Paragangliomas 6 |
|
Hypertension, Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Familial Cylindromatosis |
|
Telangiectasia of the skin |
ORPHA:211 |
Moyamoya Disease 1 |
|
Telangiectasia, Inflammatory arteriopathy |
OMIM:252350 |
Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia |
OMIM:618196 |
Paragangliomas 3 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Chemodectoma,... |
OMIM:605373 |
Paragangliomas 1 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Palpita... |
OMIM:168000 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level, Syncope, Orthostatic hypotension |
ORPHA:441 |
Hereditary Central Diabetes Insipidus |
|
Vomiting, Diarrhea, Polydipsia |
ORPHA:30925 |
Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis |
OMIM:615506 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Familial Cold Urticaria |
|
Hyperhidrosis, Polydipsia, Dehydration |
ORPHA:47045 |
Acquired Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:95626 |
Central Diabetes Insipidus |
|
Diarrhea, Dehydration, Polydipsia |
ORPHA:178029 |
Achalasia, Familial Esophageal |
|
Xerostomia, Achalasia |
OMIM:200400 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Intestinal Botulism |
|
Xerostomia, Dysphagia, Diarrhea |
ORPHA:178481 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Vomiting, Hypertonic dehydration, Constipation, Polydipsia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Vomiting, Hypertonic dehydration, Constipation, Polydipsia |
OMIM:304800 |
Ochoa Syndrome |
|
Bowel incontinence, Constipation, Polydipsia |
ORPHA:2704 |
Helix Syndrome |
|
Polydipsia, Xerostomia, Hyperparathyroidism, Hypohidrosis, Anhidrosis |
OMIM:617671 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Polydipsia |
OMIM:304900 |
Familial Hyperaldosteronism Type I |
|
Dexamethasone-suppressible primary hyperaldosteronism, Polydipsia, Nausea |
ORPHA:403 |
Iatrogenic Botulism |
|
Xerostomia, Dysphagia, Constipation |
ORPHA:254509 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
Von Hippel-Lindau Disease |
|
Adrenal pheochromocytoma, Pancreatic endocrine tumor, Myocarditis, Hypertension, Palpitations, Ca... |
ORPHA:892 |
Hyperaldosteronism, Familial, Type Iii |
|
Hyperaldosteronism, Polydipsia |
OMIM:613677 |
Pediatric-Onset Graves Disease |
|
Increased circulating T4 level, Polydipsia, Polyphagia, Thyrotoxicosis with diffuse goiter, Oligo... |
ORPHA:525731 |
Familial Hyperaldosteronism Type Iii |
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Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Nausea |
ORPHA:251274 |
Brain-Lung-Thyroid Syndrome |
|
Hypoparathyroidism, Abnormal drinking behavior, Congenital hypothyroidism, Abnormal eating behavi... |
ORPHA:209905 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
Sjogren Syndrome |
|
Xerostomia |
OMIM:270150 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Constipation, Polydipsia, Polyhydramnios |
ORPHA:223 |
Cystinosis |
|
Vomiting, Hypothyroidism, Dehydration, Polydipsia |
ORPHA:213 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Nausea |
ORPHA:231580 |
Panhypophysitis |
|
Increased circulating prolactin concentration, Polydipsia, Nausea, Decreased circulating cortisol... |
ORPHA:95513 |
East Syndrome |
|
Salt craving, Hyperaldosteronism, Polydipsia |
ORPHA:199343 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hyperaldosteronism, Polydipsia, Nausea |
ORPHA:369929 |
Pituitary Dermoid And Epidermoid Cysts |
|
Anterior hypopituitarism, Polydipsia, Panhypopituitarism, Increased circulating prolactin concent... |
ORPHA:91351 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Polydipsia |
ORPHA:320 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Whipple Disease |
|
Polydipsia, Gastrointestinal hemorrhage, Hypothyroidism, Pedal edema, Diarrhea |
ORPHA:3452 |
Renal Hypoplasia |
|
Dehydration, Polydipsia |
ORPHA:93101 |
Septo-Optic Dysplasia Spectrum |
|
Hypohidrosis, Constipation, Polydipsia |
ORPHA:3157 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Salt craving, Hyperaldosteronism, Polydipsia |
OMIM:612780 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia |
OMIM:615994 |
Hyperparathyroidism, Neonatal Severe |
|
Primary hyperparathyroidism, Constipation, Polydipsia |
OMIM:239200 |
Aplasia Of Lacrimal And Salivary Glands |
|
Xerostomia |
OMIM:180920 |
Infantile Nephropathic Cystinosis |
|
Vomiting, Polydipsia, Abnormality of thyroid physiology, Dehydration, Constipation |
ORPHA:411629 |
Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
Gitelman Syndrome |
|
Vomiting, Salt craving, Constipation, Polydipsia |
OMIM:263800 |
Oligomeganephronia |
|
Dehydration, Polydipsia |
ORPHA:2260 |
Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of endocrine pancreas physiology, Hypothyroidism, Abnormality of exocrine pancreas ph... |
ORPHA:93111 |
Distal Renal Tubular Acidosis |
|
Vomiting, Polydipsia, Diarrhea, Dehydration, Constipation |
ORPHA:18 |
Erdheim-Chester Disease |
|
Hyperhidrosis, Joint swelling, Polydipsia, Pleural effusion |
ORPHA:35687 |
Cystinosis, Nephropathic |
|
Dysphagia, Polydipsia, Primary hypothyroidism, Hypohidrosis, Oral-pharyngeal dysphagia, Exocrine ... |
OMIM:219800 |
Toxic Epidermal Necrolysis |
|
Dysphagia, Gastrointestinal hemorrhage, Pancreatitis, Polydipsia |
ORPHA:537 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Dysphagia, Polydipsia, Pancreatitis, Primary hyperparathyroidism, Constipation |
ORPHA:99880 |
Gitelman Syndrome |
|
Pericardial effusion, Primary hyperaldosteronism, Polydipsia, Constipation, Salt craving, Hyperhi... |
ORPHA:358 |
Parathyroid Carcinoma |
|
Dysphagia, Polydipsia, Pancreatitis, Primary hyperparathyroidism, Constipation |
ORPHA:143 |
Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Polydipsia |
ORPHA:769 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Constipation, Polydipsia |
ORPHA:3463 |
Juvenile Nephropathic Cystinosis |
|
Vomiting, Hypothyroidism, Dehydration, Polydipsia |
ORPHA:411634 |
Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Vomiting, Polyhydramnios, Hyperaldosteronism, Diarrhea, Dehydration, Constipation |
OMIM:241200 |
Senior-Boichis Syndrome |
|
Ascites, Polydipsia |
ORPHA:84081 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Polydipsia, Polyphagia, Gonadotropin deficiency, Hypohidrosis, Adrenocort... |
ORPHA:293987 |
Proximal Renal Tubular Acidosis |
|
Vomiting, Diarrhea, Dehydration, Polydipsia |
ORPHA:47159 |
Hypomagnesemia 3, Renal |
|
Polydipsia |
OMIM:248250 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Oligohydramnios, Polydipsia, Ascites |
ORPHA:731 |