Pheochromocytoma/Paraganglioma Syndrome 6 |
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Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Familial Cylindromatosis |
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Telangiectasia of the skin |
ORPHA:211 |
Moyamoya Disease 1 |
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Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
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Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... |
OMIM:605373 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
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Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... |
OMIM:168000 |
Telangiectasia, Hereditary Benign |
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Diffuse telangiectasia |
OMIM:187260 |
Capillary Malformation-Arteriovenous Malformation 2 |
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Telangiectasia |
OMIM:618196 |
Hereditary Central Diabetes Insipidus |
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Polydipsia, Vomiting, Diarrhea |
ORPHA:30925 |
Pure Autonomic Failure |
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Orthostatic hypotension, Syncope, Abnormality of circulating catecholamine level |
ORPHA:441 |
Renal Glucosuria |
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Polydipsia, Polyphagia |
OMIM:233100 |
Kleine-Levin Syndrome |
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Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Hyperhid... |
ORPHA:33543 |
Central Diabetes Insipidus |
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Diarrhea, Polydipsia, Anorexia, Dehydration |
ORPHA:178029 |
Type 1 Diabetes Mellitus |
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Polydipsia, Polyphagia |
OMIM:222100 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
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Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia |
OMIM:615506 |
Familial Cold Urticaria |
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Polydipsia, Dehydration, Hyperhidrosis |
ORPHA:47045 |
Acquired Central Diabetes Insipidus |
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Polydipsia |
ORPHA:95626 |
Huntington Disease |
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Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha... |
ORPHA:399 |
Intestinal Botulism |
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Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Achalasia, Familial Esophageal |
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Achalasia, Xerostomia |
OMIM:200400 |
Senior-Loken Syndrome 4 |
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Polydipsia |
OMIM:606996 |
Ochoa Syndrome |
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Polydipsia, Constipation, Bowel incontinence |
ORPHA:2704 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
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Polydipsia, Vomiting, Hypertonic dehydration, Constipation |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
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Polydipsia, Vomiting, Hypertonic dehydration, Constipation |
OMIM:304800 |
Helix Syndrome |
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Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis, Polydipsia |
OMIM:617671 |
Familial Hyperaldosteronism Type I |
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Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism, Nausea |
ORPHA:403 |
Iatrogenic Botulism |
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Constipation, Xerostomia, Dysphagia |
ORPHA:254509 |
Erythermalgia, Primary |
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Diarrhea, Constipation, Xerostomia, Hyperhidrosis |
OMIM:133020 |
Nephronophthisis-Like Nephropathy 2 |
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Polydipsia |
OMIM:619468 |
Pediatric-Onset Graves Disease |
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Hyperactivity, Thyrotoxicosis with diffuse goiter, Increased circulating free T3, Diarrhea, Grave... |
ORPHA:525731 |
Nephrogenic Diabetes Insipidus |
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Hypernatremic dehydration, Polyhydramnios, Anorexia, Constipation, Polydipsia |
ORPHA:223 |
Hyperaldosteronism, Familial, Type Iii |
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Polydipsia, Hyperaldosteronism |
OMIM:613677 |
Brain-Lung-Thyroid Syndrome |
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Hypoparathyroidism, Hyperactivity, Abnormal eating behavior, Abnormal drinking behavior, Congenit... |
ORPHA:209905 |
Familial Hyperaldosteronism Type Iii |
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Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Dexamethasone-suppressible pri... |
ORPHA:251274 |
Botulism |
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Diarrhea, Constipation, Xerostomia, Dysphagia |
ORPHA:1267 |
Von Hippel-Lindau Disease |
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Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Pancreatic endocrine tumor, Ad... |
ORPHA:892 |
Acute Lung Injury |
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Acute pancreatitis, Addictive alcohol use, Edema |
ORPHA:178320 |
Cystinosis |
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Abnormal repetitive mannerisms, Dehydration, Vomiting, Polydipsia, Hypothyroidism |
ORPHA:213 |
Methanol Poisoning |
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Diarrhea, Addictive alcohol use, Vomiting |
ORPHA:31825 |
Teratoma, Pineal |
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Polydipsia |
OMIM:273120 |
Bardet-Biedl Syndrome 9 |
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Polydipsia, Polyphagia |
OMIM:615986 |
Sjogren Syndrome |
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Xerostomia |
OMIM:270150 |
Foodborne Botulism |
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Diarrhea, Constipation, Xerostomia, Dysphagia |
ORPHA:228371 |
Marchiafava-Bignami Disease |
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Addictive alcohol use, Vomiting, Aggressive behavior |
ORPHA:221074 |
Infant Botulism |
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Bowel incontinence, Anorexia, Xerostomia, Constipation, Dysphagia |
ORPHA:178478 |
Panhypophysitis |
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Decreased circulating cortisol level, Reduced circulating prolactin concentration, Hashimoto thyr... |
ORPHA:95513 |
Primary Unilateral Adrenal Hyperplasia |
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Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Nausea |
ORPHA:231580 |
Secondary Non-Traumatic Avascular Necrosis |
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Addictive alcohol use |
ORPHA:399180 |
Postorgasmic Illness Syndrome |
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Xerostomia, Hyperhidrosis |
ORPHA:279947 |
East Syndrome |
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Polydipsia, Salt craving, Hyperaldosteronism |
ORPHA:199343 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
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Anorexia, Diarrhea, Xerostomia, Hematochezia, Vomiting |
OMIM:175500 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Addictive alcohol use, Vomiting, Hypopituitarism, Hypothyroidism, Nausea |
ORPHA:90065 |
Inhalational Botulism |
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Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Polydipsia, Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism, Nausea |
ORPHA:369929 |
Herpes Simplex Virus Encephalitis |
|
Addictive alcohol use, Cerebral edema |
ORPHA:1930 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Anorexia, Diarrhea, Pedal edema, Polydipsia, Hypothyroidism |
ORPHA:3452 |
Reynolds Syndrome |
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Gastroesophageal reflux, Ascites, Xerostomia, Dysphagia |
ORPHA:779 |
Pituitary Dermoid And Epidermoid Cysts |
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Panhypopituitarism, Hyperpituitarism, Polydipsia, Anterior hypopituitarism, Increased circulating... |
ORPHA:91351 |
Staphylococcal Necrotizing Pneumonia |
|
Pleural effusion, Addictive alcohol use, Pleural empyema |
ORPHA:36238 |
Adiposis Dolorosa |
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Hypothyroidism, Constipation, Xerostomia, Diarrhea |
ORPHA:36397 |
Amyotrophic Lateral Sclerosis |
|
Xerostomia, Agitation |
ORPHA:803 |
Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Constipation, Hypohidrosis |
ORPHA:3157 |
Prune Belly Syndrome |
|
Xerostomia, Oligohydramnios |
OMIM:100100 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Apparent Mineralocorticoid Excess |
|
Polydipsia, Decreased circulating aldosterone level |
ORPHA:320 |
Cirrhotic Cardiomyopathy |
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Peripheral edema, Ascites, Addictive alcohol use, Pulmonary edema |
ORPHA:57777 |
Isolated Osteopoikilosis |
|
Addictive alcohol use |
ORPHA:166119 |
Antisynthetase Syndrome |
|
Xerostomia, Edema, Dysphagia |
ORPHA:81 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Renal Hypoplasia |
|
Polydipsia, Dehydration |
ORPHA:93101 |
Acute Promyelocytic Leukemia |
|
Stomatitis, Addictive alcohol use, Anorexia |
ORPHA:520 |
Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Primary hyperparathyroidism, Constipation |
OMIM:239200 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia |
OMIM:615994 |
Diffuse Cutaneous Systemic Sclerosis |
|
Gastroesophageal reflux, Xerostomia, Dysphagia |
ORPHA:220393 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Aplasia Of Lacrimal And Salivary Glands |
|
Xerostomia |
OMIM:180920 |
Senior-Boichis Syndrome |
|
Aggressive behavior, Agitation, Attention deficit hyperactivity disorder, Polydipsia, Ascites |
ORPHA:84081 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polydipsia, Salt craving, Hyperaldosteronism |
OMIM:612780 |
Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Dehydration, Vomiting, Constipation, Polydipsia |
ORPHA:411629 |
Ethylene Glycol Poisoning |
|
Gastritis, Addictive alcohol use, Vomiting, Nausea, Cerebral edema, Pulmonary edema |
ORPHA:31826 |
Gitelman Syndrome |
|
Polydipsia, Salt craving, Vomiting, Constipation |
OMIM:263800 |
Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polyhydramnios, Edema, Hydrops fetalis, Hyperaldosteronism, Polydipsia |
OMIM:602522 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of exocrine pancreas physiology, Abnormality of endocrine pancreas physiology, Polydi... |
ORPHA:93111 |
Oligomeganephronia |
|
Polydipsia, Dehydration |
ORPHA:2260 |
Lambert-Eaton Myasthenic Syndrome |
|
Constipation, Xerostomia, Hypohidrosis |
ORPHA:43393 |
Erdheim-Chester Disease |
|
Pleural effusion, Polydipsia, Joint swelling, Hyperhidrosis |
ORPHA:35687 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Aggressive behavior, Adrenocorticotropic h... |
ORPHA:293987 |
Distal Renal Tubular Acidosis |
|
Diarrhea, Dehydration, Vomiting, Constipation, Polydipsia |
ORPHA:18 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Polydipsia, Pancreatitis, Dysphagia |
ORPHA:537 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Primary hyperparathyroidism, Constipation, Dysphagia, Polydipsia, Pancreatitis |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Primary hyperparathyroidism, Constipation, Dysphagia, Polydipsia, Pancreatitis |
ORPHA:143 |
Gitelman Syndrome |
|
Salt craving, Pericardial effusion, Diarrhea, Hyperhidrosis, Constipation, Primary hyperaldostero... |
ORPHA:358 |
Juvenile Nephropathic Cystinosis |
|
Hypothyroidism, Polydipsia, Vomiting, Dehydration |
ORPHA:411634 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Polydipsia, Constipation |
ORPHA:3463 |
Rabson-Mendenhall Syndrome |
|
Polydipsia, Hypothyroidism |
ORPHA:769 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Dehydration, Hypohidrosis, Primary hypothyroidism, Dysphagia, Polydips... |
OMIM:219800 |
Porphyria Cutanea Tarda |
|
Addictive alcohol use |
ORPHA:101330 |
Bartter Syndrome, Type 2, Antenatal |
|
Polyhydramnios, Diarrhea, Dehydration, Hyperaldosteronism, Vomiting, Constipation, Polydipsia |
OMIM:241200 |
Proximal Renal Tubular Acidosis |
|
Diarrhea, Polydipsia, Vomiting, Dehydration |
ORPHA:47159 |
Hypomagnesemia 3, Renal |
|
Polydipsia |
OMIM:248250 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Polydipsia, Ascites, Oligohydramnios |
ORPHA:731 |
Arima Syndrome |
|
Polydipsia |
OMIM:243910 |