Adrenal Hypoplasia, Cytomegalic Type |
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Primary adrenal insufficiency, Congenital adrenal hypoplasia |
OMIM:202155 |
Pituitary Hormone Deficiency, Combined, 4 |
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Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypothyroidism |
OMIM:262700 |
Combined Oxidative Phosphorylation Deficiency 50 |
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Adrenal insufficiency, Dysphagia |
OMIM:619025 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
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Adrenal insufficiency, Central adrenal insufficiency, Delayed puberty, Hypogonadism |
OMIM:612079 |
Hypersecretion Of Adrenal Androgens, Familial |
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Adrenal overactivity, Premature pubarche, Increased circulating androgen concentration |
OMIM:145295 |
Obesity Due To Prohormone Convertase I Deficiency |
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Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71526 |
Pituitary Hormone Deficiency, Combined, 2 |
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Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... |
OMIM:262600 |
Adrenal Hypoplasia, Congenital |
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Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
OMIM:300200 |
Autoimmune Polyendocrinopathy Type 2 |
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Hypoparathyroidism, Abnormality of the thyroid gland, Graves disease, Primary adrenal insufficien... |
ORPHA:3143 |
8P23.1 Duplication Syndrome |
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Adrenal insufficiency |
ORPHA:251076 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
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Adrenal insufficiency |
OMIM:618238 |
Non-Functioning Pituitary Adenoma |
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Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Abnormality of the pitui... |
ORPHA:91349 |
Glycerol Kinase Deficiency |
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Adrenal insufficiency, Adrenocortical hypoplasia |
OMIM:307030 |
Combined Oxidative Phosphorylation Deficiency 52 |
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Adrenal insufficiency, Pancreatitis |
OMIM:619386 |
Progressive Supranuclear Palsy |
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Dysphagia, Abnormal synaptic transmission |
ORPHA:683 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
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Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess |
OMIM:613743 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Primary adrenal insufficiency, Hypogonadism |
OMIM:617872 |
Adrenocortical Hypofunction, Chronic Primary Congenital |
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Adrenal insufficiency, Decreased circulating cortisol level |
OMIM:103230 |
Autoimmune Polyendocrinopathy Type 1 |
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Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... |
ORPHA:3453 |
Adrenomyodystrophy |
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Primary adrenal insufficiency, Pituitary corticotropic cell adenoma |
OMIM:300270 |
Isolated Anencephaly/Exencephaly |
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Primary adrenal insufficiency |
ORPHA:1048 |
Triple A Syndrome |
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Adrenal insufficiency, Anterior hypopituitarism |
ORPHA:869 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Hypoparathyroidism, Decreased circulating parathyroid hormone level, Decreased circulating aldost... |
OMIM:240300 |
X-Linked Adrenoleukodystrophy |
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Adrenal insufficiency, Increased circulating ACTH level, Abnormality of adrenal physiology |
ORPHA:43 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
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Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, Increased circ... |
OMIM:177735 |
Immunodeficiency 54 |
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Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:609981 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
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Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism |
OMIM:264350 |
Hypoadrenocorticism, Familial |
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Adrenal insufficiency, Adrenal hypoplasia |
OMIM:240200 |
Neonatal Adrenoleukodystrophy |
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Abnormality of neuronal migration, Primary adrenal insufficiency |
ORPHA:44 |
Pseudohypoaldosteronism, Type Iia |
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Pseudohypoaldosteronism |
OMIM:145260 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Increased circulating gonadotropin level, Decreased circulating aldosterone level, Precocious pub... |
ORPHA:90793 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Perisylvian polymicrogyria, Decreased circulating T4 concentration, Precocious puberty, Central a... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Perisylvian polymicrogyria, Decreased circulating T4 concentration, Precocious puberty, Central a... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Perisylvian polymicrogyria, Decreased circulating T4 concentration, Precocious puberty, Central a... |
ORPHA:177904 |
Nephrotic Syndrome, Type 14 |
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Adrenal insufficiency, Hypothyroidism, Hypogonadism |
OMIM:617575 |
Wolman Disease |
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Adrenal insufficiency, Adrenal calcification |
ORPHA:75233 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Perisylvian polymicrogyria, Decreased circulating T4 concentration, Precocious puberty, Central a... |
ORPHA:177901 |
Panhypophysitis |
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Adrenocorticotropic hormone deficiency, Polydipsia, Decreased serum testosterone concentration, R... |
ORPHA:95513 |
Familial Glucocorticoid Deficiency |
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Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
ORPHA:361 |
Flynn-Aird Syndrome |
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Primary adrenal insufficiency, Abnormality of the thyroid gland, Type II diabetes mellitus |
ORPHA:2047 |
Aa Amyloidosis |
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Adrenal insufficiency, Hypothyroidism |
ORPHA:85445 |
Prader-Willi-Like Syndrome |
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Perisylvian polymicrogyria, Abnormality of the endocrine system, Precocious puberty, Decreased ci... |
ORPHA:398073 |
Prolactinoma |
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Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Elevated circulating ... |
ORPHA:2965 |
Prader-Willi Syndrome |
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Perisylvian polymicrogyria, Precocious puberty, Central adrenal insufficiency, Small pituitary gl... |
ORPHA:739 |
Ane Syndrome |
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Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... |
ORPHA:157954 |
Myasthenia Gravis |
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Hyperthyroidism, Primary adrenal insufficiency, Abnormality of the thymus, Hashimoto thyroiditis,... |
ORPHA:589 |
Adenohypophysitis |
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Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95512 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism |
ORPHA:300298 |
Sheehan Syndrome |
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Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... |
ORPHA:91355 |
Pseudohypoaldosteronism, Type Iib |
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Pseudohypoaldosteronism |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
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Pseudohypoaldosteronism |
OMIM:614495 |
Craniopharyngioma |
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Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Hypogonadotro... |
ORPHA:54595 |
Addison Disease |
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Hypoparathyroidism, Thymoma, Decreased circulating aldosterone level, Decreased circulating corti... |
ORPHA:85138 |
Xp21 Deletion Syndrome |
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Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency |
ORPHA:261476 |
Beta-Thalassemia Intermedia |
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Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Diabetes mellitus, Hypogonadism |
ORPHA:231222 |
Prader-Willi Syndrome |
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Adrenal insufficiency, Precocious puberty, Type II diabetes mellitus, Hyperinsulinemia, Decreased... |
OMIM:176270 |
Distal Monosomy 13Q |
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Primary adrenal insufficiency |
ORPHA:1590 |
Pseudohypoaldosteronism, Type Iic |
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Pseudohypoaldosteronism |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
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Pseudohypoaldosteronism |
OMIM:614496 |
Tsh-Secreting Pituitary Adenoma |
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Central adrenal insufficiency, Increased circulating prolactin concentration, Euthyroid hyperthyr... |
ORPHA:91347 |
Dominant Beta-Thalassemia |
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Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Diabetes mellitus, Hy... |
ORPHA:231226 |
Familial Hypoaldosteronism |
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Adrenal insufficiency, Decreased circulating aldosterone level, Increased circulating renin level |
ORPHA:427 |
Lysosomal Acid Lipase Deficiency |
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Adrenal insufficiency, Adrenal calcification |
OMIM:278000 |
Peroxisome Biogenesis Disorder 2B |
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Adrenal insufficiency |
OMIM:202370 |
Acute Adrenal Insufficiency |
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Decreased circulating aldosterone level, Decreased circulating cortisol level, Increased circulat... |
ORPHA:95409 |
Corticosterone Methyloxidase Type Ii Deficiency |
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Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... |
OMIM:610600 |
Congenital Isolated Acth Deficiency |
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Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal i... |
ORPHA:199296 |
Late-Onset Familial Hypoaldosteronism |
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Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... |
ORPHA:556037 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
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Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:605115 |
Immunodeficiency, Common Variable, 10 |
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Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re... |
OMIM:615577 |
Adrenomyeloneuropathy |
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Adrenal insufficiency, Primary adrenal insufficiency, Adrenocorticotropic hormone excess, Adrenoc... |
ORPHA:139399 |
Early-Onset Familial Hypoaldosteronism |
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Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... |
ORPHA:556030 |
Beta-Thalassemia Major |
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Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Diabetes mellitus, Hy... |
ORPHA:231214 |
Kearns-Sayre Syndrome |
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Hypoparathyroidism, Primary adrenal insufficiency, Diabetes mellitus |
OMIM:530000 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin... |
ORPHA:289548 |
Alacrima, Achalasia, And Mental Retardation Syndrome |
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Adrenal insufficiency, Dysphagia, Hypohidrosis |
OMIM:615510 |
Adrenoleukodystrophy |
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Primary adrenal insufficiency, Hypogonadism |
OMIM:300100 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency |
ORPHA:977 |
Zellweger Syndrome |
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Primary adrenal insufficiency, Polymicrogyria |
ORPHA:912 |
Poems Syndrome |
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Abnormality of the endocrine system, Increased circulating prolactin concentration, Primary adren... |
ORPHA:2905 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... |
ORPHA:90791 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Hypothyro... |
OMIM:269200 |
X-Linked Cerebral Adrenoleukodystrophy |
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Decreased circulating cortisol level, Primary adrenal insufficiency, Dysphagia, Male hypogonadism |
ORPHA:139396 |
Mirage Syndrome |
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Hypergonadotropic hypogonadism, Adrenal insufficiency |
OMIM:617053 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin... |
ORPHA:168558 |
Apparent Mineralocorticoid Excess |
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Decreased circulating renin level, Decreased circulating aldosterone level, Polydipsia, Abnormali... |
ORPHA:320 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anterior hypopituita... |
ORPHA:91350 |
Corticosterone Methyloxidase Type I Deficiency |
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Decreased circulating aldosterone level, Increased circulating renin level |
OMIM:203400 |
Late-Onset Isolated Acth Deficiency |
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Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Graves disease, Pituitary adenoma, De... |
ORPHA:199299 |
Carney Triad |
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Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Adrenal overactivity |
ORPHA:139411 |
Liddle Syndrome 2 |
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Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:618114 |
Pearson Syndrome |
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Hypoparathyroidism, Adrenal insufficiency, Exocrine pancreatic insufficiency, Decreased response ... |
ORPHA:699 |
46,Xy Partial Gonadal Dysgenesis |
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Adrenal insufficiency, Decreased serum testosterone concentration, Streak ovary, Hypergonadotropi... |
ORPHA:251510 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te... |
ORPHA:293978 |
Tbck-Related Intellectual Disability Syndrome |
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Hypothyroidism, Decreased response to growth hormone stimulation test, Central adrenal insufficie... |
ORPHA:488632 |
Apparent Mineralocorticoid Excess |
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Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:218030 |
Liddle Syndrome 1 |
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Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:177200 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Decreased circulating cortisol level, Decreased circulating aldosterone level, Adrenocorticotropi... |
OMIM:231550 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Increased serum testosterone level, Decreased circulating aldosterone level, Elevated serum 11-de... |
OMIM:202010 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
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Decreased response to growth hormone stimulation test, Central adrenal insufficiency |
OMIM:616007 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Hyperactive renin-angiotensin system, Increased serum testosterone level, Decreased circulating a... |
ORPHA:90794 |
Peroxisome Biogenesis Disorder 4B |
|
Adrenal insufficiency |
OMIM:614863 |
D-Bifunctional Protein Deficiency |
|
Primary adrenal insufficiency, Polymicrogyria |
OMIM:261515 |
Generalized Glucocorticoid Resistance Syndrome |
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Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... |
ORPHA:786 |
Crimean-Congo Hemorrhagic Fever |
|
Adrenal insufficiency, Orchitis, Inappropriate antidiuretic hormone secretion, Hyperhidrosis, Acu... |
ORPHA:99827 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Hypothyroidism, Primar... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Hypothyroidism, Primar... |
ORPHA:363958 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Primary adrenal insufficiency |
ORPHA:275761 |
Microphthalmia, Syndromic 2 |
|
Adrenal insufficiency, Hypothyroidism |
OMIM:300166 |
Pallister-Hall Syndrome |
|
Adrenocorticotropic hormone deficiency, Precocious puberty, Abnormal prolactin level, Central adr... |
ORPHA:672 |
Acute Liver Failure |
|
Adrenal insufficiency |
ORPHA:90062 |
Orofaciodigital Syndrome Type 4 |
|
Primary adrenal insufficiency |
ORPHA:2753 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
|
ORPHA:522077 |
Baker-Gordon Syndrome |
|
|
OMIM:618218 |