Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Polycythemia Vera |
|
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... |
OMIM:263300 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... |
OMIM:133100 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
Primary Familial Polycythemia |
|
Polycythemia, Epistaxis, Abnormal hemoglobin, Cough, Exertional dyspnea, Dyspnea |
ORPHA:90042 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Exertional dyspnea, Methemoglobinemia |
OMIM:250800 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased red blood cell mass, Increased hematocrit, Hypotension, Increased ... |
OMIM:263400 |
Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Tempi Syndrome |
|
Telangiectasia, Hypoxemia, Intracranial hemorrhage, Ascites, Polycythemia, Transudative pleural e... |
ORPHA:284227 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis |
OMIM:615395 |
Pericardial Effusion, Chronic |
|
Polycythemia, Constrictive pericarditis |
OMIM:260900 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:614480 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Leukocytosis, Enlarged tonsils |
ORPHA:168621 |
Alpha-Thalassemia |
|
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Polycythemia, Decreased liver function, Cirrhosis, Elevated hepatic transaminase |
OMIM:613280 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Erythr... |
ORPHA:231222 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... |
OMIM:613673 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Gaucher Disease, Type I |
|
Hepatomegaly, Hypertension, Mitral regurgitation, Epistaxis, Anemia, Pulmonary arterial hypertens... |
OMIM:230800 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Li-Fraumeni Syndrome 2 |
|
Meningioma, Stomach cancer, Breast carcinoma, Sarcoma, Glioma |
OMIM:609265 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Heparin-Induced Thrombocytopenia |
|
Myocardial infarction, Autoimmune thrombocytopenia, Pulmonary embolism, Cerebral ischemia |
ORPHA:3325 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Decr... |
ORPHA:399805 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, Dyspnea, HbH hemo... |
ORPHA:231401 |
Trimethylaminuria |
|
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly, Recurrent pneumonia |
OMIM:602079 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Chronic pulmonary obstruction, Ascites, Pulmonary arterial hypertension, Cough, Tri... |
ORPHA:2414 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Respiratory insufficiency, Leukopenia, Monocytosis, Mitral regurgitati... |
OMIM:612541 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Abnormal eosin... |
ORPHA:1164 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Dyspnea, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
Cerebral Sarcoma |
|
Fibrosarcoma, Neoplasm |
OMIM:117600 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia |
ORPHA:98797 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
Poems Syndrome |
|
Thrombocytosis, Ascites, Lymphadenopathy, Polycythemia, Respiratory insufficiency due to muscle w... |
ORPHA:2905 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Hypoxemia, Increased mean corpuscular vo... |
ORPHA:232 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Respiratory insufficiency, Hepatitis, Abnormal hemoglo... |
ORPHA:848 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Mediastinal lymphadenopathy, Pulmonary arterial hypertension, Cough, Decreased DLCO, Dyspnea |
OMIM:234810 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... |
OMIM:606719 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... |
OMIM:224120 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
Hepatocellular Carcinoma |
|
Hepatomegaly, Thrombocytosis, Hemobilia, Ascites, Polycythemia, Budd-Chiari syndrome, Hepatic nec... |
ORPHA:88673 |
Immunodeficiency 52 |
|
Bronchiectasis, Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hem... |
OMIM:617514 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Polycythemia, Micronodular cirrhosis, Splenomegaly, Ab... |
ORPHA:309854 |
Pulmonary Arteriovenous Malformation |
|
Brain abscess, Hypoxemia, Telangiectasia, Heart murmur, Iron deficiency anemia, Palpitations, Epi... |
ORPHA:2038 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Hypoxemia, Mediastinal lymphadenopathy, Bronchiectasis, Pneumothorax, Pulmonary art... |
OMIM:612387 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... |
ORPHA:399808 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Duodenal Neuroendocrine Tumor |
|
Right ventricular failure, Tricuspid stenosis, Elevated hepatic transaminase, Lymphadenopathy, Ir... |
ORPHA:100076 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Leukopenia, Ascites, Biliary tract obstruction, Pulmonary arterial hypertension, An... |
ORPHA:77259 |
Livedoid Vasculopathy |
|
Leukocytosis, Hypertension, Ischemic stroke, Polycythemia, Anemia, Telangiectasia of the skin, Pa... |
ORPHA:542643 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Paroxysmal dyspnea, Myocarditis, Crackles, Exe... |
ORPHA:563 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Congestive heart failure |
ORPHA:163596 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
Fumarase Deficiency |
|
Polycythemia, Cholestasis, Hepatic failure |
OMIM:606812 |
Glutamate-Cysteine Ligase Deficiency |
|
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Jaundice |
ORPHA:33574 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormal pattern of respiration, Hypertensive crisis, ... |
ORPHA:3287 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:618495 |
Muir-Torre Syndrome |
|
Sebaceous gland carcinoma, Malignant genitourinary tract tumor, Benign gastrointestinal tract tum... |
OMIM:158320 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, Pneumonia, Lymphadenopathy, Splenomegaly, T lymphocytopenia |
OMIM:608971 |
Familial Thrombocytosis |
|
Syncope, Thrombocytosis, Pulmonary arterial hypertension, Chronic myelogenous leukemia, Splenomeg... |
ORPHA:71493 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular Schwannoma, Carcinoma |
OMIM:603641 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatic steatosis |
OMIM:615595 |
Lambert Syndrome |
|
Branchial anomaly, Intrauterine growth retardation |
ORPHA:1296 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia, Dyspnea |
ORPHA:517 |
Tumor Predisposition Syndrome |
|
Cutaneous melanoma, Meningioma, Lung adenocarcinoma, Renal cell carcinoma, Uveal melanoma |
OMIM:614327 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Cirrhosis, Congestive heart... |
OMIM:613313 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal sarcoma, Hydronephrosis, Renal hypoplasia, Nephrotic syndrome, Rena... |
OMIM:143400 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Neutropenia, Tachypnea, Pulmonary arterial hypertension, Anemia, Thrombocytopenia |
OMIM:614857 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Brain abscess, Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa ... |
OMIM:600376 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Hypertension, Hypoxemia, Crackles, Bronchiectasis, Lymphadenopathy, Tachypnea... |
ORPHA:79126 |
Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... |
OMIM:602088 |
Von Hippel-Lindau Syndrome |
|
Hypertension, Pancreatic cysts, Polycythemia, Neoplasm of the pancreas, Abnormality of the liver |
OMIM:193300 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Leukopenia, Pulmonary arterial hypertension, Anemia, Respiratory failu... |
OMIM:613845 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormalit... |
ORPHA:90064 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Cough, Cirrhosis, Exertional dyspnea, Decreased DLCO, Dyspnea |
OMIM:178500 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hepatic steatosis |
OMIM:615238 |
Immunodeficiency 48 |
|
Hepatomegaly, Pneumonia, Splenomegaly |
OMIM:269840 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Epistaxis, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepa... |
OMIM:612840 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... |
OMIM:616860 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative disorder, Eosinophilia |
OMIM:607685 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Hepatic steatosis, Infertility, Azoospermia |
OMIM:615703 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Dyspnea, Anemia, Splenomegaly |
ORPHA:75563 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Epistaxis, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia |
OMIM:314050 |
Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension, Micronodular cirrhosis, Jaundice |
OMIM:215600 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... |
OMIM:603552 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Brain abscess, Spontaneous, recurrent epistaxis, Melena, Exertional dyspnea, Transient ischemic a... |
OMIM:187300 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Obstructive sleep apnea, Mitral regurgitation, Aortic regurgitation, Pulmonary arte... |
OMIM:607015 |
Birt-Hogg-Dube Syndrome |
|
Fibrofolliculoma, Renal cell carcinoma, Renal cyst, Large intestinal polyposis, Cutaneous leiomyo... |
OMIM:135150 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Epistaxis, Splenomegaly |
ORPHA:721 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis |
ORPHA:209919 |
Immunodeficiency 27A |
|
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Pneumonia, Lymphadenopathy, Anemia,... |
OMIM:209950 |
Spermatogenic Failure 4 |
|
Recurrent spontaneous abortion, Azoospermia |
OMIM:270960 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:235700 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:616829 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:100024 |
Mixed Connective Tissue Disease |
|
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Pericarditis, Leukopenia, Lymphadenopathy... |
ORPHA:809 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Elevated hepat... |
OMIM:301045 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Vasculitis |
ORPHA:37748 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
Nut Midline Carcinoma |
|
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... |
ORPHA:443167 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis |
OMIM:601466 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Syncope, Palpitations, Elevated jugular venous pressure, Pulmonary arterial hyperte... |
ORPHA:422 |
Gaisböck Syndrome |
|
Hypertension, Elevated diastolic blood pressure, Increased red blood cell count, Myocardial infar... |
ORPHA:90041 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Respiratory insufficiency, Splenomegaly |
ORPHA:139406 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:185000 |
Spherocytosis, Type 4 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
Hereditary Hemorrhagic Telangiectasia |
|
Cerebral hemorrhage, Conjunctival telangiectasia, Telangiectasia of the skin, Cholelithiasis, Epi... |
ORPHA:774 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... |
OMIM:616278 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
Nephronophthisis 20 |
|
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:182900 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:616649 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Dyspnea, Sea-blue histiocytosis |
OMIM:607616 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hepatic failure, Elevated hepatic trans... |
OMIM:617156 |
Harderoporphyria |
|
Hepatomegaly, Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hemolytic anemia |
OMIM:618892 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:100025 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia, Pulmonary arter... |
ORPHA:464343 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Macrovesicular hepatic steatosis, Acute hepatic f... |
OMIM:613070 |
Hemochromatosis Type 4 |
|
Congenital hepatic fibrosis, Hepatic steatosis, Cirrhosis |
ORPHA:139491 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis, Re... |
OMIM:613101 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, T lymphocytop... |
OMIM:619164 |
Babesiosis |
|
Hepatomegaly, Respiratory insufficiency, Leukopenia, Cough, Splenomegaly, Myocardial infarction, ... |
ORPHA:108 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... |
OMIM:300908 |
Adams-Oliver Syndrome 5 |
|
Right ventricular hypertrophy, Pulmonary arterial hypertension, Pulmonic stenosis, Splenomegaly, ... |
OMIM:616028 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Li-Fraumeni Syndrome |
|
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... |
OMIM:151623 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hepatic failure, Hepatic steatosis |
OMIM:617872 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Von Hippel-Lindau Disease |
|
Myocarditis, Hypertension, Pancreatic cysts, Polycythemia, Palpitations, Neoplasm of the pancreas... |
ORPHA:892 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... |
OMIM:109270 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice |
OMIM:266200 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... |
OMIM:194380 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Hypertension, Neutropenia, Pulmonary arterial hyperten... |
ORPHA:1830 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Overlap Myositis |
|
Hypertension, Leukopenia, Pulmonary arterial hypertension, Raynaud phenomenon, Elevated hepatic t... |
ORPHA:206572 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:617093 |
Primary Myelofibrosis |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Neoplasm of the skin, Juvenile gastrointestinal polyposis, Astrocytoma, Neo... |
ORPHA:480536 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Parathyroid carcinoma, Hurthle cell thyroid adenoma, Pancreatic adenocarcinoma, Renal cortical ad... |
OMIM:145001 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic liver di... |
ORPHA:79301 |
Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... |
OMIM:617805 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... |
ORPHA:454840 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis |
OMIM:613877 |
Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease |
OMIM:617610 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly |
OMIM:615947 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Cardiomyopathy, Dilated, 2C |
|
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction |
OMIM:618189 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Squamous cell carcinoma |
OMIM:618267 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Respiratory insufficiency, Elevated hepatic transaminase, Splenomegaly, Hepatosplen... |
OMIM:610333 |
Ceroid storage disease |
|
Abnormality of the spleen, Hepatic failure |
OMIM:214200 |
Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Jaundice, Poikilocytos... |
ORPHA:288 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Proximal tubulopathy, Glu... |
OMIM:231680 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Abnormally loud pulmonic component of the second heart sound, Elevated jugular venous pressure, P... |
OMIM:265450 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Allergic rhinitis, Anemia, Splenomegaly, Jaundice, Asthma, Exocrine pancreatic insu... |
OMIM:612714 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:610717 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory failure, Hypertension, Pulmonary arterial hypertension, Respiratory insufficiency |
OMIM:605711 |
Adams-Oliver Syndrome |
|
Leukopenia, Ascites, Congenital hepatic fibrosis, Pulmonary arterial hypertension, Cirrhosis, Gas... |
ORPHA:974 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Pulmonary arterial hypertension, Patent ductus arteriosus, Pulmonic stenosis, Splen... |
OMIM:608149 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst, Abnormality of the kidney |
OMIM:615987 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Macrovesicular hepatic steatosis, Hepatomegaly |
OMIM:618234 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Recurrent aspiration pneumonia, Apnea, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:230900 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short distal phalanx of finger, Short stature |
OMIM:609166 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Ascites, Epistaxis, Nodular regenerative hyperplasia of l... |
OMIM:619463 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Leukopenia, Ascites, Anemia, Nodular regenerative hyperplasia of liver,... |
ORPHA:64743 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Bronchiectasis, Lymphadenopathy, Splenomegaly, Autoimmune thrombocyt... |
OMIM:300853 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia, Allergic rhinitis |
ORPHA:26137 |
Autoimmune Hemolytic Anemia |
|
Splenomegaly, Congestive heart failure, Dyspnea, Hemolytic anemia, Arrhythmia, Abnormal leukocyte... |
ORPHA:98375 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... |
OMIM:210250 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis |
ORPHA:79084 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Renal cortical cysts |
OMIM:617668 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Rhinitis, Anemia, Splen... |
ORPHA:507 |
Lysosomal Acid Lipase Deficiency |
|
Microvesicular hepatic steatosis, Hepatic fibrosis, Ascites, Elevated hepatic transaminase, Vacuo... |
ORPHA:275761 |
Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Rectal polyposis, Astrocytoma, Neoplasm of the stomach, Adenomatous colonic... |
ORPHA:220460 |
Lipoyltransferase 1 Deficiency |
|
Decreased liver function, Pulmonary arterial hypertension, Bradycardia, Elevated hepatic transami... |
OMIM:616299 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis |
ORPHA:436182 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Bronchiectasis, Lymphadenopathy, Splenomegal... |
OMIM:618534 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:618107 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux |
OMIM:618270 |
Cheilitis Glandularis |
|
Squamous cell carcinoma, Neoplasm |
ORPHA:1221 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypertrophic cardiomyopathy, Stridor, Leukopenia, Mitral regurgitation, Pulmonary arterial hypert... |
ORPHA:505248 |
Adrenomyodystrophy |
|
Hepatic steatosis, Pituitary corticotropic cell adenoma |
OMIM:300270 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma, Cortical tubers |
OMIM:600273 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Abnormal pattern of respiration, Cough, Splenomegaly, Respiratory distress, Cardiac... |
ORPHA:77260 |
Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Cardiac conduction abnormality, Exertional dyspnea, Supraventricular arrhyth... |
ORPHA:99105 |
Immunodeficiency 87 And Autoimmunity |
|
Dilated cardiomyopathy, Hepatomegaly, Third degree atrioventricular block, Hypertension, Cervical... |
OMIM:619573 |
Hereditary Spherocytosis |
|
Hepatomegaly, Restrictive cardiomyopathy, Anemia, Cholelithiasis, Splenomegaly, Extramedullary he... |
ORPHA:822 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Abscess,... |
OMIM:150550 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Neonatal respiratory distress, Cardiomyopathy, Pulmonary arterial hypertension |
OMIM:619003 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pulmonary arterial hypertension, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia |
ORPHA:77261 |
Cheilitis Glandularis |
|
Squamous cell carcinoma, Carcinoma |
OMIM:118330 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Hepatic fibrosis, Hypochromic microcytic anemia, Hepatocellular carcinoma... |
ORPHA:231226 |
Testicular Germ Cell Tumor |
|
Teratoma, Choriocarcinoma, Embryonal neoplasm, Azoospermia |
OMIM:273300 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Respiratory insufficiency, Ascites, Splenomegaly |
ORPHA:1046 |
Eisenmenger Syndrome |
|
Brain abscess, Right ventricular failure, Syncope, Left-to-right shunt, Wheezing, Ventricular arr... |
ORPHA:97214 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619658 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Omenn Syndrome |
|
Hepatomegaly, B lymphocytopenia, Pneumonia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Sp... |
OMIM:603554 |
Rowley-Rosenberg Syndrome |
|
Hypertension, Right ventricular hypertrophy, Pulmonary arterial hypertension, Recurrent pneumonia... |
OMIM:268500 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... |
OMIM:613470 |
Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Cough, Splenomegaly, Dyspnea |
ORPHA:98293 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Hepatomegaly, Anisopoikilocytosis, Hepatic fibrosis, Hypochromic microcyt... |
ORPHA:231214 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Annular pancreas, Pulmonary arterial hypertension, Patent ductus arteriosus, Absent gal... |
ORPHA:210122 |
Familial Adenomatous Polyposis 1 |
|
Adrenocortical carcinoma, Osteoma, Astrocytoma, Adrenocortical adenoma, Adenomatous colonic polyp... |
OMIM:175100 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Vas... |
OMIM:308240 |
Tularemia |
|
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Thrombocytopenia, Pneumonia, Lymphadeno... |
ORPHA:3392 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Hepatomegaly, Intracranial hemorrhage, Acute leukemia, Lymphadenopathy, Bone marrow... |
ORPHA:3226 |
Yellow Nail Syndrome |
|
Sinusitis, Bronchiectasis, Rhinitis, Biliary tract neoplasm, Pulmonary arterial hypertension, Hyp... |
ORPHA:662 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hep... |
OMIM:603471 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Cardiomyopathy, Splenomegaly, Respiratory distre... |
ORPHA:79312 |
Coronary Arterial Fistula |
|
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Tachypnea, Elevated jugula... |
ORPHA:2041 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Facial telangiectasia, Hepatomegaly, Pancreatic hypoplasia, Lymphadenopathy, Retroperitoneal fibr... |
OMIM:602782 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Congenital Respiratory-Biliary Fistula |
|
Abnormality of the liver |
ORPHA:2040 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Leukocytosis, Thrombocytosis, Lymphocytic interstitial pneumonia, Pneumonia, Peritonit... |
ORPHA:2968 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Myocardial infarction, Reticulocytosis, Thrombocytopenia, Dysp... |
ORPHA:54057 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Hypoxemia, Anemia, Cough, Dyspnea, Pulmonary venous hypertension, Increased DLCO, R... |
ORPHA:90060 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Leukocytosis, Hypertension, Respiratory insufficiency, Lymphadenitis, Apnea,... |
OMIM:618886 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... |
OMIM:278000 |
Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Hepatomegaly, Neutropenia, Prolonged QT interval, Elevated hepatic transa... |
ORPHA:398124 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Dec... |
OMIM:613011 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Pulmonary arterial hypertension, Congestive heart failure |
OMIM:616045 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Hypoxemia, Hypochromia, Stomatocytosis, Tachypnea, Tachycard... |
ORPHA:71275 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Lymphadenopathy, Anemia, Abnormal... |
ORPHA:98850 |
Cinca Syndrome |
|
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia |
OMIM:607115 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Subdural hemorrhage, Lymphadenopathy, Melena, Splenomegaly, Acute pancreatitis, Panc... |
ORPHA:99827 |
Sickle Cell Anemia |
|
Leukocytosis, Hepatomegaly, Hypertension, Hypoxemia, Cardiomegaly, Cholelithiasis, Splenomegaly, ... |
OMIM:603903 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies... |
ORPHA:231154 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemoly... |
OMIM:232800 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:611881 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Decreased liver function, Hepatic steatosis, Cholestasis, Elevated hepatic trans... |
OMIM:614300 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Fetal Gaucher Disease |
|
Abnormality of the spleen, Hepatomegaly, Intracranial hemorrhage, Neonatal death, Stillbirth, Spl... |
ORPHA:85212 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume |
OMIM:611590 |
Glut1 Deficiency Syndrome 2 |
|
Reticulocytosis |
OMIM:612126 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Respiratory insufficiency, Ascites, Patent ductus arteriosus, Gastrointestinal hemo... |
ORPHA:90308 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Renal dysplasia, Renal cyst, Renal insufficiency, Abnormality of the kidney |
OMIM:615993 |
Cold Agglutinin Disease |
|
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly |
ORPHA:56425 |
Gracile Syndrome |
|
Cirrhosis, Hepatic steatosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Vasculitis, Thrombocytopenia, Splenomegaly |
OMIM:615846 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... |
OMIM:607594 |
Acquired Methemoglobinemia |
|
Syncope, Hypoxemia, Palpitations, Methemoglobinemia, Tachycardia, Respiratory distress, Dyspnea, ... |
ORPHA:464453 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis |
OMIM:271500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Ele... |
OMIM:619048 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly |
OMIM:616719 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus |
OMIM:613355 |
Mpdu1-Cdg |
|
Renal cortical cysts |
ORPHA:79323 |
Beckwith-Wiedemann Syndrome |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Polycythemia, Cardiomegaly, Hepatoblastoma, Splenomega... |
ORPHA:116 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Immunodeficiency 32B |
|
Sinusitis, Bronchiectasis, Pneumonia, Splenomegaly |
OMIM:226990 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Hepatomegaly, Hepatic steatosis |
OMIM:606069 |
Transaldolase Deficiency |
|
Hepatomegaly, Telangiectasia, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Patent ductus art... |
OMIM:606003 |
Wolman Disease |
|
Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly, Hepatic failure |
ORPHA:75233 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Elevated hepatic transaminas... |
ORPHA:158057 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Anemia, Hypochromic anemia, Exertional dyspnea, Lymphocytosis, Acute monocytic leuk... |
ORPHA:514 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:264470 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgitation, Patent ductus arterio... |
OMIM:612561 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:231000 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia, Recurrent pneumonia, ... |
OMIM:619281 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:612526 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Renovascular hypertensio... |
ORPHA:391487 |
Beckwith-Wiedemann Syndrome |
|
Renal cortical cysts, Adrenocortical carcinoma, Nephrocalcinosis, Gonadoblastoma, Hepatoblastoma,... |
OMIM:130650 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hepatic steatosis |
OMIM:615980 |
Essential Thrombocythemia |
|
Acute leukemia, Abnormal platelet morphology, Splenomegaly, Myocardial infarction, Transient isch... |
ORPHA:3318 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transa... |
OMIM:614921 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Hypertension, Cholestasis, Splenomegaly |
OMIM:105200 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... |
OMIM:214900 |
Lung Cancer |
|
Non-small cell lung carcinoma, Alveolar cell carcinoma, Lung adenocarcinoma |
OMIM:211980 |
Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the peritoneum, Splenomegaly, Pleura... |
ORPHA:545 |
Familial Dilated Cardiomyopathy |
|
Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, Palpitations, Reduced ejection... |
ORPHA:217607 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Splenomegaly, Exertional dyspnea, Congestive heart failure, Autoimmune hemolytic anemia |
ORPHA:90037 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis |
OMIM:300635 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... |
ORPHA:209902 |
Omenn Syndrome |
|
Leukocytosis, Hepatomegaly, Pneumonia, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, S... |
ORPHA:39041 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis |
ORPHA:79087 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis |
ORPHA:26792 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Syncope, Abnormal T-wave, Palpitations, Reduced FEV1/FVC ratio, Pulmon... |
ORPHA:70591 |
Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomyopathy, Splenomegaly, Cirrhosis, Congestive heart f... |
OMIM:602390 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Jaundice, Hepatomegaly, Hemolytic anemia, Splenomegaly |
OMIM:608885 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Recurrent pneumonia, Pa... |
OMIM:615122 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impa... |
OMIM:618935 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Anemia, Patent ductus arteriosus, Splenomegaly, Thrombocytopenia, Jaundice |
ORPHA:290 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cyst, Renal cortical microcysts |
OMIM:614866 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl... |
ORPHA:1414 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... |
OMIM:618641 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
ORPHA:369840 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hepatocellular necrosis, Respiratory insufficiency, Tachypnea, Cardiomegaly, Anisoc... |
OMIM:618278 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocytopenia, Diffuse ... |
OMIM:616050 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Micropenis, Renal cyst, Penile hypospadias |
ORPHA:1692 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly |
OMIM:618398 |
Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Right ventricular hypertrophy, Hypertension, Pulmonary arterial hypertension, Patent ductus arter... |
OMIM:613623 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... |
ORPHA:98848 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Pancreatitis, Hepatic ... |
OMIM:618805 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Obstructive sleep apnea, Leukopenia, Pulmonary arterial hypertension, Bone marrow h... |
ORPHA:2785 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Decreased liver func... |
ORPHA:158061 |
Meconium Aspiration Syndrome |
|
Wheezing, Hypoxemia, Pulmonary insufficiency, Atelectasis, Pneumothorax, Pulmonary arterial hyper... |
ORPHA:70588 |
Polycythemia Vera |
|
Hepatomegaly, Hypertension, Respiratory insufficiency, Acute leukemia, Budd-Chiari syndrome, Epis... |
ORPHA:729 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614897 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension |
OMIM:152900 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Carcinoma, Pituitary adenoma, Carcinoid tumor, Renal angiomyolipoma, ... |
OMIM:610755 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... |
ORPHA:100026 |
Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Wheezing, Crackles, Third heart sound, Abnormal E... |
ORPHA:1329 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Restrictive ventilatory defect, Hypoxemia, Mediastinal lymphadenopathy, Bronchiecta... |
OMIM:181000 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Thrombocytosis, Ascites, Budd-Chiari syndrome, Iron deficiency anemia, Pneumonia, P... |
OMIM:226300 |
Adult-Onset Still Disease |
|
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Elevated hepatic transaminase, Hepatitis, ... |
ORPHA:829 |
Wilson Disease |
|
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acu... |
ORPHA:905 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Lymphadenopathy, Chronic rhinitis, Apnea, Anemia, Pulmonary arterial hypertension, ... |
ORPHA:667 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension |
OMIM:300887 |
Familial Pseudohyperkalemia |
|
Hypertension, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... |
ORPHA:90044 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Micronodular cirr... |
OMIM:251880 |
Infantile Liver Failure Syndrome 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly |
OMIM:615438 |
Phosphoglycerate Kinase 1 Deficiency |
|
Reticulocytosis, Hemolytic anemia |
OMIM:300653 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatic fibrosis, Pulmonary arterial hypertension, Anemia, Cholelithia... |
ORPHA:2072 |
Cryptogenic Organizing Pneumonia |
|
Wheezing, Leukocytosis, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Neutrop... |
ORPHA:1302 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Increased mean platelet volume, Stomatocytosis, Epistaxis, Splenomegaly, Hemolytic anemia |
OMIM:153670 |
Pulmonary Hypertension, Primary, Autosomal Recessive |
|
Right ventricular failure, Syncope, Right ventricular hypertrophy, Pulmonary arterial hypertensio... |
OMIM:265400 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... |
OMIM:617394 |
Immunodeficiency 54 |
|
Hepatomegaly, Respiratory insufficiency, Lymphadenopathy, Splenomegaly, Reduced natural killer ce... |
OMIM:609981 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Stillbirth, Splenomegaly, Respiratory ... |
OMIM:259720 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volume, Bone marrow hyp... |
ORPHA:86839 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Acute myeloid leukemia, Bone marrow hypocellularity |
ORPHA:98827 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Normochromic anemia, Respiratory insufficiency due to muscle weakness, Choleli... |
OMIM:615512 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Hypospadias, Meningocele, Renal cortical cysts, Renal dysplasia, Hyperechogenic kidneys, Renal in... |
ORPHA:397715 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Macrovesicular hep... |
OMIM:256810 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Tachycardia, Splenomegaly, Exertional dyspnea, Autoimmune hemolytic a... |
ORPHA:90033 |
Harrod Syndrome |
|
Hypospadias, Renal cortical microcysts |
OMIM:601095 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... |
ORPHA:99103 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Pancreatitis, Ele... |
OMIM:619386 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia |
OMIM:300985 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation |
OMIM:614651 |
C Syndrome |
|
Renal cortical cysts |
OMIM:211750 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Epistaxis, Anemia, Tachycardia, Cough, Neutrophilia, Elevated hepatic t... |
ORPHA:91547 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Splenomega... |
OMIM:602347 |
Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice |
ORPHA:75234 |
Limited Cutaneous Systemic Sclerosis |
|
Mucosal telangiectasiae, Pulmonary arterial hypertension, Telangiectasia of the skin |
ORPHA:220402 |
Scleroderma |
|
Right ventricular failure, Syncope, Myocarditis, Pericarditis, Pulmonary arterial hypertension, R... |
ORPHA:801 |
Spinocerebellar Ataxia 32 |
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