Photoparoxysmal Response 1 |
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EEG with photoparoxysmal response |
OMIM:132100 |
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon |
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EEG abnormality |
OMIM:130200 |
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups |
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EEG abnormality |
OMIM:130300 |
Hyperaldosteronism, Familial, Type Iv |
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Hyperaldosteronism |
OMIM:617027 |
Hyperaldosteronism, Familial, Type Ii |
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Hyperaldosteronism |
OMIM:605635 |
Hyperaldosteronism, Familial, Type I |
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Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
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Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
Hypokalemic Tubulopathy And Deafness |
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Hyperaldosteronism, Increased circulating renin level |
OMIM:619406 |
Adrenocortical Carcinoma |
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Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
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Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
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Hyperaldosteronism, Increased circulating renin level |
OMIM:620126 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
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Hyperaldosteronism, Increased circulating renin level |
OMIM:620125 |
Periodic Fever, Menstrual Cycle-Dependent |
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Increased circulating cortisol level |
OMIM:614674 |
Familial Hyperaldosteronism Type Ii |
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Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
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Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circ... |
OMIM:177735 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
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Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism |
OMIM:264350 |
Hyperaldosteronism, Familial, Type Iii |
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Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Adrenal hyperplasia, Abnormal circulating renin, Athetosis, Hyperaldosteronism, Dexamethasone-sup... |
ORPHA:369929 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
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Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, Increased c... |
ORPHA:231625 |
Familial Hyperaldosteronism Type I |
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Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
Familial Hyperaldosteronism Type Iii |
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Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... |
ORPHA:251274 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
East Syndrome |
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Hyperaldosteronism, Ataxia, Increased circulating renin level |
ORPHA:199343 |
Glucocorticoid Deficiency 5 |
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Decreased circulating cortisol level, Abnormal response to ACTH stimulation test |
OMIM:617825 |
Ectopic Aldosterone-Producing Tumor |
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Glucocortocoid-insensitive primary hyperaldosteronism, Adrenocortical adenoma, Decreased circulat... |
ORPHA:231632 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Primary hyperaldosteronism, Athetosis, Decreased circulating renin level |
OMIM:615474 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
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Dysdiadochokinesis, Hyperaldosteronism, Ataxia, Increased circulating renin level |
OMIM:612780 |
Primary Unilateral Adrenal Hyperplasia |
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Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
Diarrhea 1, Secretory Chloride, Congenital |
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Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level |
OMIM:214700 |
Generalized Pseudohypoaldosteronism Type 1 |
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Abnormal circulating aldosterone, Glucocortocoid-insensitive primary hyperaldosteronism, Increase... |
ORPHA:171876 |
Bangstad Syndrome |
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Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol le... |
ORPHA:1227 |
Glucocorticoid Resistance, Generalized |
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Increased circulating cortisol level, Increased circulating androstenedione concentration, Increa... |
OMIM:615962 |
Glucocorticoid Deficiency 2 |
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Decreased circulating cortisol level, Increased circulating ACTH level |
OMIM:607398 |
Autoimmune Polyendocrinopathy Type 1 |
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Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Bartter Syndrome, Type 3 |
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Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level |
OMIM:607364 |
Andersen-Tawil Syndrome |
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Hyperaldosteronism |
ORPHA:37553 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
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Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... |
ORPHA:79644 |
Mccune-Albright Syndrome |
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Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Thymic Neuroendocrine Tumor |
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Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... |
ORPHA:97289 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
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Hyperaldosteronism |
OMIM:613090 |
Late-Onset Familial Hypoaldosteronism |
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Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556037 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... |
OMIM:219080 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
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Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... |
OMIM:615830 |
Gitelman Syndrome |
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Maternal diabetes, Hyperhidrosis, Diabetic ketoacidosis, Paresthesia, Type I diabetes mellitus, T... |
ORPHA:358 |
Bartter Syndrome, Type 1, Antenatal |
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Hyperparathyroidism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Paresthesia, Incre... |
OMIM:601678 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... |
ORPHA:534 |
Early-Onset Familial Hypoaldosteronism |
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Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556030 |
Multiple Endocrine Neoplasia, Type Iia |
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Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Hyperaldosteronism |
ORPHA:73224 |
Multiple Endocrine Neoplasia Type 4 |
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Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Bartter Syndrome, Type 2, Antenatal |
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Hyperactive renin-angiotensin system, Hyperaldosteronism, Paresthesia, Increased circulating reni... |
OMIM:241200 |
Multiple Endocrine Neoplasia, Type I |
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Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Secondary Intestinal Lymphangiectasia |
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Secondary hyperaldosteronism, Hypocholesterolemia |
ORPHA:90363 |
Leprechaunism |
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Hyperaldosteronism, Increased circulating renin level, Hyperinsulinemia, Central hypothyroidism |
ORPHA:508 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Hyperaldosteronism |
OMIM:602522 |
Bartter Syndrome Type 4 |
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Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level |
ORPHA:89938 |
Mccune-Albright Syndrome |
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Hyperthyroidism, Elevated circulating growth hormone concentration, Precocious puberty, Abnormali... |
ORPHA:562 |
Zollinger-Ellison Syndrome |
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Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Nelson Syndrome |
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Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... |
ORPHA:199244 |
Pituitary Apoplexy |
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Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Bronchial Neuroendocrine Tumor |
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Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... |
ORPHA:97287 |
Generalized Glucocorticoid Resistance Syndrome |
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Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Dietary Iron Overload Disease |
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Abnormal thyroid morphology, Increased circulating cortisol level, Diabetes mellitus, Abnormal ad... |
ORPHA:139507 |
Somatostatinoma |
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Diabetes mellitus, Elevated circulating growth hormone concentration, Abnormality of the thyroid ... |
ORPHA:97283 |
Multiple Endocrine Neoplasia Type 1 |
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Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Fibrous Dysplasia Of Bone |
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Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
Ppoma |
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Elevated circulating growth hormone concentration, Abnormality of the thyroid gland, Increased ci... |
ORPHA:97278 |
Grfoma |
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Elevated circulating growth hormone concentration, Neoplasm of the thymus, Abnormality of the thy... |
ORPHA:97261 |
Vipoma |
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Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating growth hormone concentratio... |
ORPHA:97282 |
Glucagonoma |
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Diabetes mellitus, Elevated circulating growth hormone concentration, Abnormality of the thyroid ... |
ORPHA:97280 |
Neuroendocrine Neoplasm Of Appendix |
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Primary hypercortisolism, Intestinal carcinoid, Increased serum serotonin, Adrenocorticotropic ho... |
ORPHA:100079 |
Cushing Disease |
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Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:99889 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... |
OMIM:201750 |
Carney Complex |
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Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ... |
ORPHA:1359 |
Pulmonary Hypertension, Primary, 4 |
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OMIM:615344 |