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Ogden Syndrome |
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Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M... |
OMIM:300855 |
Genitopatellar Syndrome |
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Small scrotum, Congenital hip dislocation, Hypoplastic ischia, Knee flexion contracture, Anterior... |
OMIM:606170 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Esophageal var... |
ORPHA:309854 |
Iniencephaly |
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Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Talipes equinovarus, Arthrogrypo... |
ORPHA:63259 |
Wolf-Hirschhorn Syndrome |
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Decreased muscle mass, Single transverse palmar crease, Gastroesophageal reflux, Atrial septal de... |
OMIM:194190 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... |
OMIM:619991 |
Tremor, Nystagmus, And Duodenal Ulcer |
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Duodenal ulcer |
OMIM:190310 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Hyperlipoproteinemia, Type Id |
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Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Hypoplasminogenemia |
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Cervicitis, Duodenal ulcer, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
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Microcolon, Intestinal malrotation, Portal hypertension |
OMIM:619431 |
Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Congenital Enterocyte Heparan Sulfate Deficiency |
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Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol... |
OMIM:610199 |
Hennekam Syndrome |
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Lymphopenia, Finger syndactyly, Camptodactyly of finger, Malabsorption, Pericardial effusion, Pyl... |
ORPHA:2136 |
Reynolds Syndrome |
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Gastrointestinal hemorrhage, Hepatomegaly, Calcinosis, Splenomegaly, Jaundice, Biliary cirrhosis,... |
OMIM:613471 |
Scedosporiosis |
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Pericarditis, Abnormal jejunum morphology, Endocarditis |
ORPHA:449280 |
Lymphatic Malformation 6 |
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Splenomegaly, Hydrocele testis, Gastroesophageal reflux, Atrial septal defect, Intestinal lymphan... |
OMIM:616843 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Arachnodactyly, Intestinal malrotation, Diastasis recti, Hiatus hernia, Cryptorchidism, Cleft pal... |
OMIM:601776 |
Complete Atrioventricular Septal Defect |
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Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Labial hypertrophy, Gene... |
OMIM:269700 |
Chylomicron Retention Disease |
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Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Pericardial effusion, Cryptorchidism, Hematochezia, Protein-losing enteropathy, Ascites |
OMIM:618183 |
Myelofibrosis |
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Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Glycogen Storage Disease Ib |
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Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Inflammation of the la... |
OMIM:232220 |
Familial Mediterranean Fever |
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Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Croh... |
OMIM:249100 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy, Generalized muscular appearan... |
OMIM:608594 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
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Duodenal polyposis, Single transverse palmar crease, Adenomatous colonic polyposis, Desmoid tumor... |
ORPHA:261584 |
Common Variable Immunodeficiency |
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Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph... |
ORPHA:1572 |
Zygomycosis |
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Gastrointestinal hemorrhage, Pericarditis, Gastritis, Hematemesis, Mediastinal lymphadenopathy, P... |
ORPHA:73263 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hepatomegaly, Cardiomegaly, High, narrow palate, Hepatic calcification, Cardiomyopathy, Abnormal ... |
ORPHA:228308 |
Brucellosis |
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Abnormality of the gastrointestinal tract, Hepatomegaly, Pericarditis, Liver abscess, Hyperspleni... |
ORPHA:1304 |
Aorta Coarctation |
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Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Villous atrophy, Duodenitis |
OMIM:614328 |
Congenital Tracheomalacia |
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Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r... |
ORPHA:95430 |
Familial Aortic Dissection |
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Cardiomegaly |
ORPHA:229 |
Tyrosinemia, Type I |
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Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Paralytic ileus, Melena, Hypertrophic ca... |
OMIM:276700 |
Okamoto Syndrome |
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Exaggerated median tongue furrow, Anal stenosis, Ventricular septal defect, Intestinal malrotatio... |
ORPHA:2729 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Hallux valgus, Pancytopenia, Mitral valve calcification, Abnormality of the spleen, Thrombocytope... |
ORPHA:2072 |
Granulomatous Disease, Chronic, X-Linked |
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Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Intestinal polyposis, Skeletal muscle atrophy, Abnormal large intestine morphology, Narrow palate... |
ORPHA:109 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Cardiomegaly, Fl... |
ORPHA:365 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
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Splenomegaly, Sandal gap, Macrodactyly |
OMIM:612918 |
Arterial Calcification, Generalized, Of Infancy, 2 |
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Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Sarcoidosis, Susceptibility To, 1 |
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Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lympha... |
OMIM:181000 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic... |
OMIM:182250 |
Metachromatic Leukodystrophy |
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Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobi... |
ORPHA:512 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Porphyria, Congenital Erythropoietic |
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Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Increased fecal coproporphyrin 1, Choleli... |
OMIM:263700 |
Kikuchi-Fujimoto Disease |
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Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Thrombocyto... |
ORPHA:50918 |
Aicardi-Goutières Syndrome |
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Myositis, Multiple joint contractures, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepato... |
ORPHA:51 |
Williams Syndrome |
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Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Rectal prolapse, Gastroesophageal reflu... |
ORPHA:904 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Calf muscle pseudohypertrophy, Acanthocytosis, Abnormal erythrocyte morphology, Limb-girdle muscu... |
ORPHA:96180 |
Familial Adenomatous Polyposis 1 |
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Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small... |
OMIM:175100 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Polycystic ovaries |
ORPHA:137675 |
Restrictive Dermopathy |
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Multiple joint contractures, Hypospadias, Dextrocardia, Camptodactyly of finger, Aplasia/Hypoplas... |
ORPHA:1662 |
Johanson-Blizzard Syndrome |
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Single transverse palmar crease, Anteriorly placed anus, Hepatic fibrosis, Atrial septal defect, ... |
OMIM:243800 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Apolipoprotein C-Ii Deficiency |
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Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Plasminogen Deficiency, Type I |
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Duodenal ulcer |
OMIM:217090 |
Absence Of The Pulmonary Artery |
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Abnormal hemidiaphragm morphology, Cardiomegaly, Abnormal heart morphology, Abnormal cardiac sept... |
ORPHA:980 |
Ectodermal Dysplasia And Immunodeficiency 2 |
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Splenomegaly, Hepatomegaly, Recurrent infection of the gastrointestinal tract, Aplasia of the swe... |
OMIM:612132 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Peritonitis, Microcolon, Ileal atresia |
OMIM:619351 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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High, narrow palate, Arachnodactyly, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... |
ORPHA:1677 |
Hyperlipoproteinemia, Type I |
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Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... |
ORPHA:75565 |
Meconium Ileus |
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Microcolon, Meconium ileus |
OMIM:614665 |
Microvillus Inclusion Disease |
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Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Aspartylglucosaminuria |
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Hepatomegaly, Abnormal morphology of ulna, Malabsorption, Splenomegaly, Macroglossia, Macroorchidism |
ORPHA:93 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Viss Syndrome |
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Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage... |
OMIM:619472 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Microcolon |
OMIM:619362 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Hepatic calcification, Myocardial ca... |
ORPHA:51608 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Cardiomegaly |
ORPHA:79280 |