Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
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Hyponatremia |
ORPHA:3225 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
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Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
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Failure to thrive, Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
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Failure to thrive, Hypernatremia |
OMIM:304800 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
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Multiple muscular ventricular septal defects, Hypoalbuminemia, Hypernatremia, Pulmonic stenosis, ... |
OMIM:615508 |
Corticosterone Methyloxidase Type Ii Deficiency |
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Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
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Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Corticosterone Methyloxidase Type I Deficiency |
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Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
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Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Chronic Bilirubin Encephalopathy |
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Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
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Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... |
OMIM:615751 |
Pyruvate Carboxylase Deficiency |
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Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Failure to thrive, H... |
ORPHA:3008 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Cardiomegaly |
ORPHA:88643 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
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Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Neuroleptic Malignant Syndrome |
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Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Hypernatremia |
ORPHA:223 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
Late-Onset Familial Hypoaldosteronism |
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Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Weight loss |
ORPHA:178029 |
Webb-Dattani Syndrome |
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Hypernatremia, Obesity |
OMIM:615926 |
Early-Onset Familial Hypoaldosteronism |
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Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
Bartter Syndrome, Type 5, Antenatal, Transient |
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Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
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Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:264350 |
Hypoadrenocorticism, Familial |
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Hyponatremia, Hyperkalemia |
OMIM:240200 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Hyperkalemic Periodic Paralysis |
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Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem... |
ORPHA:682 |
Generalized Pseudohypoaldosteronism Type 1 |
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Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni... |
ORPHA:171876 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:614736 |
Diarrhea 1, Secretory Chloride, Congenital |
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Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive |
OMIM:214700 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Hyponatremia, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Failure to thrive |
OMIM:613845 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, S... |
OMIM:603553 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
Wolcott-Rallison Syndrome |
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Hyponatremia, Hepatomegaly, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Decreased body w... |
ORPHA:1667 |
Alg8-Cdg |
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Hyponatremia, Small for gestational age, Abnormality of subcutaneous fat tissue, Camptodactyly, F... |
ORPHA:79325 |
Hereditary Coproporphyria |
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Hyponatremia, Abnormal circulating porphyrin concentration, Atypical scarring of skin |
ORPHA:79273 |
Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Generalized Pustular Psoriasis |
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Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb... |
ORPHA:247353 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Secundum atrial septal defect |
OMIM:608688 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Failure to thrive |
OMIM:620157 |
Porphyria Due To Ala Dehydratase Deficiency |
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Hyponatremia, Abnormal circulating porphyrin concentration, Ankle flexion contracture, Increased ... |
ORPHA:100924 |
Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypoc... |
ORPHA:31824 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Weight loss, Hypoalbuminemia... |
OMIM:619381 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Splenomegaly, Myocarditis, Endocarditis, Cellulitis |
ORPHA:549 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Abnormal heart morphology |
ORPHA:391673 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive |
OMIM:613090 |
Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagn... |
OMIM:618183 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Pericarditis, Cachexia, Myocarditis, Splenomegaly |
ORPHA:3452 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Failure to thrive |
OMIM:300200 |
Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Weight loss, Hypertrophic cardiomyopathy, Failure to thrive |
ORPHA:361 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Small for gestational age |
ORPHA:97362 |
Alg12-Cdg |
|
Hyponatremia, Muscular ventricular septal defect, Biventricular hypertrophy, Hypoalbuminemia, Abn... |
ORPHA:79324 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyo... |
OMIM:610505 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level |
ORPHA:90791 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Weight loss, Hyperuricemia, Failure to thrive |
ORPHA:199299 |
Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Scarring |
ORPHA:79473 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Failure to thrive in infancy, Obesity |
OMIM:620155 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating renin level, Hyperu... |
ORPHA:95409 |
Mirage Syndrome |
|
Hyponatremia, Hyperkalemia, Decreased body weight |
OMIM:617053 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Increased circulating renin ... |
ORPHA:89938 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
ORPHA:90790 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Failure to thrive, Small for gestational age |
OMIM:618252 |
Shigellosis |
|
Hyponatremia, Myocarditis, Failure to thrive in infancy, Abnormal blood ion concentration |
ORPHA:810 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Hepatosplenomegaly, Weight loss, Hype... |
ORPHA:275761 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Hypocalcemia, Elevated hepatic iron concentration, Atrial septal defect, Patent for... |
OMIM:619991 |
Addison Disease |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating renin level, Hyperu... |
ORPHA:85138 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentr... |
ORPHA:167 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive |
OMIM:602522 |
Holoprosencephaly |
|
Hyponatremia, Omphalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congen... |
ORPHA:2162 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:289548 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Reduced blood urea nitrog... |
OMIM:219800 |
Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
ORPHA:293978 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Japanese Encephalitis |
|
Hyponatremia, Elbow flexion contracture |
ORPHA:79139 |
Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
Pituitary Apoplexy |
|
Hyponatremia |
ORPHA:95613 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia, Failure to thrive |
OMIM:618426 |
Sheehan Syndrome |
|
Hyponatremia, Obesity |
ORPHA:91355 |
Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphology, Atypical scarrin... |
ORPHA:534 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... |
ORPHA:555874 |
Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Myocarditis, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentration, Enlarged... |
ORPHA:731 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia, Obesity |
ORPHA:293987 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Failure to thrive |
ORPHA:90794 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Small for gestational age, Hyperkalemia, Camptodactyly, Joint contracture of the ha... |
OMIM:201750 |