Paragangliomas 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Familial Cylindromatosis |
|
Telangiectasia of the skin |
ORPHA:211 |
Moyamoya Disease 1 |
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Telangiectasia, Inflammatory arteriopathy |
OMIM:252350 |
Paragangliomas 3 |
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Glomus jugular tumor, Hypertension associated with pheochromocytoma, Elevated circulating catecho... |
OMIM:605373 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
Paragangliomas 1 |
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Glomus jugular tumor, Hypertension associated with pheochromocytoma, Elevated circulating catecho... |
OMIM:168000 |
Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia |
OMIM:618196 |
Hereditary Central Diabetes Insipidus |
|
Vomiting, Diarrhea, Polydipsia |
ORPHA:30925 |
Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Syncope, Abnormality of circulating catecholamine level |
ORPHA:441 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
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Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia |
OMIM:615506 |
Familial Cold Urticaria |
|
Hyperhidrosis, Polydipsia, Dehydration |
ORPHA:47045 |
Acquired Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:95626 |
Central Diabetes Insipidus |
|
Diarrhea, Polydipsia, Dehydration |
ORPHA:178029 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Vomiting, Constipation, Polydipsia, Hypertonic dehydration |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Vomiting, Constipation, Polydipsia, Hypertonic dehydration |
OMIM:304800 |
Ochoa Syndrome |
|
Bowel incontinence, Constipation, Polydipsia |
ORPHA:2704 |
Intestinal Botulism |
|
Xerostomia, Diarrhea, Dysphagia |
ORPHA:178481 |
Helix Syndrome |
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Hypohidrosis, Anhidrosis, Hyperparathyroidism, Xerostomia, Polydipsia |
OMIM:617671 |
Achalasia, Familial Esophageal |
|
Achalasia, Xerostomia |
OMIM:200400 |
Familial Hyperaldosteronism Type I |
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Dexamethasone-suppressible primary hyperaldosteronism, Nausea, Polydipsia |
ORPHA:403 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
Pediatric-Onset Graves Disease |
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Hyperhidrosis, Hyperactivity, Diarrhea, Increased circulating T4 concentration, Thyrotoxicosis wi... |
ORPHA:525731 |
Iatrogenic Botulism |
|
Constipation, Xerostomia, Dysphagia |
ORPHA:254509 |
Familial Hyperaldosteronism Type Iii |
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Glucocortocoid-insensitive primary hyperaldosteronism, Dexamethasone-suppressible primary hyperal... |
ORPHA:251274 |
Hyperaldosteronism, Familial, Type Iii |
|
Hyperaldosteronism, Polydipsia |
OMIM:613677 |
Erythermalgia, Primary |
|
Xerostomia, Hyperhidrosis, Diarrhea, Constipation |
OMIM:133020 |
Brain-Lung-Thyroid Syndrome |
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Hyperactivity, Compensated hypothyroidism, Hypoparathyroidism, Abnormal eating behavior, Abnormal... |
ORPHA:209905 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Polydipsia |
OMIM:615986 |
Von Hippel-Lindau Disease |
|
Pancreatic endocrine tumor, Elevated circulating catecholamine level, Hypertension, Arrhythmia, A... |
ORPHA:892 |
Botulism |
|
Xerostomia, Constipation, Diarrhea, Dysphagia |
ORPHA:1267 |
Nephrogenic Diabetes Insipidus |
|
Polyhydramnios, Constipation, Polydipsia, Hypernatremic dehydration |
ORPHA:223 |
Cystinosis |
|
Hypothyroidism, Vomiting, Polydipsia, Dehydration |
ORPHA:213 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Nausea, Polydipsia |
ORPHA:231580 |
Panhypophysitis |
|
Increased circulating prolactin concentration, Gonadotropin deficiency, Decreased circulating cor... |
ORPHA:95513 |
Sjogren Syndrome |
|
Xerostomia |
OMIM:270150 |
Foodborne Botulism |
|
Xerostomia, Constipation, Diarrhea, Dysphagia |
ORPHA:228371 |
East Syndrome |
|
Salt craving, Hyperaldosteronism, Polydipsia |
ORPHA:199343 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism, Nausea, Polydipsia |
ORPHA:369929 |
Pituitary Dermoid And Epidermoid Cysts |
|
Increased circulating prolactin concentration, Anterior hypopituitarism, Hyperpituitarism, Panhyp... |
ORPHA:91351 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Septo-Optic Dysplasia Spectrum |
|
Hypohidrosis, Constipation, Polydipsia |
ORPHA:3157 |
Whipple Disease |
|
Hypothyroidism, Pedal edema, Diarrhea, Gastrointestinal hemorrhage, Polydipsia |
ORPHA:3452 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Polydipsia |
ORPHA:320 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Renal Hypoplasia |
|
Polydipsia, Dehydration |
ORPHA:93101 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia |
OMIM:615994 |
Hyperparathyroidism, Neonatal Severe |
|
Primary hyperparathyroidism, Constipation, Polydipsia |
OMIM:239200 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Hyperaldosteronism, Polydipsia |
OMIM:612780 |
Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
Infantile Nephropathic Cystinosis |
|
Vomiting, Abnormality of thyroid physiology, Constipation, Dehydration, Polydipsia |
ORPHA:411629 |
Gitelman Syndrome |
|
Salt craving, Vomiting, Constipation, Polydipsia |
OMIM:263800 |
Aplasia Of Lacrimal And Salivary Glands |
|
Xerostomia |
OMIM:180920 |
Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
Senior-Boichis Syndrome |
|
Agitation, Ascites, Attention deficit hyperactivity disorder, Polydipsia |
ORPHA:84081 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polyhydramnios, Hyperaldosteronism, Hydrops fetalis, Edema, Polydipsia |
OMIM:602522 |
Oligomeganephronia |
|
Polydipsia, Dehydration |
ORPHA:2260 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Abnormality of endocrine pancreas physiology, Abnormality of exocrine pancreas ph... |
ORPHA:93111 |
Erdheim-Chester Disease |
|
Pleural effusion, Hyperhidrosis, Joint swelling, Polydipsia |
ORPHA:35687 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Pancreatitis, Polydipsia, Dysphagia |
ORPHA:537 |
Distal Renal Tubular Acidosis |
|
Vomiting, Diarrhea, Constipation, Dehydration, Polydipsia |
ORPHA:18 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Constipation, Dysphagia, Primary hyperparathyroidism, Pancreatitis, Polydipsia |
ORPHA:99880 |
Lambert-Eaton Myasthenic Syndrome |
|
Constipation, Hypohidrosis, Xerostomia |
ORPHA:43393 |
Parathyroid Carcinoma |
|
Constipation, Dysphagia, Primary hyperparathyroidism, Pancreatitis, Polydipsia |
ORPHA:143 |
Gitelman Syndrome |
|
Hyperhidrosis, Diarrhea, Pericardial effusion, Primary hyperaldosteronism, Graves disease, Hashim... |
ORPHA:358 |
Juvenile Nephropathic Cystinosis |
|
Hypothyroidism, Vomiting, Polydipsia, Dehydration |
ORPHA:411634 |
Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Polydipsia |
ORPHA:769 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Constipation, Polydipsia |
ORPHA:3463 |
Cystinosis, Nephropathic |
|
Hypohidrosis, Exocrine pancreatic insufficiency, Primary hypothyroidism, Dehydration, Dysphagia, ... |
OMIM:219800 |
Bartter Syndrome, Type 2, Antenatal |
|
Polyhydramnios, Hyperaldosteronism, Vomiting, Diarrhea, Constipation, Dehydration, Polydipsia |
OMIM:241200 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Hypohidrosis, Increased circulating prolactin concentration, Gonadotropin... |
ORPHA:293987 |
Proximal Renal Tubular Acidosis |
|
Vomiting, Diarrhea, Polydipsia, Dehydration |
ORPHA:47159 |
Hypomagnesemia 3, Renal |
|
Polydipsia |
OMIM:248250 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Ascites, Polydipsia, Oligohydramnios |
ORPHA:731 |
Arima Syndrome |
|
Polydipsia |
OMIM:243910 |