| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level |
OMIM:235550 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
| Nephronophthisis 7 |
|
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease |
OMIM:611498 |
| Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
| Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
| Nephronophthisis 18 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Thickened gl... |
OMIM:615862 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... |
OMIM:300400 |
| Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... |
OMIM:615396 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Hepatomegaly |
OMIM:606445 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... |
OMIM:615373 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... |
OMIM:615897 |
| Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
| Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
| Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614495 |
| Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate production, Sple... |
OMIM:237800 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Decreased circulating IgA level, Increas... |
OMIM:608106 |
| Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
| Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Multiple small medullary renal cysts, Stage ... |
OMIM:603860 |
| Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... |
OMIM:602088 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614496 |
| Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... |
OMIM:604169 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
| Pseudohypoaldosteronism, Type Iic |
|
Decreased circulating renin level, Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614492 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... |
OMIM:617241 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
| Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... |
OMIM:614699 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Tubulointerstitial Nephritis With Uveitis |
|
Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Reversible renal failure, Panuve... |
OMIM:607665 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia, Neutropenia, Hyponatremia |
OMIM:616949 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Type II diabetes mellitus, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corp... |
OMIM:616860 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:616629 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Short stature, Beta 2-microglobulinuria, Medullary nephrocalcin... |
OMIM:611555 |
| Joubert Syndrome 4 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Nephronophthisis, Abnormal renal medulla mor... |
OMIM:609583 |
| Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Complete o... |
OMIM:607271 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal cortic... |
OMIM:174000 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Oligohydramnios, Renal ... |
ORPHA:255249 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... |
OMIM:617610 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Anemia, Thrombocytopenia, Hyperbilirubinemia |
ORPHA:673 |
| Coach Syndrome 3 |
|
Renal tubular atrophy, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal interst... |
OMIM:619113 |
| Senior-Loken Syndrome |
|
Stage 5 chronic kidney disease, Nephronophthisis, Short stature, Chronic kidney disease |
ORPHA:3156 |
| Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
| Nephronophthisis 13 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular sclerosis, Glomerular sub... |
OMIM:614377 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
| Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... |
OMIM:601775 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
| Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
| Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
| Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... |
OMIM:615206 |
| Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Complete or near-complete absen... |
OMIM:613494 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... |
OMIM:611926 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... |
OMIM:618261 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Type I diabetes mellitus, Absent circulating B cells, Decreased ... |
OMIM:619707 |
| Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Splenomegaly, Conjugated hyperbiliru... |
OMIM:620010 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Nephronophthisis 1 |
|
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... |
OMIM:256100 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
| Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Gr... |
OMIM:606966 |
| Fetal Parvovirus Syndrome |
|
Anemia, Hydrops fetalis, Hypertrophic cardiomyopathy, Ascites, Thrombocytopenia, Increased nuchal... |
ORPHA:295 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... |
ORPHA:3202 |
| Immunodeficiency 50 |
|
Neutropenia, Lymphopenia, Decreased circulating antibody level |
OMIM:300988 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Impaired glucose tolerance, Type II diabetes mellitus, Hypertension, Myocar... |
OMIM:610947 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, ... |
ORPHA:228302 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
| Nephronophthisis 16 |
|
Patent ductus arteriosus, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysp... |
OMIM:615382 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... |
OMIM:601494 |
| Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... |
OMIM:619924 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529808 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Rhizomelia, Short stature, Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, ... |
OMIM:614376 |
| Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529799 |
| Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Oligohydramnios, Abnormal renal corticomedullary differentiation, Intrauterine g... |
OMIM:616733 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Decreased circulating I... |
OMIM:613502 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, ... |
OMIM:615751 |
| Immunodeficiency, Common Variable, 3 |
|
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... |
OMIM:613493 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:616278 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... |
OMIM:618534 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgG level, Autoimmune... |
OMIM:619220 |
| Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... |
OMIM:616636 |
| Elliptocytosis 2 |
|
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... |
ORPHA:859 |
| Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... |
OMIM:615513 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
| Rotor Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:3111 |
| Neuroleptic Malignant Syndrome |
|
Hypotension, Pulmonary embolism, Hyperphosphatemia, Hyperuricemia, Hypocalcemia, Hyperkalemia, Hy... |
ORPHA:94093 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia |
OMIM:247800 |
| Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
| Joubert Syndrome 15 |
|
Nephronophthisis, Micropenis |
OMIM:614464 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level |
OMIM:233650 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... |
OMIM:619846 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia, Dilated cardiomyopathy |
OMIM:611283 |
| Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease... |
OMIM:613500 |
| Birk-Landau-Perez Syndrome |
|
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Growth delay, Renal hypoplasia, Ren... |
OMIM:617595 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly, Increased cir... |
OMIM:618982 |
| Nephronophthisis 3 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:604387 |
| Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia, Increa... |
ORPHA:482 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Splenom... |
OMIM:619868 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:182900 |
| Nephronophthisis 19 |
|
Stage 5 chronic kidney disease, Renal interstitial fibrosis, Hyperechogenic kidneys, Nephronophth... |
OMIM:616217 |
| Jeune Syndrome |
|
Nephronophthisis, Nephropathy, Renal insufficiency, Short stature |
ORPHA:474 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Hyperbilirubinemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenome... |
OMIM:235700 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly |
OMIM:185000 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly |
OMIM:269840 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis |
OMIM:270150 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Tubulointerstitial nephritis, Proteinuria, Hematuria, Short stature |
OMIM:616901 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Congestive heart failure, Autoimmune hemolytic anemia, Tachycardia, Sp... |
ORPHA:90037 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... |
ORPHA:71275 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Angioedema, Infectious encephalitis, Nephrotic syndrome, Hepatitis,... |
ORPHA:139402 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
| Rh-Null, Regulator Type |
|
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Dehydration, Methylmalonic aciduria... |
OMIM:251000 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Agammaglobulinemia, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
| Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base... |
OMIM:613550 |
| Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Impaired T cell function, Decreased circulating IgA leve... |
OMIM:240500 |
| Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Decreased pro... |
OMIM:618944 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood... |
OMIM:613845 |
| Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Conjunctivitis, Patent ductus ar... |
ORPHA:33001 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Hypoglycemia, Neonatal hyperb... |
ORPHA:3008 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... |
OMIM:232800 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Increased circulating antibody level, Hepatomegaly, Extramedullary hematopoie... |
OMIM:615285 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... |
OMIM:607594 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... |
OMIM:615592 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... |
ORPHA:288 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Hydrops Fetalis, Nonimmune |
|
Anemia, Hydrops fetalis, Congestive heart failure, Nonimmune hydrops fetalis |
OMIM:236750 |
| Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:613944 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Decreased circula... |
OMIM:612692 |
| Congenital Isolated Acth Deficiency |
|
Hypotension, Hyperkalemia, Neonatal hypoglycemia, Hypoglycemic seizures, Hyponatremia |
ORPHA:199296 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Scleritis, Acute kidney injury, Arteri... |
ORPHA:93126 |
| Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
| Hypoadrenocorticism, Familial |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Nephrotic syndrome, Renal interstitial amylo... |
ORPHA:85450 |
| Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Splenomegaly, Elevated proportion of CD4-negative, CD8-neg... |
OMIM:601859 |
| Hemochromatosis, Type 4 |
|
Anemia, Impaired glucose tolerance, Elevated transferrin saturation, Diabetes mellitus, Increased... |
OMIM:606069 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
| Senior-Loken Syndrome 3 |
|
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresis |
OMIM:606995 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Leukemia, Increased circulating antibody level, Lymphocytosis, Pa... |
OMIM:614470 |
| Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Pulmonary arterial hypertension, Hyperprolinemia, Bradycardia, Hypergl... |
OMIM:616299 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Reduced renal corticomedullary differen... |
OMIM:619902 |
| Diamond-Blackfan Anemia 16 |
|
Anemia, Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria |
OMIM:161900 |
| Mu-Heavy Chain Disease |
|
Anemia, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy, Hepatomegal... |
ORPHA:100024 |
| Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... |
OMIM:266900 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Pulmonic stenosis |
OMIM:615508 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... |
OMIM:616501 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis |
OMIM:614582 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, S... |
ORPHA:101016 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosi... |
OMIM:266200 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... |
OMIM:617514 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Elevated systolic blood pressure,... |
OMIM:300539 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Cystic... |
ORPHA:157 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Enuresis, Short stature, Abnormality of the kidney |
ORPHA:459061 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... |
OMIM:300908 |
| Nephronophthisis-Like Nephropathy 1 |
|
Renal tubular atrophy, Chronic pancreatitis, Stage 5 chronic kidney disease, Renal corticomedulla... |
OMIM:613159 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... |
ORPHA:158057 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Intrauterine growth retardation, Postnatal growth retardation, Hydr... |
OMIM:617093 |
| Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosple... |
OMIM:613101 |
| Joubert Syndrome 7 |
|
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:611560 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:203400 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Abnormal mitochondria in muscle tissue, Dilated cardiomyopathy, Left ventric... |
OMIM:252011 |
| Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Neonatal hyperbi... |
OMIM:618892 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Gastrointestinal hemorrhage |
ORPHA:2924 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:610600 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
| Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
| Necrotizing Enterocolitis |
|
Hypotension, Abnormal glucose homeostasis, Shock, Leukocytosis, Hyponatremia, Hyperglycemia, Thro... |
ORPHA:391673 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Tubulointerstitial nephritis, Glomerulopathy, Endocarditis, Skin rash, Arthritis, Hematuria, Myos... |
ORPHA:183 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Neonatal death, Enlarged kidney, Polycystic kidney dysplasi... |
OMIM:263200 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... |
OMIM:619281 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinur... |
ORPHA:488627 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
| Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
| Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Pedal edema, Prostatitis, Sclerosing cholangitis, Pericarditis, Rena... |
ORPHA:449395 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Hypovolemia |
ORPHA:223 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
| Intermediate Uveitis |
|
Tubulointerstitial nephritis, Macular edema, Optic neuritis, Cystoid macular edema, Psoriasiform ... |
ORPHA:279914 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... |
OMIM:202700 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Absent circulating B cell... |
OMIM:613501 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Polyhydramnios, Short stature, Reduced renal corticomedullary differentiation, Growth delay, Intr... |
OMIM:618541 |
| Alstrom Syndrome |
|
Tubulointerstitial nephritis, Short stature, Chronic active hepatitis, Nephritis, Recurrent pneum... |
OMIM:203800 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... |
OMIM:267700 |
| Immunodeficiency 70 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
OMIM:618969 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... |
ORPHA:2585 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocytopenia, Im... |
OMIM:308230 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
| Immunodeficiency 61 |
|
Agammaglobulinemia, Decreased circulating IgG2 level, Decreased circulating IgG4 level, Decreased... |
OMIM:300310 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
| Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... |
ORPHA:228308 |
| Snakebite Envenomation |
|
Hypotension, Cerebral ischemia, Cardiogenic shock, Intracranial hemorrhage, Epistaxis, Myocardial... |
ORPHA:449285 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
| Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... |
OMIM:617805 |
| Colchicine Poisoning |
|
Hypotension, Hypovolemia, Cardiogenic shock, Hypophosphatemia, Hypokalemia, Congestive heart fail... |
ORPHA:31824 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Abnormality of iron homeostasis, Splenomegaly, Glucose intolerance |
ORPHA:75563 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
| Eosinophilia, Familial |
|
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Rhyns Syndrome |
|
Nephronophthisis, Renal insufficiency, Short stature, Chronic kidney disease |
OMIM:602152 |
| Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Hypotension, Neutrophilia, Epistaxis, Elevated cir... |
ORPHA:91547 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
| Senior-Loken Syndrome 8 |
|
Stage 5 chronic kidney disease, Glomerular subepithelial immune-complex deposits, Global glomerul... |
OMIM:616307 |
| Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy, Dysgammaglobulinemia |
ORPHA:158014 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
| Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:161950 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... |
OMIM:614493 |
| Polycythemia Vera |
|
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... |
OMIM:263300 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Increased circulating renin level, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Nephronophthisis, Short stature, Chronic kidney disease |
OMIM:615630 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating total IgM, Pancytopenia, Decreased circulating IgE, Decreased circulating I... |
OMIM:618394 |
| Late-Onset Familial Hypoaldosteronism |
|
Hypotension, Hyperkalemia, Increased circulating renin level, Hyponatremia, Orthostatic hypotension |
ORPHA:556037 |
| Immunodeficiency 27A |
|
Anemia, Increased circulating IgG level, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Inc... |
OMIM:209950 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia, Tachycardia |
ORPHA:90036 |
| Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Lef... |
ORPHA:85451 |
| Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Reduced natural killer cell count,... |
OMIM:301082 |
| Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Anemia, Tachycardia, Hyponatremia |
ORPHA:79273 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:177735 |
| Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Dysgammaglobulinemia, Splenomegaly |
ORPHA:100025 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology |
ORPHA:3319 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... |
OMIM:602450 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
| Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... |
ORPHA:247598 |
| Lead Poisoning |
|
Tubulointerstitial nephritis, Skin rash, Delayed puberty, Renal tubular dysfunction, Chronic kidn... |
ORPHA:330015 |
| Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Renal amyloidosis, Glomer... |
ORPHA:439232 |
| Joubert Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:608629 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... |
OMIM:619167 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension, Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
| Hb Bart'S Hydrops Fetalis |
|
Polyhydramnios, Anemia, Hydrops fetalis, Congestive heart failure, Oligohydramnios, Pericarditis,... |
ORPHA:163596 |
| Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia |
OMIM:214900 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
| Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Hyperkalemia, Congestive heart failure, Elevated circulating creatine kinase concent... |
ORPHA:682 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Posterior Urethral Valve |
|
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... |
ORPHA:93110 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Tubulointerstitial nephritis, Osteomyelitis, Nephrotic syndrome, Crusting erythematous dermatitis... |
ORPHA:37042 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Oligohydramnios, Hypertro... |
OMIM:620135 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Reduced natural killer cell activity, Decreased circulating antibody level, Fulminant hepatitis, ... |
OMIM:308240 |
| Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri... |
ORPHA:822 |
| Early-Onset Familial Hypoaldosteronism |
|
Hypotension, Hyperkalemia, Increased circulating renin level, Hyponatremia, Orthostatic hypotension |
ORPHA:556030 |
| Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia |
OMIM:210500 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Increased ci... |
OMIM:618495 |
| Whim Syndrome 1 |
|
Decreased circulating antibody level, Neutropenia, Decreased circulating IgG level |
OMIM:193670 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Autoimmune th... |
OMIM:616100 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormality of medullary pyramid morphology, Intrauterine growth retardation, Recurrent aspiratio... |
ORPHA:79243 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Congestive heart failure, Edema, Ventricular tachycardia, Cardiomyocyte h... |
OMIM:605676 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia |
OMIM:205950 |
| Odontochondrodysplasia 1 |
|
Nephronophthisis, Mesomelic short stature, Polycystic kidney dysplasia, Short stature |
OMIM:184260 |
| Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Short stature, Stage 5 chronic kidney diseas... |
OMIM:120330 |
| Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Anuria, Acute tubulointerstitial nephritis, Pulmonary edema, Acute ... |
ORPHA:340 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Maternal ... |
ORPHA:45452 |
| Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, ... |
ORPHA:1667 |
| Coach Syndrome 1 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Unilateral renal agenesis, ... |
OMIM:216360 |
| Peripartum Cardiomyopathy |
|
Pedal edema, Sinus tachycardia, Cardiogenic shock, Palpitations, Peripheral edema, Elevated jugul... |
ORPHA:563 |
| Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Edema, Pro... |
OMIM:614196 |
| Transaldolase Deficiency |
|
Anemia, Hydrops fetalis, Telangiectasia, Atrial septal defect, Hepatosplenomegaly, Biventricular ... |
ORPHA:101028 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Decreased circulating complement C3 concentration, Absent isohemagglutini... |
OMIM:615559 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:243300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul... |
OMIM:603553 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Decreased plasma free carnitine, Congestive heart failure, Hypoglycemia, Bradyca... |
OMIM:619048 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Oligohydramnios, Reduced renal cort... |
OMIM:208085 |
| Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... |
OMIM:619774 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Complet... |
OMIM:301081 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:95717 |
| Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia, Congestive heart failure |
OMIM:269920 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Increased circulating renin level, Hypovolemic shock, Arrhythmia, Hyponatremia |
ORPHA:171876 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... |
ORPHA:331206 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
| Renal Hypoplasia |
|
Vesicoureteral reflux, Hydronephrosis, Abnormal renal cortex morphology, Renal insufficiency, Rec... |
ORPHA:93101 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegaly, Lymp... |
OMIM:242700 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
| Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:613090 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Splenomegaly, Elevated proportion ... |
OMIM:603909 |
| Hypermanganesemia With Dystonia 1 |
|
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity, Polycy... |
OMIM:613280 |
| Joubert Syndrome 6 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:610688 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Hyperbilirubinemia, Heart block, Capilla... |
ORPHA:542323 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Decreased circulating antibody level, Interface hepatitis, Lymphopenia,... |
OMIM:243150 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:300861 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Scleritis, Cystoid macular edema, Mild proteinuria, Renal interstitial edema, Rena... |
ORPHA:91500 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... |
OMIM:143400 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... |
OMIM:616005 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... |
OMIM:616201 |
| Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Gastrointestinal hemorrhage, Portal hypert... |
ORPHA:64743 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... |
ORPHA:169154 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Gout, Nephropathy, Decreased glomerular filtration rate, Renal ... |
OMIM:162000 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin |
OMIM:618528 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:145750 |
| Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:144600 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lack of T cell function, Lymphopenia, Absent tonsils, Absen... |
ORPHA:277 |
| Cholera |
|
Hypotension, Hypokalemia, Abnormal blood ion concentration, Hypoglycemia, Hypovolemic shock, Hypo... |
ORPHA:173 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... |
OMIM:133100 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia |
OMIM:617638 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
| Trimethylaminuria |
|
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level |
OMIM:616740 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Hyperkalemia, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased... |
ORPHA:90044 |
| Reticular Dysgenesis |
|
Leukopenia, Anemia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus, Abnor... |
ORPHA:33355 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Hypertension, Re... |
ORPHA:90038 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Hy... |
OMIM:606176 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Decreased circulating antibody level, Hepatitis, Pancytopenia, Hemophagocytosis, Hepatomegaly, Ap... |
OMIM:300635 |
| Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:615767 |
| Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Anemia, Lymphedema, Secundum atrial septal defect, Leukocyte inclusion bo... |
OMIM:223350 |
| Late-Onset Isolated Acth Deficiency |
|
Hypotension, Orthostatic hypotension, Hyperuricemia, Normocytic anemia, Hyperkalemia, Type I diab... |
ORPHA:199299 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Reduced circulating interleukin 17A concentrati... |
OMIM:619632 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Impaired renal concentrating ability, Polyhydramnios, Hydrops fetalis, Renal salt wasting, Hypern... |
OMIM:602522 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level, Jaundice, Decreased proportion of CD4-positive T cells, Hep... |
OMIM:301045 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension, Hyponatremia |
ORPHA:91354 |
| Hepatocellular Carcinoma |
|
Hypotension, Anemia, Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Polycythemia, In... |
ORPHA:88673 |
| Lymphatic Malformation 7 |
|
Anemia, Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial sept... |
OMIM:617300 |
| Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level |
OMIM:152800 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating porphyrin concentration, Abnormal erythrocyte enzyme level, Increased erythr... |
ORPHA:100924 |
| Atrial Standstill 2 |
|
Hyperpepsinogenemia I, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia,... |
OMIM:615745 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
| Pseudo-Torch Syndrome 2 |
|
Pleural effusion, Abnormal renal corticomedullary differentiation, Ascites, Patent ductus arteriosus |
OMIM:617397 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiac arrest, Neonatal hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:212138 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Vesicoureteral reflux, Bifid ureter, Renal dysplasia, Renal agenesis, Decreased numbers of nephro... |
OMIM:617641 |
| Cocaine Intoxication |
|
Tubulointerstitial nephritis, Pulmonary edema, Acute kidney injury, Hematuria, Glomerulonephritis... |
ORPHA:90068 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
| Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypog... |
ORPHA:411593 |
| Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Hyperlysinuria, Renal amyloidosis, Abnormal renal tubule morphology... |
ORPHA:470 |
| Xanthinuria, Type I |
|
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis |
OMIM:278300 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating total IgM, Neutropenia, B lymphocytopenia, Absent circulating B cells, Decr... |
OMIM:619705 |
| Gitelman Syndrome |
|
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Pericardial effusion,... |
ORPHA:358 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
OMIM:614069 |
| Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... |
OMIM:615122 |
| Senior-Boichis Syndrome |
|
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Abnormal renal insterstitial morpho... |
ORPHA:84081 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... |
OMIM:115200 |
| Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis |
ORPHA:3327 |
| Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Decreased circulating total IgM, Monocytopenia, Decreased prop... |
OMIM:619802 |
| Mirage Syndrome |
|
Leukopenia, Anemia, Hyperkalemia, Intracranial hemorrhage, Lymphopenia, Hypoglycemia, Thrombocyto... |
OMIM:617053 |
| Whipple Disease |
|
Hypotension, Anemia, Insulin resistance, Pericarditis, Myocardial infarction, Gastrointestinal he... |
ORPHA:3452 |
| Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, Decreased circulating total IgM, T lymphocytopenia, Lymphopeni... |
OMIM:619510 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
| Renal Hypoplasia, Bilateral |
|
Anemia, Glycosuria, Hyperkalemia, Hypertension, Hyponatremia |
ORPHA:97362 |
| Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased proportion of cl... |
OMIM:619652 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Stage 5 chronic kidney disease, Glomerular basement membrane disruption, Thickened glomerular bas... |
OMIM:609057 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Tubulointerstitial nephritis, Atrophic gastritis, Iridocyclitis, Hepatitis, Rheumatoid arthritis,... |
ORPHA:227990 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Ataxia-Telangiectasia |
|
Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG2 leve... |
OMIM:208900 |
| Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia |
ORPHA:1930 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... |
OMIM:603554 |
| Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Anemia, Normocytic anemia, Hyperbilirubinemia, Elevated circulating cr... |
OMIM:611881 |
| Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Tako-Tsubo Cardiomyopathy |
|
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... |
ORPHA:66529 |
| Focal Segmental Glomerulosclerosis 1 |
|
Edema, Anemia, Hypertension |
OMIM:603278 |
| Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
| Familial Hypoaldosteronism |
|
Hypotension, Hypovolemia, Hyperkalemia, Increased circulating renin level, Hyponatremia, Orthosta... |
ORPHA:427 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis, Postnatal growth retardation |
OMIM:617219 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:95716 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Cerebral vasculitis, Leukocytosis, Hyponatremia |
ORPHA:83601 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Tubulointerstitial nephritis, Atrophic gastritis, Iridocyclitis, Hepatitis, Rheumatoid arthritis,... |
ORPHA:227982 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia,... |
ORPHA:348 |
| Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating alpha-fetoprote... |
OMIM:617049 |
| Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia, Hypoplastic spleen |
OMIM:185070 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Vasculitis in th... |
OMIM:619381 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Hyperbilirubinemia, Pulmonic stenosis, Elevated circulating creatine kinase c... |
OMIM:614300 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... |
ORPHA:276 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia, Hyponatremia |
OMIM:608688 |
| Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Chronic active hepatitis, Erythema nodosum, Abnormality of the kidn... |
ORPHA:289390 |
| Hemochromatosis, Type 2B |
|
Anemia, Congestive heart failure, Splenomegaly, Cardiomyopathy |
OMIM:613313 |
| Immunodeficiency 43 |
|
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... |
OMIM:241600 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:235555 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormal serum bile acid concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Extram... |
ORPHA:79303 |
| Infant Botulism |
|
Hypotension, Cardiac arrest, Hypertension, Hyponatremia |
ORPHA:178478 |
| Arima Syndrome |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy... |
OMIM:243910 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Autoimmune thrombocytopen... |
OMIM:613011 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Anemia, Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morp... |
ORPHA:3405 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hypoglycemic seizures, Hyperbilirubinemia |
OMIM:609734 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Hyperbilirubinemia, Congestive heart failure, Hypertyrosinemia, Hypoglycemia,... |
OMIM:617156 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Neonatal death, Hepatosplenomegaly |
OMIM:273680 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
| Timothy Syndrome |
|
Hypocalcemia, Bradycardia, Prolonged QT interval, Hypoglycemia |
OMIM:601005 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia, Hematochezia, Decreased serum bile acid concentration |
OMIM:214950 |
| Legionnaires Disease |
|
Hypotension, Lymphopenia, Pericarditis, Arrhythmia, Hyponatremia, Myocarditis, Splenomegaly |
ORPHA:549 |
| Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, ... |
OMIM:226990 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Increased circulating IgA level, Dec... |
OMIM:618048 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:613986 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating IgG2 level, Absent spec... |
OMIM:102700 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Hypogonadism, Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
| Lambert Syndrome |
|
Intrahepatic biliary atresia, Jaundice, Cholestasis, Decreased circulating antibody level |
ORPHA:1296 |
| Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Anemia, Hypertension, Hyponatremia, Tachycardia |
ORPHA:79473 |
| Congenital Gerbode Defect |
|
Pulmonary arterial hypertension, Pedal edema, Systolic heart murmur, Bacterial endocarditis, Vent... |
ORPHA:99095 |
| Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen |
OMIM:602361 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen... |
OMIM:600802 |
| Acute Adrenal Insufficiency |
|
Hypotension, Hyperuricemia, Hypovolemia, Normocytic anemia, Hyperkalemia, Increased circulating r... |
ORPHA:95409 |
| Glycogen Storage Disease Iv |
|
Polyhydramnios, Hydrops fetalis, Hepatosplenomegaly, Edema, Skeletal muscle atrophy, Portal hyper... |
OMIM:232500 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
| Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:104200 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Hypoglycemia, Portal hy... |
OMIM:251880 |
| Alg8-Cdg |
|
Thrombocytopenia, Anemia, Hyponatremia |
ORPHA:79325 |
| Alpha-Thalassemia |
|
Anemia, Hydrops fetalis, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Micr... |
ORPHA:846 |
| Vesicoureteral Reflux 3 |
|
Polyhydramnios, Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicour... |
OMIM:613674 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:79302 |
| Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Polyhydramnios, Abnormality of the kidney, Polycystic kidney dysplasia,... |
ORPHA:1505 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal corticomedullary cysts, Renal insufficiency, Polyhydramnios |
OMIM:219730 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Cryptorchidism, Decreased circulating antibody level |
OMIM:616910 |
| Cranioectodermal Dysplasia 3 |
|
Nephronophthisis, Short stature, Rhizomelia, Stage 5 chronic kidney disease |
OMIM:614099 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy |
OMIM:618839 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
| Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Pancyto... |
ORPHA:507 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia |
ORPHA:95715 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Leukopenia, Anemia, Pulmonary embolism, Hemolytic anemia, Unconjugated... |
ORPHA:447 |
| Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kidney disease, Reduc... |
OMIM:610188 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Epistaxis, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:211600 |
| Pearson Marrow-Pancreas Syndrome |
|
Anemia, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Sideroblastic ane... |
OMIM:557000 |
| Immunodeficiency 67 |
|
Liver abscess, Increased circulating IgE level, Transient neutropenia |
OMIM:607676 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyperammonemia, Bradycardia |
OMIM:614702 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Anemia, Neonatal death, Nonimmune hydrops fetalis |
OMIM:618835 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Growth delay, Recurrent otitis media, Absence of renal corticomedullary differe... |
OMIM:619758 |
| Cranioectodermal Dysplasia 1 |
|
Tubulointerstitial nephritis, Rhizomelia, Stage 1 chronic kidney disease, Stage 5 chronic kidney ... |
OMIM:218330 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... |
OMIM:614022 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Reduced natural killer cell activity, Aplasia of the eccrine swea... |
OMIM:300291 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Decreased circulating an... |
OMIM:618108 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Tubulointerstitial nephritis, Aminoaciduria, Cholangitis, Lacticaciduria, Neonatal death |
OMIM:124000 |
| Illum Syndrome |
|
Bradycardia, Calcinosis |
OMIM:208155 |
| Heme Oxygenase 1 Deficiency |
|
Asplenia, Increased circulating interleukin 6 concentration, Hemolytic anemia, Coombs-positive he... |
OMIM:614034 |
| Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:203780 |
| Shigellosis |
|
Microangiopathic hemolytic anemia, Abnormal blood ion concentration, Hypoglycemia, Hypovolemic sh... |
ORPHA:810 |
| Lethal Congenital Contracture Syndrome 2 |
|
Polyhydramnios, Ventricular septal defect, Dilated cardiomyopathy, Edema, Skeletal muscle atrophy... |
OMIM:607598 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hypothyroidism, Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, ... |
OMIM:606367 |
| Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia, Hypoglycemia |
OMIM:619075 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Macrocytic anemia, Dehydration, Thrombocytopenia, Cardiomyopathy |
ORPHA:27 |
| Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
| Interstitial Lung Disease 2 |
|
Increased circulating antibody level, Cirrhosis |
OMIM:178500 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Neonatal hyperbilirubinemia, Insulin resistance |
ORPHA:73272 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level |
OMIM:215250 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Decreased circulating total IgM, Lymphopenia, Decreased circul... |
OMIM:619752 |
| Familial Glucocorticoid Deficiency |
|
Hypotension, Ketotic hypoglycemia, Hyperkalemia, Hypertrophic cardiomyopathy, Hypoglycemic seizur... |
ORPHA:361 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
| Sarcoidosis |
|
Tubulointerstitial nephritis, Bronchiectasis, Erythema nodosum, Keratoconjunctivitis sicca, Uveit... |
ORPHA:797 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Epistaxis, Anemia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:616176 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... |
OMIM:617222 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Antenatal intracerebral hemorrhage, Decreased plasma free carnitine, N... |
OMIM:608836 |
| Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Thyroiditis, Keratoconjunctivitis sicca, Myositis, Palpebral edema,... |
ORPHA:79078 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... |
OMIM:619662 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:614878 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hepatosplenomegaly, Hypochromic microcyti... |
OMIM:259720 |
| Systemic Lupus Erythematosus |
|
Malar rash, Arthritis, Nephritis, Pericarditis, Lupus nephritis |
OMIM:152700 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Hemolytic anemia, Hyperkalemia, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:608885 |
| Ataxia-Telangiectasia |
|
Abnormal testis morphology, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymu... |
ORPHA:100 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Decreased circulating antibody level, Pancytopenia, Abnormally low T cell receptor excision circl... |
OMIM:619767 |
| Alport Syndrome |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation... |
ORPHA:63 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... |
ORPHA:35078 |
| Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia, Atrial septal defect |
ORPHA:51208 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Lymphadenopathy, Hemoph... |
OMIM:301078 |
| Bartter Syndrome Type 4 |
|
Hypokalemia, Increased circulating renin level, Hypertension, Hypochloremia, Hyponatremia, Hypoma... |
ORPHA:89938 |
| Addison Disease |
|
Hypotension, Hyperuricemia, Normocytic anemia, Hyperkalemia, Increased circulating renin level, T... |
ORPHA:85138 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:601847 |
| Neonatal Lupus Erythematosus |
|
Anemia, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytopenia, Heart block, Abnorma... |
ORPHA:398124 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Dehydration, Thrombocytopenia, Neutropenia, Splenomegaly, Cardiomyopathy |
ORPHA:79312 |
| Sézary Syndrome |
|
Abnormal immunoglobulin level, Lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormal lymphocyte m... |
ORPHA:3162 |
| Pituitary Apoplexy |
|
Hypotension, Hypertension, Hypoglycemia, Hyponatremia, Normochromic anemia |
ORPHA:95613 |
| Sheehan Syndrome |
|
Hypoglycemia, Palpitations, Hyponatremia, Orthostatic hypotension, Bradycardia, Normochromic anemia |
ORPHA:91355 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... |
OMIM:600740 |
| Joubert Syndrome 2 |
|
Nephronophthisis, Renal insufficiency, Renal cyst |
OMIM:608091 |
| Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Hypokalemia, Low-to-normal blood pressure, Increased circulatin... |
OMIM:601678 |
| Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
| Boutonneuse Fever |
|
Leukopenia, Lymphadenopathy, Increased circulating IgM level, Cervical lymphadenopathy, Thrombocy... |
ORPHA:83313 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Vitreous hemorrhage, Cerebral hemorrhage, Hyperbilirubinemia, Intracranial he... |
ORPHA:464321 |
| Syndromic Diarrhea |
|
Hypothyroidism, Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Panhypogammaglobulinemia, ... |
ORPHA:84064 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased response to growth hormone stimulation test, Decreased circulating total IgM, Abnormal ... |
OMIM:615577 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level, Lymphadenopathy, Type I diabetes mellitus |
ORPHA:69126 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Thymic Tumor |
|
Neoplasm of the thymus, Neuroendocrine neoplasm, Mediastinal lymphadenopathy, Dysgammaglobulinemia |
ORPHA:100100 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Thyroiditis, Autoimmune hemolytic anemia, Increased circulating IgA level, Hep... |
OMIM:617388 |
| Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Reticulocytopenia, Erythroid hypoplasia, Pancytopenia, Decreased... |
OMIM:275350 |
| Good Syndrome |
|
Thymoma, Anemia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus, Diabetes... |
ORPHA:169105 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells |
OMIM:619693 |
| Congenital Enterovirus Infection |
|
Hypotension, Leukopenia, Anemia, Myocarditis, Polyhydramnios, Hydrops fetalis, Abnormal macrophag... |
ORPHA:292 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Increased red blood cell mass, Cerebral hemorrhage,... |
OMIM:263400 |
| Immunodeficiency 9 |
|
Hypoplasia of the thymus |
OMIM:612782 |
| Chédiak-Higashi Syndrome |
|
Anemia, Hypertriglyceridemia, Neutropenia, Pancytopenia, Hepatosplenomegaly, Epistaxis, Increased... |
ORPHA:167 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Hemochromatosis, Type 3 |
|
Anemia, Neutropenia, Lymphopenia, Cardiomyopathy |
OMIM:604250 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hyperbilirubinemia, Hematochezia, Splenomegaly |
OMIM:613812 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension, Hyperkalemia, Increased circulating renin level, Neonatal hypoglycemia, Hyponatremia |
ORPHA:90791 |
| Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Hypovolemia, Glycosuria, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevat... |
ORPHA:411634 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level |
OMIM:616576 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Bradycardia |
OMIM:614654 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
| Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... |
ORPHA:90041 |
| Beta-Thalassemia |
|
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcy... |
ORPHA:848 |
| Immunodeficiency 22 |
|
Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA lev... |
OMIM:615758 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Glycosuria, Moderate postnatal growth retardation, Nephropath... |
ORPHA:69076 |
| Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Decr... |
ORPHA:90362 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytopenia, Thrombocyt... |
OMIM:617780 |
| Fumarase Deficiency |
|
Hyperbilirubinemia, Polycythemia |
OMIM:606812 |
| X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
| Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia, Total anomalous pulmonary venous return |
OMIM:618313 |
| Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hypothyroidism, Decreased circulating antibody level, Neutropenia in presence of anti-neutropil a... |
OMIM:615952 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration |
OMIM:614886 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:607765 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension, Hyperkalemia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Recurrent hypog... |
ORPHA:293978 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Splenomegaly, Hypothyroidism, Decreased circulating total IgM, B lymphocytop... |
OMIM:614700 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Glycosuria, Conjugated hyperbilirubinemia |
OMIM:613404 |
| Graft Versus Host Disease |
|
Hyperbilirubinemia, Hemophagocytosis, Tachycardia, Hepatosplenomegaly |
ORPHA:39812 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Pyelonephritis, Nephritis, Renal dysplasia |
OMIM:314300 |
| Complement Factor I Deficiency |
|
Septic arthritis, Recurrent urinary tract infections, Pyelonephritis, Recurrent sinusitis, Recurr... |
OMIM:610984 |
| Thyrocerebroretinal Syndrome |
|
Nephritis |
OMIM:274240 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hypoplasia of the thymus, Jaundice, Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism |
OMIM:214110 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Decreased circulating total IgM, Increased circulating IgE lev... |
OMIM:243700 |
| Immunodeficiency 47 |
|
Leukopenia, Chronic decreased circulating total IgG, Hepatic fibrosis, Cirrhosis, Decreased circu... |
OMIM:300972 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome |
OMIM:617182 |
| Pediatric Systemic Lupus Erythematosus |
|
Malar rash, Nephrotic syndrome, Discoid lupus rash, Skin rash, Arthritis, Pericardial effusion, H... |
ORPHA:93552 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys |
OMIM:620047 |
| Griscelli Syndrome |
|
Leukopenia, Decreased circulating antibody level, Hepatitis, Jaundice, Abnormality of neutrophils... |
ORPHA:381 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Bradycardia, Glucose intolerance, Impaired glucose tolerance |
OMIM:614407 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... |
OMIM:618278 |
| Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased circulating antibody level,... |
ORPHA:449432 |
| Abetalipoproteinemia |
|
Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Congestive heart failure, Re... |
ORPHA:14 |
| Pearson Syndrome |
|
Hypothyroidism, Anemia, Abnormality of the liver, Decreased response to growth hormone stimulatio... |
ORPHA:699 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
| Fabry Disease |
|
Anemia, Lymphedema, Transient ischemic attack, Left ventricular hypertrophy, Angina pectoris, Ven... |
OMIM:301500 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Wilson Disease |
|
Anemia, Hemolytic anemia, Glycosuria, Decreased circulating ceruloplasmin concentration, Increase... |
OMIM:277900 |
| Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Glucose intolerance, Neo... |
ORPHA:552 |
| Adenohypophysitis |
|
Orthostatic hypotension, Normochromic anemia, Hyponatremia |
ORPHA:95512 |
| Tropical Endomyocardial Fibrosis |
|
Pedal edema, Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ve... |
ORPHA:75565 |
| Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia |
OMIM:612776 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Rhizomelia, Short stature, Renal dysplasia, Acute kidney injury, Stage 5 chronic kidney disease, ... |
OMIM:266920 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
ORPHA:90790 |
| Tularemia |
|
Anemia, Increased circulating antibody level, Abnormal nasopharyngeal adenoid morphology, Lymphad... |
ORPHA:3392 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypokalemia, Hypertension, Hyponatremia, Hypocalcemia, Splenomegaly |
OMIM:617913 |
| Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Hypotension, Anemia, Pulmonary arterial hypertension, Hypovolemia, Hyperspl... |
ORPHA:275761 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Hypogonadism, Decreased circulating antibody level, Erythroid hypoplasia, Testicular atro... |
OMIM:618165 |
| Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Nephritis, Proteinuria |
ORPHA:182050 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Hypocalcemia, Hyperkalemia, Hypertension, Diabetes mellitus, Hypertensive crisi... |
ORPHA:544482 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
| Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Panhypogammaglobulinemia, Lack of T cell function, Decreased lymphocyte proliferation in response... |
ORPHA:572 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
| Autoimmune Hepatitis |
|
Cirrhosis, Fulminant hepatitis, Increased circulating antibody level, Sclerosing cholangitis, Dif... |
ORPHA:2137 |
| Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Hypokalemia, Low-to-normal blood pressure, Increased circulatin... |
OMIM:241200 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Decreased circulating IgA le... |
ORPHA:275 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Hypertension, Hyponatremia |
ORPHA:1764 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Dyschondrosteosis And Nephritis |
|
Mesomelic short stature, Nephritis |
OMIM:127350 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hypothyroidism, Decreased circulating antibody level, Hepatosplenomegaly, Lymphadenopathy, Microc... |
OMIM:619750 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Polyhydramnios, Hydroureter, Megacystis, Neonatal death, Fetal megacystis, Hydronephrosis |
OMIM:619362 |
| Reynolds Syndrome |
|
Calcinosis, Hyperbilirubinemia, Raynaud phenomenon, Lymphopenia, Gastrointestinal hemorrhage, Pal... |
OMIM:613471 |
| Panhypophysitis |
|
Orthostatic hypotension, Normochromic anemia, Hyponatremia |
ORPHA:95513 |
| Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
| Al Amyloidosis |
|
Anemia, Howell-Jolly bodies, Reduced left ventricular ejection fraction, Abnormal EKG, Abnormal P... |
ORPHA:85443 |
| Fructose Intolerance, Hereditary |
|
Hyperuricemia, Glycosuria, Hypophosphatemia, Hyperbilirubinemia, Hypoglycemia, Gastrointestinal h... |
OMIM:229600 |
| Yellow Fever |
|
Reduced left ventricular ejection fraction, Hyperbilirubinemia, Neutrophilia, Supraventricular ar... |
ORPHA:99829 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:90673 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, ... |
ORPHA:540 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
| Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
| Thymic Aplasia |
|
Hypothyroidism, T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Coo... |
ORPHA:83471 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
ORPHA:69665 |
| Mirizzi Syndrome |
|
Hyperbilirubinemia, Tachycardia |
ORPHA:521219 |
| Caroli Syndrome |
|
Leukopenia, Hypersplenism, Hyperbilirubinemia, Leukocytosis, Portal hypertension, Hematemesis, Th... |
ORPHA:480520 |
| Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Neonatal hyperbilirubinemia |
ORPHA:293939 |
| Tempi Syndrome |
|
Increased hematocrit, Increased circulating IgG level, Polycythemia |
ORPHA:284227 |
| Atresia Of Urethra |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Renal dysplasia, Hydroureter, Bladder ... |
ORPHA:105 |
| Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Bone marrow hypocell... |
ORPHA:3261 |
| Lathosterolosis |
|
Abnormal circulating cholesterol concentration, Anisopoikilocytosis, Hyperbilirubinemia, Hepatosp... |
OMIM:607330 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Erythroid hypoplasia, Hepatosplenomegaly, Lymphopen... |
OMIM:612541 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
| Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Hypothyroidism, Hyperthyroidism |
ORPHA:48377 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypotension, Hypovolemia, Hyperkalemia, Neonatal hypoglycemia, Shock, Hypochloremia, Hyponatremia |
ORPHA:90794 |
| Alg12-Cdg |
|
B lymphocytopenia, Recurrent hypoglycemia, Hyponatremia, Hypocholesterolemia, Thrombocytopenia, H... |
ORPHA:79324 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Elevated circulating creatine kinase concentration, Hypertrophic ca... |
OMIM:618775 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Heart murmur, Hyperbilirubinemia, Hypocalcemia, Intracranial hemorrhage, Thrombocytopenia |
ORPHA:163979 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia |
OMIM:206100 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia, Nonimmune hydrops fetalis |
OMIM:618838 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
| Degcags Syndrome |
|
Patent ductus arteriosus, Abnormal renal cortex morphology, Polyhydramnios, Rhinitis, Abnormal re... |
OMIM:619488 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Neutropenia, Biliary tract abnormality, Cholangitis, Viral hepatitis, C... |
OMIM:209920 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy |
OMIM:618815 |
| Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Multilobulated spleen, Cryptorchidism |
OMIM:601186 |
| Igg4-Related Aortitis |
|
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Increa... |
ORPHA:449400 |
| Cystic Echinococcosis |
|
Splenic cyst, Hyperbilirubinemia, Eosinophilia |
ORPHA:400 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
| Glutamine Deficiency, Congenital |
|
Hyperammonemia, Bradycardia, Hypoglutaminemia |
OMIM:610015 |
| Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
| Thrombocytopenia 5 |
|
Epistaxis, Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Cirrhosis, Neoplasm of the liver, Biliary tract abnormality, Diabetes ... |
ORPHA:90003 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypotension, Hypovolemia, Abnormal circulating cholesterol concentration, Hyperkalemia, Increased... |
ORPHA:168558 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Elevated circulating creatine kinase concentration, Palpitations, Second degree atrioven... |
OMIM:616812 |
| Igg4-Related Thyroid Disease |
|
Hypothyroidism, Increased circulating IgG4 level, Retroperitoneal fibrosis, Nodular goiter, Scler... |
ORPHA:64744 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:168577 |
| Plasminogen Deficiency, Type I |
|
Conjunctivitis, Periodontitis, Nephrolithiasis, Nephritis |
OMIM:217090 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polycystic kidney dyspl... |
ORPHA:731 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypotension, Hypovolemia, Abnormal circulating cholesterol concentration, Hyperkalemia, Increased... |
ORPHA:289548 |
| Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Nep... |
OMIM:301050 |
| Acute Intermittent Porphyria |
|
Tachycardia, Hypertension, Hyponatremia |
ORPHA:79276 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Decreased circulating total IgM, Decreased circulating IgA level, Hepatomegaly, Splenomeg... |
OMIM:612301 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Asplenia, Cirrhosis, Hypothyroidism, Hyperthyroidism, Hepatitis, Exocrine pancreatic ins... |
OMIM:269200 |
| Cornelia De Lange Syndrome 1 |
|
Vesicoureteral reflux, Short stature, Renal cyst, Reduced renal corticomedullary differentiation,... |
OMIM:122470 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Concentric hypertrophic cardiomyopathy, Dilated cardiomyopathy, Elevated circulating creatine kin... |
OMIM:610505 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia |
OMIM:614887 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count, Decreased circulating IgA level, Increased ... |
OMIM:242860 |
| Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Glycosuria, Decreased plasma carnitine, Hypophosphatemia, Hypokalemi... |
OMIM:219800 |
| Gaucher Disease, Type I |
|
Pulmonary arterial hypertension, Anemia, Hypersplenism, Hypertension, Pancytopenia, Epistaxis, Mi... |
OMIM:230800 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia, Hypercholeste... |
ORPHA:90674 |
| Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... |
ORPHA:906 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Neonatal hypoglyc... |
OMIM:261740 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hyperbilirubinemia, Bradycardia |
OMIM:218700 |
| Feingold Syndrome Type 1 |
|
Patent ductus arteriosus, Vesicoureteral reflux, Short stature, Renal dysplasia, Abnormality of t... |
ORPHA:391641 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
| Parenteral Nutrition-Associated Cholestasis |
|
Abnormal circulating fatty-acid concentration, Hyperlipidemia, Portal hypertension, Splenomegaly,... |
ORPHA:567983 |
| Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hemolytic an... |
ORPHA:79277 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome |
ORPHA:542306 |
| Ogden Syndrome |
|
Pulmonary arterial hypertension, Torsade de pointes, Supraventricular tachycardia, Hyperbilirubin... |
OMIM:300855 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Insulin resistance, Elevated circulating creatine kinase concentration, Tachyca... |
OMIM:613327 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Diabetes mellitus, Bradycardia, Arrhythmia |
OMIM:609286 |
| Holoprosencephaly |
|
Diabetes mellitus, Hypoglycemia, Arrhythmia, Hyponatremia, Abnormality of the spleen |
ORPHA:2162 |
| Mogs-Cdg |
|
Hypothyroidism, Decreased circulating total IgM, Decreased circulating antibody level, Hydrocele ... |
ORPHA:79330 |
| Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
| Tetanus |
|
Tachycardia, Bradycardia, Hypertension, Elevated circulating creatine kinase concentration |
ORPHA:3299 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Lymphopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombo... |
OMIM:615934 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus |
OMIM:617022 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Panhypogammaglobulinemia, Neutropenia, B lymphocytopenia, Decreased circulating antibody level, A... |
OMIM:601495 |
| Prolidase Deficiency |
|
Anemia, Prolonged neonatal jaundice, Increased circulating antibody level, Hepatomegaly, Thromboc... |
OMIM:170100 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Anemia, Dilated cardiomyopathy, Small vessel vasculitis |
OMIM:608068 |
| Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... |
ORPHA:330001 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hypothyroidism, Hepatitis, Hypersplenism, Type I diabetes mellitus, Pancytopenia, Hashimoto thyro... |
OMIM:613385 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Increased circulating antibody level, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombo... |
OMIM:617591 |
| Tuberous Sclerosis 2 |
|
Renal cyst, Renal cell carcinoma, Renal angiomyolipoma, Absence of renal corticomedullary differe... |
OMIM:613254 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia |
OMIM:618282 |
| Gaucher Disease Type 1 |
|
Leukopenia, Cirrhosis, Anemia, Increased circulating antibody level, Hypersplenism, Pancytopenia,... |
ORPHA:77259 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Anemia, Pleural empyema, Congestive heart failure, Pleural effus... |
ORPHA:67 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Bradycardia, Tachycardia |
ORPHA:70587 |
| Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
| Dyskeratosis Congenita, Digenic |
|
Anemia, Decreased circulating total IgM, Decreased testicular size, Decreased circulating IgA lev... |
OMIM:620040 |
| Pyoderma Gangrenosum |
|
Increased circulating antibody level, Myeloid leukemia |
ORPHA:48104 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Female hypogonadism, Asplenia, Hypothyroidism, Decreased circulating aldosterone level, Chronic a... |
OMIM:240300 |
| Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Hydrocele testis, Lymphopenia, Hepatomegaly, Splenomegaly |
OMIM:605309 |
| Multiple Myeloma |
|
Anemia, Decreased circulating antibody level, Lymphadenopathy, Increased circulating IgA level, I... |
ORPHA:29073 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Polysplenia, Malforma... |
OMIM:208540 |
| Cln3 Disease |
|
T-wave inversion, Bradycardia, Vacuolated lymphocytes |
ORPHA:228346 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Elevated circulating phytanic acid concentration, Heart murmur, Increased circulating very long-c... |
OMIM:614866 |
| Cardiac Valvular Dysplasia 1 |
|
Patent foramen ovale, Hydrops fetalis, Ventricular septal defect, Valvular pulmonary stenosis, Mi... |
OMIM:212093 |
| Caroli Disease |
|
Abnormal circulating alpha-fetoprotein concentration, Leukocytosis, Portal hypertension, Splenome... |
ORPHA:53035 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Orthostatic hypotension, Portal hypertension, Conjugate... |
ORPHA:186 |
| Liver Disease, Severe Congenital |
|
Leukopenia, Anemia, Hyperalaninemia, Systolic heart murmur, Lymphocytosis, Hyperbilirubinemia, El... |
OMIM:619991 |
| Japanese Encephalitis |
|
Neutrophilia, Hyponatremia |
ORPHA:79139 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Type I diabetes mellitus, Autoimmune hem... |
ORPHA:436252 |
| Angiostrongyliasis |
|
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... |
ORPHA:74 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypothyroidism, Anemia, Decreased circulating antibody level, Thrombocytosis, Hepatomegaly, Iron ... |
OMIM:226300 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Malformation of the hepatic ductal plate, Cholestasis, Hepatomegaly, ... |
OMIM:615415 |
| D-Glyceric Aciduria |
|
Bradycardia, Hypoglycemia, Nonketotic hyperglycinemia |
OMIM:220120 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Hypogonadism, Type II diabetes mellitus, Elevated circulating fo... |
OMIM:602668 |
| Simple Cryoglobulinemia |
|
Nephrotic syndrome, Abnormality of the kidney, Arthritis, Membranoproliferative glomerulonephriti... |
ORPHA:91139 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Patent ductus arteriosus, Nephrotic syndrome, Enlarged kidney, Nephritis, ... |
OMIM:617303 |
| Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Eosinophilia, Thrombocy... |
ORPHA:90045 |
| Digeorge Syndrome |
|
Hypothyroidism, Anemia, Hypoplasia of the thymus, Hydrocele testis, Hepatic steatosis, Abnormalit... |
OMIM:188400 |
| Aneurysm Of Sinus Of Valsalva |
|
Bacterial endocarditis, Heart murmur, Congestive heart failure, Aortic regurgitation, Edema |
ORPHA:1054 |
| 22Q11.2 Deletion Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Hyperthyroidism, Impaired T cell function, Hypoparathyr... |
ORPHA:567 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Bradycardia, Dilated cardi... |
OMIM:610768 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Decreased T cell activation, Defective T cell proliferation, Increased circulating IgE level, Thr... |
OMIM:618213 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Decreased circulating antibody level, Sideroblastic anemia, Hypochromic microc... |
OMIM:616084 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Anemia, Unconjugated hyperbilirubinemia, Pancytopenia, Hypoglycemia, Portal hypertension, Hypocal... |
OMIM:613658 |
| Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Decreased circulating IgA level, Cryptorchidism |
OMIM:616638 |
| Icf Syndrome |
|
Abnormality of neutrophils, Anemia, Lymphopenia, Decreased circulating antibody level |
ORPHA:2268 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
| Sepsis In Premature Infants |
|
Hypotension, Anemia, Tachycardia, Elevated circulating C-reactive protein concentration, Leukocyt... |
ORPHA:90051 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Patent ductus arteriosus, Anuria, Pyelonephritis, Oligohydramni... |
OMIM:619351 |
| Selective Igm Deficiency |
|
Lymphadenitis, Decreased circulating total IgM, Thyroid carcinoma, Neutropenia in presence of ant... |
ORPHA:331235 |
| Heart Block, Congenital |
|
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... |
OMIM:234700 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hypoplasia of the thymus, Accessory spleen, Adrenal hypoplasia |
OMIM:613177 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cirrhosis, Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Cholestasis, I... |
ORPHA:562639 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating IgA level, Hepatomegaly, Decreased circulating antibody level |
OMIM:606056 |
| Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cell... |
ORPHA:443811 |
| Common Variable Immunodeficiency |
|
Abnormality of the liver, Hemolytic anemia, Decreased circulating antibody level, Lymphopenia, Au... |
ORPHA:1572 |
| Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Epistaxis, Thrombocytopenia, Neutrop... |
ORPHA:88 |
| Thrombocytopenia 1 |
|
Increased circulating IgE level, Increased circulating IgA level, Congenital thrombocytopenia, De... |
OMIM:313900 |
| Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Abnormal T cell subset distribution, Reduced natural killer cell count, Decreased circulating tot... |
ORPHA:221139 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia |
OMIM:618426 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... |
OMIM:300967 |
| Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Anemia, Hyponatremia, Hypophosphatemia, Hypokalemia, Hypercholesterolemia, Hypoammonemia, Thrombo... |
ORPHA:534 |
| Wolfram Syndrome 2 |
|
Diabetes mellitus, Impaired collagen-induced platelet aggregation, Decreased circulating antibody... |
OMIM:604928 |
| Marburg Hemorrhagic Fever |
|
Hypotension, Reticulocytosis, Elevated circulating creatine kinase concentration, Pericarditis, S... |
ORPHA:99826 |
| Scalp-Ear-Nipple Syndrome |
|
Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephritis, Duplication of ren... |
ORPHA:2036 |
| Duodenal Neuroendocrine Tumor |
|
Hypotension, Increased hematocrit, Cardiogenic shock, Arrhythmia, Right ventricular failure, Palp... |
ORPHA:100076 |
| Thymoma |
|
Decreased circulating antibody level, Pure red cell aplasia, Abnormal lymphocyte proliferation, A... |
ORPHA:99867 |
| Alagille Syndrome 1 |
|
Vesicoureteral reflux, Multiple small medullary renal cysts, Renal tubular acidosis, Renal dyspla... |
OMIM:118450 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Increased circulating IgE level, Increased circulating IgM level, ... |
OMIM:615816 |
| Gaucher Disease Type 3 |
|
Mitral valve calcification, Pulmonary arterial hypertension, Anemia, Hydrops fetalis, Pericardial... |
ORPHA:77261 |
| Schimke Immunoosseous Dysplasia |
|
Anemia, Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:242900 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased circulating total IgM, Reduced natural killer cell acti... |
OMIM:301000 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased circulating IgG level, Decreased circulating total IgM, Liver abscess, Cholangitis, Vir... |
ORPHA:183675 |
| Isolated Biliary Atresia |
|
Splenomegaly, Conjugated hyperbilirubinemia |
ORPHA:30391 |
| Treacher-Collins Syndrome |
|
Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia, Cryptorchidism |
ORPHA:861 |
| Hardikar Syndrome |
|
Hypersplenism, Hyperbilirubinemia, Hypertension, Hepatosplenomegaly, Portal hypertension, Hematem... |
OMIM:301068 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Pulmonary arterial hypertension, Neutropenia, Neonatal hyperbilirubinemia, Mitral stenosis |
ORPHA:163956 |
| Ebola Hemorrhagic Fever |
|
Leukopenia, Increased circulating antibody level, Hepatitis, Lymphopenia, Acute pancreatitis, Thr... |
ORPHA:319218 |
| Eec Syndrome |
|
Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... |
ORPHA:1896 |
| Microsporidiosis |
|
Prostatitis, Myositis, Dehydration, Pneumonia, Lymphadenitis, Endocarditis, Osteomyelitis, Thyroi... |
ORPHA:2552 |
| Hand-Foot-Genital Syndrome |
|
Vesicoureteral reflux, Pyelonephritis, Hypospadias, Ureteropelvic junction obstruction, Renal ins... |
OMIM:140000 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... |
ORPHA:216694 |
| Cranioectodermal Dysplasia 2 |
|
Hypertension, Polysplenia, Hyperbilirubinemia, Splenomegaly |
OMIM:613610 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Short stature, Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Chronic kidney disease |
OMIM:208500 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Alveolar Echinococcosis |
|
Pancreatic cysts, Biliary cirrhosis, Anemia, Abnormality of adrenal morphology, Increased circula... |
ORPHA:284 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Hypothyroidism, Hepatic fibrosis, Anemia, Decreased circulating total IgM, Exocrine pancreatic in... |
OMIM:620005 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperglycemia, Hyperkalemia, Hyperlipidemia, Hyponatremia |
ORPHA:293987 |
| Carney Triad |
|
Anemia, Leiomyosarcoma, Hypertension, Gastrointestinal hemorrhage, Arrhythmia, Ascites, Tachycardia |
ORPHA:139411 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Hyperbilirubinemia, Congestive heart failure, Heart murmur |
OMIM:619475 |
| Insulin-Resistance Syndrome Type B |
|
Decreased circulating complement factor B concentration, Biliary cirrhosis, Leukopenia, Hyperinsu... |
ORPHA:2298 |
| Immunodeficiency 59 And Hypoglycemia |
|
Decreased circulating antibody level, Complete or near-complete absence of specific antibody resp... |
OMIM:233600 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level, Cryptorchidism |
ORPHA:457485 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Leukopenia, Myocarditis, Lymphopenia, Shock, Elevated circulating C-reactive protein... |
ORPHA:319213 |
| Proteus-Like Syndrome |
|
Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia, Splenomegaly |
ORPHA:2969 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Polysplenia, Abdominal situs inversus |
OMIM:605376 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Anemia, Decreased circulating antibody level, Type I diabetes mellitus, Pancytopenia,... |
OMIM:615688 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Pulmonary arterial hypertension, Bidirectional shunt, Tricuspid regurgitation, Left-to-right shun... |
OMIM:619534 |
| Bloom Syndrome |
|
Decreased circulating total IgM, Type II diabetes mellitus, Hepatic steatosis, Decreased circulat... |
OMIM:210900 |
| Primary Ciliary Dyskinesia |
|
Asplenia, Polysplenia |
ORPHA:244 |
| Right Atrial Isomerism |
|
Asplenia, Polysplenia, Abdominal situs ambiguus |
OMIM:208530 |
| Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Abdominal situs inversus, Cryptorchidism |
OMIM:619123 |
| Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Elevated circulating creatine kinase concentration, Abnormal left ve... |
ORPHA:99827 |
| Secondary Intestinal Lymphangiectasia |
|
Cirrhosis, Decreased circulating total IgM, Decreased circulating antibody level, Secondary hyper... |
ORPHA:90363 |
| Celiac Disease, Susceptibility To, 1 |
|
Thyroiditis, Type I diabetes mellitus, Delayed puberty, Thrombocytosis, Decreased circulating IgA... |
OMIM:212750 |
| Nail-Patella Syndrome |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Abnormality of the kidney, Arthritis, Hematur... |
ORPHA:2614 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
| Ciliary Dyskinesia, Primary, 1 |
|
Asplenia |
OMIM:244400 |
| Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating total IgM, Generalized lymphadenopathy, De... |
ORPHA:420741 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, Decreased circulating total IgM, Decreased lymphocyte proliferation in respons... |
ORPHA:508533 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Hepatic fibrosis, Hepatic steatosis, Decreased circulating IgA level, Hepatomegal... |
OMIM:212065 |
| Bloom Syndrome |
|
Acute myeloid leukemia, Decreased circulating total IgM, Decreased circulating antibody level, Ab... |
ORPHA:125 |
| Zygomycosis |
|
Endocarditis, Enterocolitis, Infectious encephalitis, Hepatitis, Fasciitis, Peritonitis, Nephriti... |
ORPHA:73263 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia, Neonatal hypoglycemia |
ORPHA:565624 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
| Sweeney-Cox Syndrome |
|
Asplenia, Bilateral cryptorchidism |
OMIM:617746 |
| Rift Valley Fever |
|
Anemia, Hepatitis, Jaundice, Increased circulating IgM level, Thrombocytopenia, Increased circula... |
ORPHA:319251 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hyperbilirubinemia, Hypertension |
OMIM:210710 |
| Mosaic Trisomy 9 |
|
Asplenia, Abnormal liver lobulation, Cryptorchidism |
ORPHA:99776 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating renin level, Hyperkalemia, Hypertension, Hypoglycemia, Hyponatremia |
OMIM:201750 |
| Wiedemann-Rautenstrauch Syndrome |
|
Increased serum testosterone level, Hypoplasia of the thymus, Cryptorchidism |
OMIM:264090 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Decreased circulating total IgM, Annular pancreas |
OMIM:618162 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Decreased response to growth hormone stimulation test, T lymphocytopenia, Abnormal B cell morphol... |
OMIM:618223 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Annular pancreas |
ORPHA:210122 |
| Visceral Steatosis, Congenital |
|
Neonatal death, Myocardial steatosis |
OMIM:228100 |
| Brucellosis |
|
Leukopenia, Anemia, Abnormality of the liver, Liver abscess, Hypersplenism, Lymphadenopathy, Thro... |
ORPHA:1304 |
| Homozygous Familial Hypercholesterolemia |
|
Sudden cardiac death, Abnormal tendon morphology, Tendon xanthomatosis, Heart murmur, Angina pect... |
ORPHA:391665 |
| Coccidioidomycosis |
|
Abnormality of the liver, Peritonitis, Lymphadenopathy, Increased circulating IgM level, Eosinoph... |
ORPHA:228123 |
| Sarcoidosis, Susceptibility To, 1 |
|
Increased circulating antibody level, Enlarged lacrimal glands, Abnormality of T cell physiology,... |
OMIM:181000 |
| Igg4-Related Ophthalmic Disease |
|
Abnormality of the anterior pituitary, Increased circulating IgG4 level, Retroperitoneal fibrosis... |
ORPHA:449563 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Monosomy 22 |
|
Hypochromic microcytic anemia, Aplasia of the thymus, Hepatosplenomegaly |
ORPHA:96123 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia, Hypertension |
OMIM:300896 |
| Glossopharyngeal Neuralgia |
|
Jaw claudication, Syncope, Bradycardia |
ORPHA:221098 |
| Igg4-Related Pachymeningitis |
|
Lymphadenitis, Nephritis, Sinusitis, Parotitis, Pancreatitis |
ORPHA:449427 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating interleukin... |
OMIM:256040 |
| Monosomy 18Q |
|
Hypothyroidism, Secondary growth hormone deficiency, Bilateral cryptorchidism, Decreased circulat... |
ORPHA:1600 |
| Tick-Borne Encephalitis |
|
Leukopenia, Abnormality of serum cytokine level, Increased circulating IgM level, Leukocytosis, T... |
ORPHA:297 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... |
OMIM:617062 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
| Feingold Syndrome 1 |
|
Asplenia, Polysplenia, Accessory spleen, Annular pancreas |
OMIM:164280 |
| Truncus Arteriosus |
|
Adrenocortical abnormality, Hypoplasia of the thymus |
ORPHA:3384 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating IgA level, Precocious puberty, Decreased circulating total IgM, Hypoparathy... |
ORPHA:369837 |
| Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Decreased circulating IgA level, Cryptorchidism, Aplastic anemia, D... |
OMIM:223370 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Facial telangiectasia, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectase... |
OMIM:600376 |
| Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Pancreatic fibrosis, Accessory spleen, Cryptorchidism, Cystic liver d... |
ORPHA:564 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Anemia, Telangiectasia, Mitral valve prolapse, Epistaxis, Mitral regurgitation, Hematochezia |
OMIM:175050 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Bradycardia, Hypertension, Tachycardia |
OMIM:614653 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia |
OMIM:619657 |
| Meckel Syndrome, Type 1 |
|
Asplenia, Malformation of the hepatic ductal plate, Bile duct proliferation, Accessory spleen, Cr... |
OMIM:249000 |
| Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Anemia, Bradycardia, Dilated cardiomyopathy, Abnormal blood ion concentration |
ORPHA:79404 |
| Proximal Spinal Muscular Atrophy |
|
Bradycardia |
ORPHA:70 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Abnormal circulating thyroglobulin level, Hypoglycemia, Bradycardia |
ORPHA:226307 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Asplenia, Biliary atresia, Polysplenia, Hepatomegaly, Abdominal situs inversus |
OMIM:306955 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia, Bradycardia, Neonatal hypoglycemia |
OMIM:617248 |
| Pseudoaminopterin Syndrome |
|
Asplenia, Cryptorchidism |
ORPHA:221120 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Biliary hyperplasia, Decreased circulating total IgM, B lymphocytopenia, S... |
ORPHA:83617 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Adrenal gland agenesis |
OMIM:273395 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Pulmonary lymphangiectasia, Annular pancreas |
OMIM:265380 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Abdominal situs inversus, Asplenia, Abdominal situs ambiguus |
OMIM:270100 |
| Proteus Syndrome |
|
Diabetes insipidus, Macroorchidism, Neoplasm of the thymus, Enlarged polycystic ovaries, Testicul... |
ORPHA:744 |
| Bohring-Opitz Syndrome |
|
Bradycardia |
ORPHA:97297 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Bradycardia, Pulmonary insufficiency |
OMIM:614437 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Cryptorchidism, Hydrocele testis, Decreased circulating antibody level |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Asplenia, Cryptorchidism, Hydrocele testis, Decreased circulating antibody level |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Cryptorchidism, Hydrocele testis, Decreased circulating antibody level |
ORPHA:261552 |
| Viss Syndrome |
|
Hypereosinophilia, Hypothyroidism, Increased circulating IgE level, Decreased circulating IgA lev... |
OMIM:619472 |
