Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Abnormality of the liver, Endocardial fibrosis |
OMIM:235550 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79281 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Anemia, Hypogonadism, Elevated hepatic transaminase, Hepatomegaly, S... |
OMIM:613313 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:619874 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Hepatomegaly, Eosi... |
OMIM:607685 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
8p23.1 deletion syndrome |
|
Hyperactivity, Cryptorchidism |
DECIPHER:39 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit... |
ORPHA:543 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Azoospermia, Dilated cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Sple... |
OMIM:602390 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... |
OMIM:269600 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar... |
OMIM:620010 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hypogonadism, Splenomegaly, Hepatomegaly, Cardiomyopathy |
OMIM:608540 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel... |
OMIM:602450 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... |
ORPHA:79301 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly |
OMIM:617068 |
Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:605911 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Elevated hepatic transaminase, Decreased proportion of CD4-positive T cells, Hepatic st... |
OMIM:301045 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... |
OMIM:616217 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... |
OMIM:619126 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... |
ORPHA:52901 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated... |
OMIM:619658 |
Galactose Epimerase Deficiency |
|
Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Diabetes mellitus, Ascites, Sp... |
OMIM:271500 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
Hemochromatosis, Type 1 |
|
Cirrhosis, Impotence, Hepatocellular carcinoma, Elevated hepatic transaminase, Azoospermia, Testi... |
OMIM:235200 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... |
OMIM:602347 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly |
OMIM:611721 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Acholic stools, Portal fib... |
OMIM:619868 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... |
OMIM:616278 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegal... |
OMIM:615234 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Ventricular septal defec... |
OMIM:614876 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... |
OMIM:603552 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Abnormality of the liver, Hepatomegaly |
ORPHA:1980 |
Beta-Thalassemia |
|
Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Hypogonadotropic hy... |
ORPHA:848 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg... |
OMIM:214900 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100024 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomegaly |
ORPHA:79084 |
Galactosemia Iii |
|
Jaundice, Splenomegaly, Hepatomegaly |
OMIM:230350 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... |
ORPHA:1916 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... |
OMIM:616860 |
Alpha-Thalassemia |
|
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... |
ORPHA:846 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:100025 |
Sandhoff Disease |
|
Splenomegaly, Hepatomegaly |
ORPHA:796 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... |
OMIM:617394 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy, Dysphagia |
OMIM:313200 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... |
OMIM:614470 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Neoplasm of the pancreas, Abnormality of the peritoneum, Lymphadenopathy, Hepatomegaly, M... |
ORPHA:83469 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
ORPHA:172 |
Isolated Splenogonadal Fusion |
|
Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Polysplenia, Bilater... |
ORPHA:457083 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Chol... |
OMIM:616828 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:98293 |
Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus |
ORPHA:481 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Abnormal testis morphology, ... |
ORPHA:54251 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Micropenis, Hepatomegaly, Cryptorchidism |
OMIM:613861 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Abnormal heart valve morphology, Cardiomy... |
ORPHA:93476 |
Congenital Toxoplasmosis |
|
Anemia, Ascites, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hepatomegaly, Cardiome... |
ORPHA:858 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:615158 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hepatomegaly, Ascites, Abnormal vagina morphology |
ORPHA:2123 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:228312 |
Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:75234 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
Transaldolase Deficiency |
|
Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Anemia, Ventricular septal defect, Pancytopeni... |
OMIM:606003 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Abnormal internal genitalia, Aplasia of the uterus, Elevated circulatin... |
OMIM:273250 |
Follicular Lymphoma |
|
Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum, Mediastinal lymphadenopathy |
ORPHA:545 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615010 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cirrhosis, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Hypoplasia of penis, Hypospadias, Ascites, Splenomegaly |
ORPHA:1046 |
Leydig Cell Hypoplasia |
|
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... |
ORPHA:755 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:42642 |
Glycogen Storage Disease Vi |
|
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly |
OMIM:232700 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Elevated circulating alanine aminotransferase concentration, Generalized ... |
OMIM:615559 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... |
OMIM:617514 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... |
OMIM:619463 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatiti... |
OMIM:613812 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect, Hepatomegaly, Cryptorchidism |
OMIM:613730 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Cirrhosis, Hepatocellular carcinoma, Splenomegaly |
OMIM:613490 |
Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Portal vein hypoplasia, Portal artery hyperplasia, Hepatomegaly, Asci... |
OMIM:619433 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Splenomegaly, Hepatomegaly |
OMIM:261750 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly |
OMIM:618107 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... |
OMIM:613027 |
Coproporphyria, Hereditary |
|
Jaundice, Splenomegaly, Hepatomegaly |
OMIM:121300 |
Cystic Echinococcosis |
|
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Cholestatic live... |
ORPHA:400 |
Biliary Atresia, Extrahepatic |
|
Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Jaundice, Elevated hepatic tra... |
OMIM:210500 |
Dysplastic Cortical Hyperostosis |
|
Splenomegaly, Hepatomegaly |
ORPHA:2204 |
Cyanosis, Transient Neonatal |
|
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia |
OMIM:613977 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... |
OMIM:612840 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly |
ORPHA:77260 |
Morm Syndrome |
|
Hyperactivity, Micropenis |
ORPHA:75858 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Impulsivity, Hyperactivity, Macroorchidism |
OMIM:300143 |
46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Pancytopenia, He... |
OMIM:617872 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Portal fibr... |
ORPHA:369 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, ... |
OMIM:610333 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... |
ORPHA:98848 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly |
OMIM:613101 |
Schnitzler Syndrome |
|
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly |
ORPHA:37748 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... |
OMIM:618534 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Lymphadenopathy, Hepatomeg... |
OMIM:609981 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Malformation of the hepatic duct... |
OMIM:615415 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:618495 |
46,Xy Sex Reversal 10 |
|
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... |
OMIM:616425 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly |
OMIM:240500 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic anemia, Decrea... |
OMIM:266200 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Cirrhosis, Abnormality of the liver, Decreased liver function, Hypogonadism, Incr... |
ORPHA:231222 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Hepatic fibrosis, Cirrhosis, Anemia, Periportal fibrosis, Increased hepatic echogenic... |
OMIM:278000 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... |
OMIM:601847 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... |
OMIM:300853 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:59303 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Portal ... |
ORPHA:370 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatic failure, Prostate canc... |
ORPHA:158057 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:612526 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia |
ORPHA:482 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Infertility, Cholangiocarcinoma, Hepatocellular carcinoma, Erectile dy... |
ORPHA:465508 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Nonspherocytic hemolyt... |
OMIM:235700 |
African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos... |
ORPHA:139507 |
Meacham Syndrome |
|
Abnormal fallopian tube morphology, Ambiguous genitalia, Conotruncal defect, Ventricular septal d... |
ORPHA:3097 |
Cardiac-Urogenital Syndrome |
|
Ambiguous genitalia, Cor triatrium sinister, Pericardial effusion, Biventricular hypertrophy, Uni... |
OMIM:618280 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Pancytopenia, Hemophagocytosis, Hepatomegaly, Aplastic anemia, Splenomegaly |
OMIM:300635 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas... |
OMIM:615122 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology |
ORPHA:2584 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... |
OMIM:616689 |
Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy, Hemolytic anemia, Hepatomegaly |
ORPHA:56425 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Left ventri... |
OMIM:619048 |
47,Xyy Syndrome |
|
Macroorchidism, Hyperactivity, Increased serum testosterone level, Azoospermia, Oligospermia, Imp... |
ORPHA:8 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly... |
OMIM:208540 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... |
OMIM:211600 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615085 |
X-Linked Sideroblastic Anemia |
|
Anemia, Elevated hepatic transaminase, Splenomegaly |
ORPHA:75563 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly |
OMIM:269920 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... |
OMIM:209950 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:85414 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... |
OMIM:607765 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... |
OMIM:615387 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatic fibrosis, Elevated hepatic transaminase, Hepatomegaly, Cardiomyo... |
OMIM:232400 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism, Dysphagia |
OMIM:160900 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly,... |
OMIM:235555 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... |
OMIM:613470 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Splenomegaly, Hepatomegaly |
OMIM:306000 |
Hepatic Veno-Occlusive Disease |
|
Ascites, Jaundice, Elevated hepatic transaminase, Hepatomegaly |
ORPHA:890 |
Klatskin Tumor |
|
Extrahepatic cholestasis, Jaundice, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly |
ORPHA:99978 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly |
OMIM:185000 |
Sickle Cell Disease |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Jaundice, Splenic infarction, Leuko... |
OMIM:603903 |
Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Chylopericardium, Hepatomegaly, Ascites, Pulmonic stenosis |
ORPHA:2414 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly |
OMIM:613489 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... |
OMIM:194380 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Cholestasis, Hepatomegaly |
ORPHA:570422 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Increased circulatin... |
ORPHA:168563 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Hepatic failure, Jaundice, Hepatomegaly |
ORPHA:60 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis, Hepatomegaly |
OMIM:618528 |
Mulibrey Nanism |
|
Hepatomegaly |
ORPHA:2576 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Hepatic failure, Ventricular septal defect, Pulmonary lymphan... |
ORPHA:1655 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... |
OMIM:607594 |
Griscelli Syndrome Type 2 |
|
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly |
ORPHA:79477 |
Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Elevated hepatic transaminase, Pancytopenia, ... |
ORPHA:507 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... |
OMIM:613011 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly |
OMIM:618892 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis |
OMIM:182900 |
Neonatal Lupus Erythematosus |
|
Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati... |
ORPHA:398124 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Elevated circulating alanine aminotransferase concentration, Hemolytic anemia, Coombs-p... |
OMIM:614034 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Jaundice,... |
ORPHA:276 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:231000 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum... |
ORPHA:85327 |
Primary Lipodystrophy |
|
Cirrhosis, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Cardiomyopathy |
ORPHA:90970 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Abnormal abdomen morphology, Increased circulating free T3, Decreased thyroid-stim... |
OMIM:275000 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomy... |
OMIM:617713 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly, Cardiomyopathy |
ORPHA:79312 |
Budd-Chiari Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Portal hypertens... |
ORPHA:131 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Aplasia/Hypo... |
ORPHA:99429 |
Bile Acid Conjugation Defect 1 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ... |
OMIM:619232 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Fulminant hepatitis, Jaundice, Elevated hepatic transaminase, Hepatomegaly |
OMIM:618549 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatic failure, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytope... |
OMIM:308240 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly |
ORPHA:391 |
Infantile Liver Failure Syndrome 3 |
|
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi... |
OMIM:618641 |
Ovarian Dysgenesis 6 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:618078 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Truncus arteriosus, Ventricular septal defect, Portal hypertension, Splenomegaly |
OMIM:616589 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... |
ORPHA:2585 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Anemia, Hepatic steatosis, Hepatomegaly, Cardiomyopathy |
OMIM:606069 |
Adult-Onset Still Disease |
|
Hepatitis, Neutrophilia, Elevated hepatic transaminase, Generalized lymphadenopathy, Pericarditis... |
ORPHA:829 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal aortic valve morphology, Hypertrophic cardiomyopathy, Hypospadias, Abnormal pulmonary va... |
ORPHA:1194 |
Fragile X Syndrome |
|
Congenital macroorchidism, Hyperactivity, Macroorchidism, postpubertal |
OMIM:300624 |
Neuraminidase Deficiency |
|
Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly... |
OMIM:256550 |
Wolman Disease |
|
Hepatic failure, Anemia, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:75233 |
Pleural Mesothelioma |
|
Lymphadenopathy, Hepatomegaly |
ORPHA:50251 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Scleros... |
OMIM:619662 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequate production, Splen... |
OMIM:612714 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, Elevated cir... |
OMIM:257200 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Macrovesicular... |
OMIM:600649 |
Congenital Rubella Syndrome |
|
Anemia, Ventricular septal defect, Jaundice, Atrial septal defect, Hepatomegaly, Thrombocytopenia... |
ORPHA:290 |
Propionic Acidemia |
|
Hepatomegaly, Cardiomyopathy |
ORPHA:35 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevated circulating follicle... |
OMIM:612964 |
Galactosemia I |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hemolytic anemia, Elevate... |
OMIM:230400 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Hypopl... |
OMIM:619151 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Hepatic steatosis, Hypertrophic cardiomyopathy, Polycystic ovaries, Hepatomegaly, P... |
ORPHA:2348 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatomegaly, Myeloproli... |
ORPHA:3226 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... |
ORPHA:90797 |
Caroli Disease |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Elevated circulating alanine... |
ORPHA:53035 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism... |
OMIM:614841 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Splenomegaly |
ORPHA:664 |
Primary Myelofibrosis |
|
Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphaden... |
ORPHA:824 |
Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252920 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Intrahepatic biliary atresia, Hepatic fibrosis, Hepatic failure, Sclerosing cholangitis, Jaundice... |
OMIM:607626 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Splenomegaly, Hepatic steatosis, Hypertrophic cardiomyopathy, Polycystic ovaries, Hepa... |
ORPHA:79083 |
Griscelli Syndrome |
|
Leukopenia, Hepatitis, Jaundice, Abnormality of neutrophils, Lymphadenopathy, Bone marrow hypocel... |
ORPHA:381 |
Wilson Disease |
|
Cirrhosis, Anemia, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Acute h... |
ORPHA:905 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... |
OMIM:603909 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatic cysts, Hepatomegaly |
OMIM:617004 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Jaundice, Cholelithiasis, Hepatomegaly, Intrahepatic cholestasis |
OMIM:605479 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Splenomegaly, Leukocytosis |
OMIM:611762 |
Lig4 Syndrome |
|
Hypoplasia of penis, Pancytopenia, Lymphadenopathy, Cryptorchidism, Leukocytosis, Hepatomegaly, A... |
ORPHA:99812 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt... |
OMIM:300400 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic failure, Hepatic fibrosis, Ventricular septal defect, Cholestasis, Hepatomegaly, Splenome... |
OMIM:615630 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... |
OMIM:301078 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Hypogonadism, Erythroid hypoplasia, Testicular atrophy, Pure red cell aplasia |
OMIM:618165 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... |
ORPHA:567983 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Hepatic stea... |
OMIM:618805 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Elevated circulating alanine aminotransferase concent... |
ORPHA:158061 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Anemia, Abnormal erythrocyte enzyme level, Elevated hepatic transami... |
ORPHA:264580 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Triploidy |
|
Ambiguous genitalia, Abnormality of the pancreas, Abnormal cardiac septum morphology, Abnormality... |
ORPHA:3376 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopathy, Hepatosplenome... |
ORPHA:367 |
Macrocephaly/Autism Syndrome |
|
Hydrocele testis, Lymphopenia, Penile freckling, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... |
OMIM:603554 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Polycystic ovaries, Hepatomegaly |
ORPHA:79085 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... |
OMIM:226990 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... |
OMIM:614837 |
Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:100026 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Anemia, Perimembranous ventricular septal defect, Cholestasis, Hepatomegaly, Cryptorchidism, Decr... |
OMIM:608104 |
Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Hepat... |
OMIM:615381 |
Agammaglobulinemia, X-Linked |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Prostatitis, Enteroviral hepatitis, Hepatocellular ... |
OMIM:300755 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic necrosis, Hepatic fibrosis, Portal vein thrombosis, Hepatomegaly |
ORPHA:33402 |
Dubin-Johnson Syndrome |
|
Jaundice, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly |
ORPHA:234 |
American Trypanosomiasis |
|
Lymphadenopathy, Hepatomegaly, Myocarditis, Splenomegaly, Cardiomyopathy |
ORPHA:3386 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Cirrhosis, Hepatic steatosis, Hypertrophic cardiomyopathy, Polycys... |
ORPHA:528 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:619183 |
Overhydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Testicular atroph... |
OMIM:222300 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:300510 |
Fetal Gaucher Disease |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Abnormality of the spleen, Splenomegaly |
ORPHA:85212 |
Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spontaneous hemolytic crises, ... |
ORPHA:822 |
Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Hydrocele testis, Anteriorly displaced urethral meatus |
OMIM:266810 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Jaundice, Elevated hepatic transaminase, Ach... |
ORPHA:30391 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Hepatomegaly |
OMIM:243300 |
Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Abnormal tricuspid valve morphology, Hepatomegaly |
ORPHA:1759 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Retroperitoneal fibrosis, Ventricular septal defect, Decreased response to... |
OMIM:602782 |
Vaginal Atresia |
|
Imperforate hymen, Pelvic mass, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, C... |
ORPHA:65681 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatic failure, Ventricular septal defect, Thyroid lymphangiectasia, Pulmonary lymphangiectasia,... |
OMIM:235255 |
Galactokinase Deficiency |
|
Hypergonadotropic hypogonadism, Hepatomegaly, Hepatosplenomegaly |
ORPHA:79237 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myofiber disarray, Restrictive cardiomyopathy, Dilated cardiomyopathy, Myocardial fibrosis, Hyper... |
OMIM:619424 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Patent foramen ovale, Elevated circulating alanine aminotransferase concentration, Elevated circu... |
OMIM:614582 |
Gaucher Disease Type 1 |
|
Leukopenia, Cirrhosis, Anemia, Pericardial effusion, Hypersplenism, Pancytopenia, Biliary tract o... |
ORPHA:77259 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Farber Lipogranulomatosis |
|
Splenomegaly, Hepatomegaly, Lipogranulomatosis |
OMIM:228000 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hypoplasia of the thymus, Jaundice, Intrahepatic biliary dysgenesis, Abnormal heart morphology, H... |
OMIM:214110 |
46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomegaly |
ORPHA:435651 |
Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Ventricular septal defect, Bicornuate uterus, Hypoplastic left atrium, Multil... |
OMIM:601186 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... |
OMIM:231005 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Sézary Syndrome |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology |
ORPHA:3162 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopenia, Autoimm... |
OMIM:613179 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased testicular size, Hypogonadism, Splenomegaly, Hepatomegaly |
OMIM:201100 |
Meckel Syndrome, Type 3 |
|
Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly |
OMIM:607361 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Elliptocytosis 1 |
|
Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia |
OMIM:611804 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
Caroli Syndrome |
|
Leukopenia, Cirrhosis, Hepatic failure, Periportal fibrosis, Liver abscess, Hypersplenism, Jaundi... |
ORPHA:480520 |
Perrault Syndrome 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:614129 |
Cryoglobulinemic Vasculitis |
|
Abnormality of the liver, Viral hepatitis, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:91138 |
Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Congenital hypothyroidism |
OMIM:614613 |
Gaucher Disease, Type I |
|
Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Aortic valve stenosis, Thrombocytopenia, Splen... |
OMIM:230800 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypertrophic cardiomyopathy, Micropenis, Hydrocele testis, Hepatomegaly |
OMIM:618810 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Ovarian Dysgenesis 5 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:617690 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Anemia, Primary testicular failure, Abnormal testis morphology, H... |
ORPHA:85450 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg... |
OMIM:616100 |
Adams-Oliver Syndrome 5 |
|
Patent foramen ovale, Splenomegaly, Hypersplenism, Pulmonic stenosis, Portal vein thrombosis, Rig... |
OMIM:616028 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly, Myeloproliferative disord... |
ORPHA:79456 |
Felty Syndrome |
|
Anemia, Pericarditis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopeni... |
ORPHA:47612 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Increased circulat... |
ORPHA:525731 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Anemia, Hepatocellular carcinoma, Elevated hepatic transaminase, Pol... |
ORPHA:79240 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva... |
OMIM:255120 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Cirrhosis, Hypersplenism, Anisopoikilocytosis, Reduced hemoglobin A, Hepatocell... |
ORPHA:231214 |
Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... |
ORPHA:3202 |
Tangier Disease |
|
Left ventricular hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:205400 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the vagina, Aplasia of the fallopi... |
OMIM:158330 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Hepatic fibrosis, Anemia, Elevated hepatic transaminase, Dilated cardiomyopathy, L... |
OMIM:615895 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Hypopituitarism, Hypersplenism, Reduced hemoglobin A, Jaundice, Hepa... |
ORPHA:231226 |
Aarskog-Scott Syndrome |
|
Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a... |
OMIM:305400 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Mcleod Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Elevated cir... |
OMIM:300842 |
Omenn Syndrome |
|
Anemia, Lymphadenopathy, Eosinophilia, Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal lymphoc... |
ORPHA:39041 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypogonadism, Mitral valve prolapse, Hypoplasia of penis, Azoospermia, Atrial s... |
ORPHA:251066 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Hemolytic anemia, Lymphopenia, Hepatosplenomegaly, Acute pancreatitis, Lymphadenop... |
OMIM:618935 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... |
ORPHA:860 |
Mucopolysaccharidosis, Type Iiia |
|
Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252900 |
Juvenile Idiopathic Arthritis |
|
Pericardial effusion, Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:92 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Shawl scrotum, Pineal cyst, Hypospadias, Cryptorchidism, Micropenis |
OMIM:617516 |
Premature Ovarian Failure 13 |
|
Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus |
OMIM:617442 |
Perrault Syndrome 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Polycystic ovaries, Abnormal labia majora morphology, Hepatomegaly |
ORPHA:435660 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Splenomegaly, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaun... |
ORPHA:288 |
Premature Ovarian Failure 6 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimu... |
OMIM:612310 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... |
OMIM:619665 |
Sarcoidosis, Susceptibility To, 2 |
|
Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:612387 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Hepatomegaly, C... |
OMIM:308230 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... |
OMIM:278850 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... |
OMIM:619203 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased proportion of CD3-positive T cells, ... |
ORPHA:331206 |
Oculoskeletodental Syndrome |
|
Splenomegaly, Hepatomegaly, Cryptorchidism |
OMIM:618440 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Enlarged kidney, Hepatomegaly, Hepatic c... |
OMIM:263200 |
Mogs-Cdg |
|
External genital hypoplasia, Left ventricular hypertrophy, Hydrocele testis, Atrial septal defect... |
ORPHA:79330 |
Autoimmune Hepatitis |
|
Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steatosis, Hepatocellular... |
ORPHA:2137 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Ascites, Jaundice, Elevated hepati... |
ORPHA:79124 |
Q Fever |
|
Endocarditis, Anemia, Abnormality of the liver, Hepatitis, Pericardial effusion, Elevated hepatic... |
ORPHA:781 |
Immunodeficiency 47 |
|
Leukopenia, Hepatic fibrosis, Cirrhosis, Elevated circulating alanine aminotransferase concentrat... |
OMIM:300972 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anis... |
OMIM:300908 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hemophagocytosis, Hepatomegaly,... |
ORPHA:540 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Pulmonic stenosis, Secundum atrial septal defect, C... |
OMIM:612541 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:169090 |
Glycogen Storage Disease Xii |
|
Anemia, Elevated circulating alanine aminotransferase concentration, Normocytic anemia, Jaundice,... |
OMIM:611881 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Hepatic fibrosis, Hepatic failure, Cirrhosis, Hepatomegaly |
OMIM:602579 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Precocious puberty in females, Adrenocorticotropic hormone excess, Bifid scrotum, Bilateral crypt... |
ORPHA:90793 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Cirrhosis, Elevated hepatic transaminase, Labial hypertrophy, Hepatic steatosis, Acute pancreatit... |
OMIM:608594 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Cirrhosis, Elevated hepatic transaminase, Labial hypertrophy, Ventricular septal hypertrophy, Hep... |
OMIM:269700 |
Acquired Generalized Lipodystrophy |
|
Cirrhosis, Hepatic steatosis, Acute pancreatitis, Polycystic ovaries, Hepatomegaly, Cardiomyopathy |
ORPHA:79086 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Neoplasm of the pancreas, Polycythemia, Pheochromocytoma, Epididymal cyst, Hepa... |
OMIM:193300 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Pericardial effusion, Abnormal tricuspid valve leaflet morphology, Anomalou... |
ORPHA:555874 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Myofiber disarray, Ventricular hypertrophy, Pericardial effusion, Ventricular septal hypertrophy,... |
OMIM:115197 |
Chronic Granulomatous Disease |
|
Liver abscess, Abnormality of neutrophils, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:379 |
Niemann-Pick Disease, Type C1 |
|
Sea-blue histiocytosis, Fetal ascites, Bone-marrow foam cells, Hepatomegaly, Fatal liver failure ... |
OMIM:257220 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Anemia, Ventricular septal defect, Polysplenia, Macr... |
OMIM:619418 |
Lumbar Syndrome |
|
Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus, Hypospadias, Cryptorc... |
ORPHA:83628 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Abno... |
ORPHA:464329 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Extramedullary hematopoiesis, Elevated hepatic transaminase, Hepatic s... |
ORPHA:79303 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly |
ORPHA:33577 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatic failure, Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase c... |
OMIM:214950 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Elevated hepatic transaminase, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombocytopen... |
OMIM:617591 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Anemia, Jaundice, Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Ly... |
OMIM:603553 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233710 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Neuroendocrine Tumor Of The Colon |
|
Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Elevated hepatic... |
ORPHA:100080 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Familial Mediterranean Fever |
|
Neutrophilia, Pericarditis, Leukocytosis, Hepatomegaly, Peritonitis, Orchitis, Splenomegaly |
OMIM:249100 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... |
OMIM:616005 |
Citrullinemia Type Ii |
|
Hyperactivity, Hepatic fibrosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic... |
ORPHA:247585 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Abdominal sit... |
OMIM:306955 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Hemophagocytosis, Splenomegaly, Pancytopenia |
OMIM:618398 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233690 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... |
ORPHA:86843 |
Meckel Syndrome 14 |
|
Single ventricle, Hepatic fibrosis, Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
Proteus-Like Syndrome |
|
Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia, Splenomegaly |
ORPHA:2969 |
Mixed Connective Tissue Disease |
|
Leukopenia, Hemolytic anemia, Pericarditis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadeno... |
ORPHA:809 |
Scheie Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:93474 |
Syndromic Diarrhea |
|
Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of the liver, Ventricular sept... |
ORPHA:84064 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... |
OMIM:610199 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Adrenocorticotropic hormone excess, Midshaft hypospadias, Sex reversal,... |
ORPHA:168558 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia |
ORPHA:90033 |
Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Jaundice, Giant neutrophil granules, Lymphadenopathy, Hemophagocytosis, Hepat... |
OMIM:214500 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Adrenocorticotropic hormone excess, Midshaft hypospadias, Sex reversal,... |
ORPHA:289548 |
Primary Sclerosing Cholangitis |
|
Cholangiocarcinoma, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatosplenomegaly, ... |
ORPHA:171 |
Trichohepatoenteric Syndrome 1 |
|
Hepatic fibrosis, Splenomegaly, Cirrhosis, Abnormality of the pancreas, Hepatic failure, Ventricu... |
OMIM:222470 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... |
ORPHA:2442 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Jaundice, Dextrocardia, Situs inversus totalis, Hepatomegaly, Hepatic cysts |
OMIM:613095 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Hepatomegaly, Decreased l... |
OMIM:301068 |
Cirrhotic Cardiomyopathy |
|
Cirrhosis, Jaundice, Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiom... |
ORPHA:57777 |
Niemann-Pick Disease, Type C2 |
|
Sea-blue histiocytosis, Jaundice, Fetal ascites, Bone-marrow foam cells, Hepatomegaly, Prolonged ... |
OMIM:607625 |
Dyskeratosis Congenita |
|
Cirrhosis, Anemia, Hepatic failure, Abnormal testis morphology, Displacement of the urethral meat... |
ORPHA:1775 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Enlarged kidney, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Ascites |
OMIM:200995 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... |
OMIM:157640 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Elevated hepatic transaminase, Re... |
OMIM:137920 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Hypertrophic cardiomyopathy, Left atrial enlargement, Hepatomegaly... |
ORPHA:75249 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Ventricular septal defect, Labial hypertrophy, Hepatomegaly, Cryptorchidism, ... |
ORPHA:96191 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Enlarged polycystic ovaries, Hypoplasia of the vagina, Decreased testicular size, Ambiguous genit... |
ORPHA:90796 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Polysplenia, Attention deficit hyperactivity disorder, Macrocytic anemia, Cryptorc... |
OMIM:614294 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Megaloblastic anemia, Dysphagia |
OMIM:300322 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxi... |
ORPHA:99819 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Thrombocytopenia, Tetralogy of Fallot, Abnormal cardiac septum morphology |
ORPHA:3320 |
Tyrosinemia, Type I |
|
Cirrhosis, Anemia, Hepatic failure, Enlarged kidney, Hepatocellular carcinoma, Elevated hepatic t... |
OMIM:276700 |
Triosephosphate Isomerase Deficiency |
|
Hemolytic anemia, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholecystitis, Macrocyti... |
OMIM:615512 |
Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Pancreatitis, Splenomegaly, Hepatomegaly |
OMIM:615947 |
Brucellosis |
|
Endocarditis, Leukopenia, Anemia, Abnormality of the liver, Orchitis, Liver abscess, Hypersplenis... |
ORPHA:1304 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necro... |
OMIM:618278 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Vaginal atresia, Parathyroid hypoplasia, Aplasia of the uterus, Abnormal heart morphology, Hypopa... |
ORPHA:2237 |
Lymphatic Malformation 6 |
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Hydrocele testis, Atrial septal defect, Ascites, Splenomegaly, Intestinal lymphangiectasia |
OMIM:616843 |
Glycogen Storage Disease Ib |
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Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Elevated hepatic transaminase, Pancreati... |
OMIM:232220 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Abnormality of the liver, Jaundice, Elevated hepatic transaminase, Polycythemia, Hypertrophic car... |
ORPHA:309854 |
Gaucher Disease Type 3 |
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Mitral valve calcification, Anemia, Pericardial effusion, Abnormal heart valve morphology, Pancyt... |
ORPHA:77261 |
Kikuchi-Fujimoto Disease |
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Abnormal lymph node morphology, Leukopenia, Anemia, Myocarditis, Enlargement of parotid gland, Ly... |
ORPHA:50918 |
Hyperparathyroidism, Neonatal Severe |
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Primary hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly |
OMIM:239200 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Pericarditis, Lymphadenopathy, Leukocytosis, Orchitis, Peritonitis, Splenomegaly, Abnormal myocar... |
ORPHA:32960 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity, Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxi... |
ORPHA:424 |
Argininemia |
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Hyperactivity, Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hepatomegaly |
OMIM:207800 |
Common Variable Immunodeficiency |
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Abnormality of the liver, Hemolytic anemia, Elevated hepatic transaminase, Lymphopenia, Autoimmun... |
ORPHA:1572 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Aplasia of the uterus, Hypoparathyroidism, Septate vagina, Aplasia of the vagina, Uterus didelphys |
OMIM:146255 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Ambiguous genitalia, female, Hypoplasia of the vagina, Decreased testicular size, Precocious pube... |
OMIM:202010 |
Neuroendocrine Neoplasm Of Appendix |
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Adrenocorticotropic hormone excess, Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenos... |
ORPHA:100079 |
Hyperlipoproteinemia, Type I |
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Jaundice, Pancreatitis, Splenomegaly, Hepatosplenomegaly |
OMIM:238600 |
Interstitial Lung And Liver Disease |
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Anemia, Hepatic fibrosis, Cirrhosis, Elevated circulating alanine aminotransferase concentration,... |
OMIM:615486 |
Autosomal Recessive Polycystic Kidney Disease |
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Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Periportal fibrosis, Hypersplenism, Jaun... |
ORPHA:731 |
Hyperzincemia With Functional Zinc Depletion |
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Hepatomegaly |
OMIM:601979 |
Granulomatous Disease, Chronic, X-Linked |
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Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:306400 |
Familial Mediterranean Fever |
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Splenomegaly, Pericarditis, Lymphadenopathy, Orchitis, Ascites, Peritonitis, Acute hepatic failur... |
ORPHA:342 |
Gray Platelet Syndrome |
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Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules |
OMIM:139090 |
Grfoma |
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Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the thymus, Increased circulating pr... |
ORPHA:97261 |
Immunodeficiency 87 And Autoimmunity |
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Atrioventricular canal defect, Elevated circulating alanine aminotransferase concentration, Decre... |
OMIM:619573 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Atrioventricular canal defect, Hydrometrocolpos, Vaginal atresia, Hepatomegaly, Splenomegaly |
OMIM:617088 |
Hemophagocytic Syndrome Associated With An Infection |
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Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Elevated hepatic... |
ORPHA:158048 |
Beckwith-Wiedemann Syndrome |
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Gonadoblastoma, Pancreatic hyperplasia, Enlarged kidney, Hepatoblastoma, Hepatomegaly, Cryptorchi... |
OMIM:130650 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Splenomegaly, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Hepatomegaly, Vacuolat... |
ORPHA:565612 |
Townes-Brocks Syndrome 2 |
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Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Pearson Syndrome |
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Anemia, Hepatic failure, Abnormality of the liver, Decreased response to growth hormone stimulati... |
ORPHA:699 |
Pancreatoblastoma |
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Abnormal lymph node morphology, Jaundice, Pancreatic calcification |
ORPHA:677 |
Familial Tumoral Calcinosis |
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Splenomegaly, Hepatomegaly |
ORPHA:53715 |
Ppoma |
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Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... |
ORPHA:97278 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity, Hyperthyroidism, Increased circulating T4 concentration, Thyroid hyperplasia, Incr... |
OMIM:609152 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Cirrhosis, Hepatic failure, Hypersplenism, Neoplasm of the liver, Acute promyelocytic leukemia, A... |
ORPHA:77293 |
Ectodermal Dysplasia And Immunodeficiency 2 |
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Aplasia of the sweat glands, Splenomegaly, Hepatomegaly |
OMIM:612132 |
Liver Disease, Severe Congenital |
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Subvalvular aortic stenosis, Elevated hepatic transaminase, Portal inflammation, Hepatic steatosi... |
OMIM:619991 |
Somatostatinoma |
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Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... |
ORPHA:97283 |
Oeis Complex |
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Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male, La... |
OMIM:258040 |
Popliteal Pterygium Syndrome |
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Hypoplasia of the vagina, Bifid scrotum, Hypoplastic labia majora, Cryptorchidism, Small scrotum,... |
OMIM:119500 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Stomatocytosis, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Increased mean platelet volume |
OMIM:153670 |
Thrombocytopenia-Absent Radius Syndrome |
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Pancreatic cysts, Atrioventricular canal defect, Anemia, Ventricular septal defect, Atrial septal... |
OMIM:274000 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Reynolds Syndrome |
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Biliary cirrhosis, Jaundice, Elevated hepatic transaminase, Lymphopenia, Cholestasis, Hepatomegal... |
OMIM:613471 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Hypogonadism, Splenomegaly, Hepatomegaly |
ORPHA:163746 |
Porphyria, Congenital Erythropoietic |
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Hemolytic anemia, Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly |
OMIM:263700 |
Hydrolethalus Syndrome 1 |
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Ventricular septal defect, Bifid uterus, Hypospadias, Adrenal gland dysgenesis, Complete atrioven... |
OMIM:236680 |
Okamoto Syndrome |
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Ventricular septal defect, Abnormal mitral valve morphology, Abnormal left ventricle morphology, ... |
ORPHA:2729 |
Sarcoidosis, Susceptibility To, 1 |
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Pericardial effusion, Enlarged lacrimal glands, Generalized lymphadenopathy, Pancytopenia, Abnorm... |
OMIM:181000 |
Chromosome 17Q12 Deletion Syndrome |
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Unicornuate uterus, Elevated hepatic transaminase, Aplasia of the uterus, Urethral stenosis, Cryp... |
OMIM:614527 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Urethral atresia, Absent external genitalia, Aplasia of the vagina, Aplasia of the uterus |
OMIM:271520 |
Pontocerebellar Hypoplasia Type 7 |
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Ambiguous genitalia, Absent penis, Microphallus, Aplasia of the uterus, Gonadal dysgenesis, Abnor... |
ORPHA:284339 |
Fanconi Anemia, Complementation Group L |
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Aplasia of the uterus, Anemia, Micropenis, Bone marrow hypocellularity |
OMIM:614083 |
Cystic Fibrosis |
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Cirrhosis, Biliary cirrhosis, Cor pulmonale, Hepatosplenomegaly, Hepatomegaly, Exocrine pancreati... |
OMIM:219700 |
Von Hippel-Lindau Disease |
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Pancreatic cysts, Pancreatic endocrine tumor, Elevated circulating catecholamine level, Neoplasm ... |
ORPHA:892 |
Exstrophy-Epispadias Complex |
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Absent penis, Bifid scrotum, Penoscrotal transposition, Epispadias, Bifid uterus, Bifid penis, Ab... |
ORPHA:322 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Precocious puberty in females, Urogenital sinus anomaly, Ambiguous genitalia, Ambiguous genitalia... |
ORPHA:90794 |
Steinert Myotonic Dystrophy |
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Decreased fertility, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Imp... |
ORPHA:273 |
Wolf-Hirschhorn Syndrome |
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Precocious puberty, Ventricular septal defect, Atrial septal defect, Biliary tract abnormality, A... |
OMIM:194190 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Cryptorchidism, Aortopulmonary window, Hepatomegaly, Ventricular septal defect |
OMIM:620025 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Atrial septal dilatation, Abnormality of the hepatic vasculature, Hepatomegaly, Cardiomegaly, Rig... |
ORPHA:1677 |
Phocomelia, Schinzel Type |
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Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple |
ORPHA:1521 |
X-Linked Intellectual Disability, Snyder Type |
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Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism |
ORPHA:3063 |
Limb-Mammary Syndrome |
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Aplasia of the ovary, Absent nipple, Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, ... |
ORPHA:69085 |
Floating-Harbor Syndrome |
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Precocious puberty, Congenital posterior urethral valve, Epididymal cyst, Impulsivity, Hypospadia... |
ORPHA:2044 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
Ehlers-Danlos Syndrome, Vascular Type |
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Anemia, Cervical insufficiency, Mitral valve prolapse, Uterine rupture, Cystocele, Cryptorchidism... |
OMIM:130050 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Townes-Brocks Syndrome 1 |
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Ventricular septal defect, Bifid scrotum, Rectovaginal fistula, Rectoperineal fistula, Atrial sep... |
OMIM:107480 |
Congenital Total Pulmonary Venous Return Anomaly |
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Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... |
ORPHA:99125 |
Floating-Harbor Syndrome |
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Congenital posterior urethral valve, Epididymal cyst, Hypospadias, Varicocele, Cryptorchidism, Gl... |
OMIM:136140 |
Neu-Laxova Syndrome 1 |
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Patent foramen ovale, Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of t... |
OMIM:256520 |
Coffin-Siris Syndrome 1 |
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Ventricular septal defect, Atrial septal defect, Aplasia of the uterus, Hypospadias, Cryptorchidi... |
OMIM:135900 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Cryptorchidism, Hypoplastic n... |
OMIM:276820 |
Loeys-Dietz Syndrome |
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Uterine rupture |
ORPHA:60030 |
Vascular Ehlers-Danlos Syndrome |
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Mitral valve prolapse, Uterine rupture, Hypospadias, Cystocele, Cryptorchidism, Uterine prolapse,... |
ORPHA:286 |
Norrie Disease |
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Uterine rupture, Cryptorchidism |
ORPHA:649 |
Pallister-Killian Syndrome |
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Ventricular septal defect, Labial hypoplasia, Aplasia of the upper vagina, Supernumerary nipple, ... |
OMIM:601803 |