Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Malaria |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hy... |
ORPHA:673 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia, Neutropenia |
OMIM:616949 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arrest, Leukopenia... |
ORPHA:99828 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia |
OMIM:614164 |
Refractory Celiac Disease |
|
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Increase... |
ORPHA:398063 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... |
OMIM:616860 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Respiratory insufficiency, Increased blood urea ni... |
OMIM:613845 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Respiratory... |
ORPHA:449285 |
Lymphangiectasia, Intestinal |
|
Malabsorption, Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Elevated circulating creatine kinase concentration, Tac... |
ORPHA:26793 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Malabsorption, Pulmonary embolism, Iron deficiency anemia, Abnormal intes... |
OMIM:226300 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia, Abnormal salivary gland morphology |
ORPHA:3225 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas... |
ORPHA:98870 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Apnea, Leukocytosis, Abnormal heart morphology, Bradycardia, Hypotension, Ne... |
ORPHA:391673 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... |
OMIM:237800 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Lymphadenopath... |
OMIM:603554 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Asthma, Leukopenia, Monocytosis, Bone marrow hypocellu... |
OMIM:616871 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
OMIM:603553 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Xerostom... |
ORPHA:85443 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Pericardial effusion, Pleural effusion, Abnormal small intestinal villus morphol... |
ORPHA:90362 |
Kimura Disease |
|
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Splenomegaly... |
OMIM:614470 |
Immunodeficiency 43 |
|
Lung abscess, Bronchiectasis, Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, ... |
OMIM:241600 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Abnormal gastric mucosa morphology, Multiple gastric polyps, Hypochr... |
ORPHA:2494 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Malabsorption |
ORPHA:1116 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Lymphad... |
OMIM:619644 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Diabetes mellitus, Dextrocardia, Abnormality of the dentition, Malabso... |
ORPHA:2315 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Colchicine Poisoning |
|
Respiratory distress, Hyponatremia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovole... |
ORPHA:31824 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine... |
OMIM:619281 |
Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo... |
ORPHA:167 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, T... |
ORPHA:71275 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia |
OMIM:179700 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Small bowel diverticula, Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration |
OMIM:221400 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Oral ulcer, Gingivitis, Acute l... |
ORPHA:486 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... |
OMIM:620152 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Splenomegaly, Di... |
OMIM:615895 |
Hereditary Coproporphyria |
|
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Respiratory insufficienc... |
ORPHA:79273 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hyperbiliru... |
OMIM:620010 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Apnea, Hypoglycemia |
OMIM:240200 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Respiratory failure requiring assisted ventilation, Neutrophilia, Elevated circulat... |
ORPHA:1930 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Wheezing, Hyperkalemia, Hypovolemic shock, Increased circulating renin level, Cough... |
ORPHA:171876 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Myocardial infarction, Malabsorption, Sp... |
ORPHA:3452 |
Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Cryptorchidism, Esophageal stricture, Thrombocytopenia, Hyperkalemia,... |
OMIM:617053 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Asthma, Recurrent pneum... |
OMIM:617585 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Pituitary adenoma, Adrenocor... |
ORPHA:91354 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure, Vacuolated l... |
OMIM:269920 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron deficiency anemi... |
ORPHA:1667 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Splenomegaly, Myocarditis, Respiratory insufficiency, Lymphadenopathy... |
ORPHA:549 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... |
ORPHA:682 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia,... |
ORPHA:2298 |
Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:91547 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin concentration, Re... |
ORPHA:100924 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia... |
ORPHA:2688 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Pancreatic lymphangiectasis,... |
OMIM:235255 |
Edinburgh Malformation Syndrome |
|
U-Shaped upper lip vermilion, Neonatal hyperbilirubinemia |
OMIM:129850 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Le... |
ORPHA:247353 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Normocytic anemia, Macrocytic anemia, Orthostatic hypotension, Hyponatremia, ... |
ORPHA:199299 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Portal hypertension, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity,... |
OMIM:616278 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Hyponatremia, Leukocytosis, Anterior open-bite malocclusion, Thrombocytopeni... |
ORPHA:83601 |
Nephrotic Syndrome, Type 1 |
|
Neonatal respiratory distress, Pyloric stenosis, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Neonatal respiratory distress, Cryptorchidism, Hyperkalemia, Hypertension, Glycosur... |
ORPHA:97362 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Myocardial infarction, Intestinal perforation, Thrombocytopenia, R... |
ORPHA:90038 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Neu... |
OMIM:612541 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total... |
ORPHA:90037 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Peptic ulcer, Myocardial infarction, Diabetes mellitus, Sp... |
ORPHA:90041 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Pancreatic lymphangiectasis,... |
ORPHA:1655 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Respiratory insufficiency, Increased total bilirubin |
ORPHA:2924 |
Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Cardiac amyloidosis, Abnormality of the tongue, Reduced left ventricular ... |
ORPHA:314652 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:203400 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Shigellosis |
|
Hyponatremia, Hypoglycemia, Pneumonia, Abscess, Intestinal perforation, Thrombocytopenia, Leukocy... |
ORPHA:810 |
Immunodeficiency 32B |
|
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Anemia, Impaired ... |
OMIM:226990 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hypoglycemic seizures, Hypotension, Neonatal hypoglycemia |
ORPHA:199296 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia, Cryptorchidism, Apnea, Respiratory insufficiency |
OMIM:608093 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Hypertensive crisis, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... |
OMIM:185000 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:620125 |
Cholera |
|
Hyponatremia, Tachycardia, Hypoglycemia, Tachypnea, Abnormal blood ion concentration, Hypovolemic... |
ORPHA:173 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Thin upper lip vermilion, Hypoglycemia, Secundum atrial septal defect, Wide mouth |
OMIM:608688 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Respiratory insufficiency, Anemia, Abnormal... |
ORPHA:848 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Respiratory insufficiency due to muscle weakness, Dyspnea, Xerostom... |
ORPHA:178478 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia, Giant hypertrophic gastritis |
OMIM:137280 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Cryptorchidism, Decreased response to growth hormone stimulation test, Neonatal hyperbilirubinemi... |
ORPHA:3363 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... |
OMIM:235700 |
Porphyria Variegata |
|
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Ileus, Hypertension, Res... |
ORPHA:79473 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension |
ORPHA:556037 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
Pituitary Apoplexy |
|
Hyponatremia, Hypoglycemia, Decreased response to growth hormone stimulation test, Elevated circu... |
ORPHA:95613 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hypotension |
OMIM:264350 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:177735 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... |
OMIM:619991 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Thrombocytopenia, Splenomegaly, ... |
ORPHA:64743 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension |
ORPHA:556030 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Cryptorchidism, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
Alg8-Cdg |
|
Hyponatremia, Macroglossia, Thrombocytopenia, Anemia |
ORPHA:79325 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia, Cholelithiasis |
OMIM:182900 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Hyperkalemia, Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Cryptorchidism, Neonatal asphyxia, Hyperkalemia, Adrenocorticotropic hormone excess... |
ORPHA:90791 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restrictive cardiomy... |
ORPHA:822 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Leukocyto... |
OMIM:618278 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne... |
OMIM:618892 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:616649 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea... |
OMIM:300539 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Pulmonary arterial hypertension, Increased total... |
OMIM:616299 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... |
ORPHA:90044 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Au... |
ORPHA:293978 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
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 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Hypoglycemia, Hypercalcemia, Myocardial... |
ORPHA:95409 |
Adenohypophysitis |
|
Hyponatremia, Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocortico... |
ORPHA:95512 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Increased total bilirubin |
OMIM:174050 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Hypertensive crisis, Diabetes mellitus, Brain abscess, Pneumonia,... |
ORPHA:544482 |
Panhypophysitis |
|
Hyponatremia, Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocortico... |
ORPHA:95513 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... |
OMIM:232800 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Hypoglycemia, Reduced circulating prolactin concentration,... |
ORPHA:91355 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Arrhythmia, Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Chronic Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Increased total bilirubin, Exertional dyspnea |
ORPHA:90036 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Epistaxis, Conjugated hyperbilirubinemia, Splenomegaly, Wheezing, Cholelithiasis, Fat malabsorption |
OMIM:211600 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Bone-marrow foam cells, Hypersplenism, ... |
ORPHA:275761 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Increased total bilirubin |
ORPHA:890 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate... |
ORPHA:98826 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Ketotic hypoglycemia, Cryptorchidism, Hyperkalemia, Testicular adrenal rest tumor, ... |
ORPHA:361 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Malabsorption |
OMIM:214900 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure, Hypoproteinemia, Anal atresia |
OMIM:260450 |
Brooke-Spiegler Syndrome |
|
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... |
ORPHA:79493 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora... |
ORPHA:464321 |
Alg12-Cdg |
|
Hyponatremia, Thin upper lip vermilion, Intestinal malrotation, Cryptorchidism, Muscular ventricu... |
ORPHA:79324 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Hematochezia, Protein-l... |
OMIM:618183 |
Melioidosis |
|
Shock, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spleen, Acute in... |
ORPHA:31202 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Gingiva... |
OMIM:259720 |
Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... |
ORPHA:231401 |
Addison Disease |
|
Hypoparathyroidism, Normocytic anemia, Orthostatic hypotension, Primary testicular failure, Hypon... |
ORPHA:85138 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... |
ORPHA:158048 |
Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Atrial septal defect, Macrocytic anemia, Ventricular septal defect, Clef... |
OMIM:612561 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Increased circulating renin lev... |
ORPHA:427 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis |
ORPHA:713 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem... |
ORPHA:86816 |
Nephronophthisis 2 |
|
Situs inversus totalis, Hyperkalemia, Elevated circulating creatinine concentration, Respiratory ... |
OMIM:602088 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Holoprosencephaly |
|
Hyponatremia, Median cleft lip, Hypoglycemia, Bilateral cleft lip, Diabetes mellitus, Ventricular... |
ORPHA:2162 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Thromboc... |
ORPHA:163979 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Tachypnea, Elevated circulating creatinine concentration, Capillary lea... |
ORPHA:542323 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Epistaxis, Asthma, Thick lower lip vermilion, High palat... |
ORPHA:293939 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Neonatal respiratory distress, Apnea, Elevated circulating creatine kina... |
OMIM:608836 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal telangiectasia |
OMIM:620157 |
Primary Familial Polycythemia |
|
Epistaxis, Abnormal hemoglobin, Dyspnea, Cough, Polycythemia, Exertional dyspnea |
ORPHA:90042 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Respiratory distress, Neutrophilia, Diabetes mellitus, Pneumonia, Elevated circulating C-r... |
ORPHA:36238 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Adrenal hyperplasia, Hypoglycemia, Pneumonia, Hyperkalemia, Macroorchidism |
ORPHA:90790 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Hypertension, Hypokalemia, High palate, Hypocalcemia |
OMIM:617913 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu... |
OMIM:614300 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Hypoglycemi... |
ORPHA:348 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, A... |
ORPHA:231222 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Dyspnea, Dilated cardiomyopathy... |
OMIM:610505 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Wide mouth, Anisocytosis |
OMIM:604273 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Graft Versus Host Disease |
|
Tachycardia, Pneumonia, Oral ulcer, Lymphadenopathy, Hepatosplenomegaly, Hemophagocytosis, Hyperb... |
ORPHA:39812 |
Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Normochromic... |
OMIM:611881 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Elevated circulating C-reac... |
ORPHA:1302 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In... |
OMIM:604250 |
Cystic Echinococcosis |
|
Eosinophilia, Abnormality of the testis size, Abscess, Asthma, Abnormal heart morphology, Ovarian... |
ORPHA:400 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Dental crowding, Hypoammonemia, Deep philtrum, Gingivitis, Periodontitis, Hy... |
ORPHA:534 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Bradycardia, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Rabin-Pappas Syndrome |
|
Tracheomalacia, Hypoventilation, Hyponatremia, Retinal telangiectasia |
OMIM:620155 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Tachypnea, Hyperammonemia, Hyperprolinemi... |
OMIM:615751 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... |
ORPHA:563 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hypoventilation, Hyponatremia, Spontaneous pneumothorax, Portal hype... |
ORPHA:731 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lymphadenopathy, Spl... |
OMIM:181000 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231214 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Elevated circulating luteinizing hormone level, Cryptorchidism, Hypovolemia, Hyperk... |
ORPHA:168558 |
Bachmann-Bupp Syndrome |
|
Thin upper lip vermilion, Hypoglycemia, Cryptorchidism, High palate, Hyperbilirubinemia |
OMIM:619075 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Intracranial hemorrhage, Cough, Internal hemorrhage, Leukocytosis, Elevated... |
ORPHA:340 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphology, Lymphadenopathy... |
ORPHA:449432 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentrati... |
ORPHA:79303 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Elevated circulating luteinizing hormone level, Cryptorchidism, Hypovolemia, Hyperk... |
ORPHA:289548 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Bradycardia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia,... |
ORPHA:95716 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... |
ORPHA:447 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Hyperkalemia |
OMIM:145260 |
Biliary Atresia, Extrahepatic |
|
Atretic gallbladder, Bile duct proliferation, Unconjugated hyperbilirubinemia, Hyperbilirubinemia... |
OMIM:210500 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... |
OMIM:613280 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cholelithi... |
ORPHA:846 |
Japanese Encephalitis |
|
Respiratory distress, Hyponatremia, Neutrophilia, Respiratory paralysis, Abnormal pattern of resp... |
ORPHA:79139 |
Abetalipoproteinemia |
|
Reticulocytosis, Decreased HDL cholesterol concentration, Acanthocytosis, Cardiomegaly, Congestiv... |
ORPHA:14 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Pancytopenia, Pancreatic fibrosis, Malabsorption, Thromboc... |
OMIM:557000 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome... |
OMIM:251880 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Neonatal hyperbiliru... |
ORPHA:3008 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Hyperbilirubinemia, Steatorrhea |
OMIM:235555 |
Acute Intermittent Porphyria |
|
Hyponatremia, Tachycardia, Ileus, Respiratory insufficiency, Hypertension, Respiratory paralysis,... |
ORPHA:79276 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... |
ORPHA:29073 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, An... |
OMIM:615710 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... |
OMIM:609734 |
Malignant Hyperthermia Of Anesthesia |
|
Hypercapnia, High-output congestive heart failure, Tachypnea, Ventricular tachycardia, Hyperkalem... |
ORPHA:423 |
Bone Marrow Failure Syndrome 6 |
|
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... |
OMIM:618849 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Thrombocytope... |
ORPHA:50918 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Malabsorption, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increa... |
OMIM:227810 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Hypovolemia, Elevated circulating creatinine concentration, Glycosuri... |
ORPHA:411634 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Hypocalcemia, Nodular... |
ORPHA:64744 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-losing ent... |
OMIM:175500 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Congestive h... |
OMIM:617156 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hypoventilation, Decreased response to growth hormone stimulation test, Central hyp... |
ORPHA:293987 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption, Bile duct proliferation, Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:79302 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Ogden Syndrome |
|
Apnea, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Dee... |
OMIM:300855 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Goiter |
ORPHA:95715 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Cryptorchidism |
OMIM:300200 |
Lathosterolosis |
|
Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Gingival ov... |
OMIM:607330 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis |
OMIM:608885 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Abnormal rectum morphology, Hyperbilirubinemia, Hiatus hernia |
ORPHA:101009 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Splenomegaly, Hematochezia, Bile duct proliferation, Hyperbilirubinemia, Steatorrhea |
OMIM:613812 |
Hijazi-Reis Syndrome |
|
Hyperbilirubinemia |
OMIM:301094 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Abnormal circulatin... |
ORPHA:79277 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Impaired myocardial contractility, Respiratory paralysis, Postprandial hype... |
ORPHA:681 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Decreased serum bile acid concentration, Fat malabsorption, Hyperbilirubinemia |
OMIM:214950 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:617049 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Acquired Methemoglobinemia |
|
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemo... |
ORPHA:464453 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Birk-Landau-Perez Syndrome |
|
Hypertension, Neonatal respiratory distress, Hyperkalemia, Increased circulating creatine kinase ... |
OMIM:617595 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Fat malabsorption |
OMIM:601847 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Methylmalonic acidemia, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia... |
OMIM:251000 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Pneumonia, Fol... |
OMIM:619381 |
Caroli Syndrome |
|
Liver abscess, Portal hypertension, Hypersplenism, Hematemesis, Leukocytosis, Conjugated hyperbil... |
ORPHA:480520 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Blau Syndrome |
|
Pericarditis, Splenomegaly, Dyspnea, Xerostomia, Large vessel vasculitis, Lymphadenopathy, Hypert... |
ORPHA:90340 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Ventricular septal defect, Cryptorchidism, Deep philtrum, ... |
ORPHA:163956 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Atrial septal defec... |
OMIM:614886 |
Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-reactive protein ... |
ORPHA:829 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Hypoglycemia, Posterior pituitary hypoplasia, Hyperbilirubinemia, Ne... |
OMIM:613986 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Shortened PR interval, H... |
ORPHA:79102 |
Leptospirosis |
|
Respiratory distress, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Lymp... |
ORPHA:509 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Eosinophilic infiltration of the esophagus, Malabsorption, Multiple muscular ventricular septal d... |
OMIM:615508 |
Pseudohypoaldosteronism, Type Iic |
|
Hypertension, Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
Intrahepatic Cholestasis Of Pregnancy |
|
Neonatal respiratory distress, Increased serum bile acid concentration, Abnormal pineal melatonin... |
ORPHA:69665 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia |
ORPHA:73272 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Congestive heart failu... |
ORPHA:31826 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Steatorrhea, Hypocholesterolemia, Fat malabsorption |
OMIM:607765 |
Pseudohypoaldosteronism, Type Iib |
|
Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Conjugated hyperbilirubinemia, Atrial septal defect, Patent foramen ov... |
OMIM:208085 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Hypoglycemia, Intestinal malrotation, Portal hypertension, Tachypnea, Esophageal va... |
OMIM:613658 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru... |
OMIM:619662 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Hypertension, Hypokalemia, Anemia |
OMIM:611489 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Wilson Disease |
|
Hypoparathyroidism, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouric... |
OMIM:277900 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Hyponatremia, Neonatal respiratory distress, Apnea, Hypopnea, Hypokalemia |
OMIM:618426 |
Hereditary Methemoglobinemia |
|
Lip discoloration, Methemoglobinemia, Exertional dyspnea |
ORPHA:621 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... |
OMIM:611590 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Calcinosis, Raynaud phenomenon, Splenomegaly, Lip telangiectasia, Pa... |
OMIM:613471 |
Familial Dysautonomia |
|
Hyponatremia, Hypertension, Orthostatic hypotension, Tachycardia |
ORPHA:1764 |
Yellow Fever |
|
Shock, Neutrophilia, Elevated circulating creatine kinase concentration, Supraventricular arrhyth... |
ORPHA:99829 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Orchitis, Abnorma... |
ORPHA:449563 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leukemia, Intracran... |
ORPHA:3226 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia |
ORPHA:99845 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Periodontitis, Pneumonia, Reduction of neutrophil motility |
OMIM:266265 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
Pseudohypoaldosteronism, Type Iie |
|
Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Elevated circulating creatine kinase concentration, Crackles, Tachypnea, H... |
ORPHA:466650 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Stridor, Macroglossia, Bradycardia, Ectopic thyroid, H... |
OMIM:218700 |
Liddle Syndrome |
|
Hypertension, Arrhythmia, Hypokalemia, Cerebral ischemia |
ORPHA:526 |
Degcags Syndrome |
|
Leukopenia, Iron deficiency anemia, High palate, Atrial septal defect, Patent foramen ovale, Hiat... |
OMIM:619488 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:615926 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Perimembranous ventricular septal defect, High palate, Hyperbilirubine... |
OMIM:606812 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Col... |
OMIM:174900 |
Thrombocytopenia 5 |
|
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Spider hemangioma, Splenomegaly, Ulcerative colitis, Inflammation of... |
ORPHA:2137 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Bilateral cryptorchidism, Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:619685 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia |
ORPHA:403 |
Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis,... |
ORPHA:449395 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Hyp... |
ORPHA:251274 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland, Nodular goit... |
ORPHA:79078 |
Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocyt... |
ORPHA:292 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Hyponatremia, Hypovolemia, Testicular adrenal rest tumor, Hyperkalemia, Hypochloremia, Hyp... |
ORPHA:90794 |
Cranioectodermal Dysplasia 2 |
|
Atrial septal defect, Splenomegaly, Recurrent pneumonia, Cleft palate, Broad philtrum, Hypertensi... |
OMIM:613610 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Conjugated hyperbilirub... |
OMIM:614866 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Cryptorchidism, Adrenal hyperplasia, Hyperkalemia |
OMIM:201810 |
Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatemia, Gly... |
OMIM:219800 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Unilateral cryptorchidism, Cleft palate, Persistence of hemoglobin F, Increase... |
OMIM:300946 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia, Ventricular septal defect, Right ventricular hypertrophy, Glycosuria |
OMIM:613404 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hyp... |
ORPHA:88 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Macroglossia, Bradycardia... |
ORPHA:90673 |
Rabson-Mendenhall Syndrome |
|
Dental crowding, Fasting hyperinsulinemia, High palate, Fasting hypoglycemia, Atrial septal defec... |
ORPHA:769 |
Hardikar Syndrome |
|
Atrial septal defect, Patent foramen ovale, Cleft soft palate, Portal hypertension, Partial anoma... |
OMIM:301068 |
Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Cough, Emphysema, Hemol... |
ORPHA:797 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Intracranial ... |
ORPHA:369929 |
Caroli Disease |
|
Liver abscess, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Es... |
ORPHA:53035 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia |
ORPHA:404 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Cholelithiasis |
OMIM:605479 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Hyperhomocyst... |
ORPHA:79284 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Pituitary hypothyroidism, Macroglossia, Bradycardia, Macroorchidism,... |
ORPHA:90674 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Atria... |
OMIM:619573 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hypokalemia, Palpitations, Goiter |
OMIM:188580 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology |
ORPHA:234 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Recurren... |
OMIM:619769 |
Isolated Anencephaly |
|
Cleft lip, Thymus hyperplasia, Maternal diabetes |
ORPHA:563609 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypertension, Hypokalemia, Increased circulating renin level, Hypoma... |
ORPHA:89938 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Hypovolemia |
ORPHA:223 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Pierson Syndrome |
|
Hypertension, Hypoproteinemia, Retinal hemorrhage |
OMIM:609049 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Nonproductive cough, Leukopenia, Hypoalbumine... |
ORPHA:99826 |
Psoriasis 14, Pustular |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Furrowed tongu... |
OMIM:614204 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia |
OMIM:617093 |
Parenteral Nutrition-Associated Cholestasis |
|
Villous atrophy, Portal hypertension, Biliary hyperplasia, Splenomegaly, Conjugated hyperbilirubi... |
ORPHA:567983 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Thyroid hypoplasia, ... |
OMIM:620186 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Respiratory failure |
OMIM:618252 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Angular cheilitis, Megaloblastic a... |
ORPHA:35858 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Prim... |
OMIM:619534 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Exertional dyspnea |
OMIM:250800 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Hypertension, Hypokalemia, Palpitations, Decreased circulating re... |
ORPHA:231580 |
Senior-Boichis Syndrome |
|
Portal hypertension, Esophageal varix, Hepatosplenomegaly, Hypertension, Anemia, Increased total ... |
ORPHA:84081 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug... |
ORPHA:723 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... |
ORPHA:330021 |
Mirizzi Syndrome |
|
Tachycardia, Cholesterol gallstones, Hyperbilirubinemia, Cholelithiasis, Abnormal ductus choledoc... |
ORPHA:521219 |
Lead Poisoning |
|
Delayed eruption of teeth, Decreased HDL cholesterol concentration, Asthma, Imbalanced hemoglobin... |
ORPHA:330015 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Hiatus hernia |
OMIM:609727 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Peptic ulcer, Eosinophilia,... |
ORPHA:98849 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hypocalcemia, Neutropenia, Hypoparathyroid... |
ORPHA:699 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly |
ORPHA:168577 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive heart failure, Inc... |
ORPHA:465508 |
Gitelman Syndrome |
|
Respiratory distress, Maternal diabetes, Iron deficiency anemia, Glucose intolerance, Hypocalcemi... |
ORPHA:358 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Hypokalemia, Goiter |
OMIM:613239 |
Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Leukocytosis, Tachypnea, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension, ... |
ORPHA:134 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Ovarian neoplasm, Hypertension, Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E... |
ORPHA:2363 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Asthma, Hypokalemia, Increased serum bile acid concen... |
OMIM:619377 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia |
OMIM:605635 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro... |
OMIM:617052 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentratio... |
OMIM:612852 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Respiratory distress, Tachycardia, Sinusitis, Pneumonia, Elevated circulating creatine kin... |
ORPHA:36234 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Respiratory distress, Pancytopenia, Neonatal respiratory distress, Myocar... |
OMIM:260400 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpitations, Abnormal T-wave, Dec... |
ORPHA:231625 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Neonatal death, Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid c... |
OMIM:614887 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, Respiratory insufficiency, ... |
OMIM:208500 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbiliru... |
OMIM:229600 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... |
ORPHA:97282 |
Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... |
OMIM:249100 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Cryptorchidism, High palate, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia, Aspiration pneumonia |
ORPHA:95232 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cryptorchidism, Cleft palate, Abnormal heart morphology, Wide mouth, Abnormal ... |
OMIM:154500 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Vasculitis, Ly... |
OMIM:617099 |
Isolated Biliary Atresia |
|
Hypopituitarism, Atretic gallbladder, Splenomegaly, Conjugated hyperbilirubinemia, Bile duct prol... |
ORPHA:30391 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Thin upper lip vermilion, Dental crowding, Bidirectional ventricular ectop... |
OMIM:170390 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus totalis, Eleva... |
OMIM:613095 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Intestinal malrotation, Dextrocardia, Conjugated hyperbilirubinemia,... |
OMIM:620305 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect,... |
OMIM:619475 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Hypokalemia, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:613677 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Celiac disease, Conjugated hyperbilirubinemia, Hypo... |
ORPHA:186 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Muir-Torre Syndrome |
|
Adenoma sebaceum, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm |
ORPHA:587 |
Cystinosis |
|
Portal hypertension, Malabsorption, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus |
ORPHA:213 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hypoglycemia, Cryptorchidism, Hyperkalemia, Polycystic ovaries, Anteriorly placed a... |
OMIM:201750 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Cleft soft palate, Pure red cell aplasia, Clef... |
ORPHA:124 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Generalized lymphadenopathy, Pulmonary embolism, Intracranial hemorrhage, C... |
ORPHA:3260 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
Dend Syndrome |
|
Downturned corners of mouth, Hyperglycemia, Elevated hemoglobin A1c, Long philtrum |
ORPHA:79134 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Exaggerated cupid's bow, Hypertension, Fused teeth, High palate, Short philtrum, Thick vermilion ... |
OMIM:300896 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Ulcerative colitis, Inflammation of the large intestine, Granuloma, Hyperbilirubinemia, Abnormal ... |
ORPHA:562639 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... |
ORPHA:466677 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Thin upper lip vermilion, Everted lower lip vermilion |
OMIM:617101 |
Liddle Syndrome 2 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:129900 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Se... |
OMIM:604292 |
Liddle Syndrome 1 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Respiratory insuff... |
OMIM:210710 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Dyspnea, Imbalanced hemoglobin synthesis, Ulcerative coli... |
ORPHA:99867 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Protruding tongue, Diastema, Cryptorchidism, Thick lower lip vermilion... |
OMIM:301040 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology |
ORPHA:252164 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Cleft upper lip, Congenital hyp... |
OMIM:105650 |
Hartsfield Syndrome |
|
Median cleft lip, Cleft upper lip, Cryptorchidism, Gonadotropin deficiency, Cleft palate, Hyperna... |
OMIM:615465 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Dyspnea, Leukocytosis, Cheilitis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Hypertension, Hypokalemia, Glucose intolerance |
OMIM:219090 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Tented upper lip vermilion, Aganglionic megacolon, Abnormal hemoglobin, Abnormality of the dentit... |
ORPHA:847 |
Johanson-Blizzard Syndrome |
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Conjugated hyperbilirubinemia, Anteriorly placed anus, Downturned corners of mouth, Hypocalcemia,... |
OMIM:243800 |
Beta-Thalassemia |
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Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
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Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Apparent Mineralocorticoid Excess |
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Left ventricular hypertrophy, Hypertension, Hypokalemia, Decreased circulating renin level |
ORPHA:320 |
Whim Syndrome |
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Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... |
ORPHA:51636 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Neonatal respiratory distress, Thymus hyperplasia, Chylothorax |
OMIM:619036 |
Proteus-Like Syndrome |
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Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ova... |
ORPHA:2969 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Igg4-Related Pachymeningitis |
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Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Dyspnea, Lymphade... |
ORPHA:449427 |
Adrenocortical Carcinoma |
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Diabetes mellitus, Adrenocorticotropic hormone deficiency, Hypertension, Hypokalemia, Palpitations |
ORPHA:1501 |
Renal Tubular Acidosis, Distal, 1 |
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Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Pancreatic And Cerebellar Agenesis |
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Diabetes mellitus, Apnea, Hypoglycemia, Secundum atrial septal defect, Hyperglycemia, Pancreatic ... |
OMIM:609069 |
Nelson Syndrome |
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Testicular neoplasm, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormone excess, In... |
ORPHA:199244 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
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Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
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Hypokalemia |
OMIM:602722 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Fanconi Renotubular Syndrome 1 |
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Glycosuria, Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Leukocyte Adhesion Deficiency Type Ii |
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Neutrophilia, Severe periodontitis, Protruding tongue, Microcytic anemia, Deep philtrum, Prematur... |
ORPHA:99843 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia, Elevated circulating luteinizing hormone level |
OMIM:250790 |
Leprechaunism |
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Enlarged ovaries, Rectal prolapse, Insulin resistance, Hyperinsulinemia, Megarectum, Hypokalemia,... |
ORPHA:508 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Increased circulating g... |
ORPHA:90793 |
Neurofibroma |
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Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding |
ORPHA:252183 |
Darier-White Disease |
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Enlargement of parotid gland |
OMIM:124200 |
East Syndrome |
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Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:199343 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Testicular adrenal rest tumor, Polycystic ovaries, Intracranial hemorrhage, Hypertension, Hypokal... |
ORPHA:90795 |
Gitelman Syndrome |
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Prolonged QT interval, Ventricular tachycardia, Hypokalemia, Increased circulating renin level, P... |
OMIM:263800 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Impaired glucose tolerance, Elevat... |
OMIM:256040 |
Lacrimoauriculodentodigital Syndrome 1 |
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Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
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Enlargement of parotid gland |
OMIM:600343 |
Tsh-Secreting Pituitary Adenoma |
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Enlarged pituitary gland, Ventricular arrhythmia, Elevated circulating growth hormone concentrati... |
ORPHA:91347 |
Helix Syndrome |
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Hypermagnesemia, Hyperparathyroidism, Hypokalemia, Xerostomia |
OMIM:617671 |
Hypomagnesemia 2, Renal |
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Hypokalemia, Hypomagnesemia |
OMIM:154020 |
Renal Tubular Acidosis Iii |
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Hypokalemia |
OMIM:267200 |
Generalized Glucocorticoid Resistance Syndrome |
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Hypertension, Hypokalemia, Adrenal hyperplasia, Hypoglycemia |
ORPHA:786 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Hypertension, Hypokalemia, Congenital adrenal hyperplasia, Decreased testicular size, Decreased c... |
OMIM:202010 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
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Hypertension, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:612780 |
Proximal Renal Tubular Acidosis |
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Malabsorption, Enamel hypomineralization, Hypovolemia, Bicarbonaturia, Subvalvular aortic stenosi... |
ORPHA:47159 |
Bartter Syndrome, Type 3 |
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Hyperchloriduria, Hypokalemia, Increased circulating renin level, Hypotension |
OMIM:607364 |
Bartter Syndrome, Type 1, Antenatal |
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Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Low-to-no... |
OMIM:601678 |
Primary Sjögren Syndrome |
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Normocytic anemia, Lymphocytic interstitial pneumonia, Raynaud phenomenon, Thrombocytopenia, Nonp... |
ORPHA:289390 |
Rat-Bite Fever |
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Pericarditis, Parotitis, Lymphadenitis, Myocarditis, Endocarditis, Anemia |
ORPHA:31205 |
Hyper-Igd Syndrome |
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Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Oral ulcer, Hepatosplenomegaly, Lymphade... |
OMIM:260920 |
Distal Renal Tubular Acidosis |
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Respiratory insufficiency due to muscle weakness, Hemolytic anemia, Hypokalemia |
ORPHA:18 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Glycosuria, Hypokalemia, Decreased ... |
ORPHA:3337 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Absent gallbladder, Atrial septal defect, Diabetes mellitus, Hypoplastic tricuspid valve, Intesti... |
OMIM:600001 |
Infantile Nephropathic Cystinosis |
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Glycosuria, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
Vascular Ehlers-Danlos Syndrome |
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High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodontitis, Microdontia, Internal... |
ORPHA:286 |
Proteus Syndrome |
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Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Sudden cardiac death,... |
ORPHA:744 |
Bartter Syndrome, Type 2, Antenatal |
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Hyperchloriduria, Increased serum prostaglandin E2, Low-to-normal blood pressure, Hypochloremia, ... |
OMIM:241200 |
Leukodystrophy, Hypomyelinating, 5 |
|
|
OMIM:610532 |
Hypomyelination-Congenital Cataract Syndrome |
|
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ORPHA:85163 |