Pituitary Hormone Deficiency, Combined, 4 |
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Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test |
OMIM:262700 |
Combined Oxidative Phosphorylation Deficiency 50 |
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Adrenal insufficiency, Dysphagia |
OMIM:619025 |
Obesity Due To Prohormone Convertase I Deficiency |
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Hyperinsulinemia, Gonadotropin deficiency, Decreased response to growth hormone stimulation test,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Hyperinsulinemia, Gonadotropin deficiency, Decreased response to growth hormone stimulation test,... |
ORPHA:71526 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Adrenal insuffici... |
OMIM:609734 |
X-Linked Adrenoleukodystrophy |
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Hyperactivity, Adrenal insufficiency, Abnormality of adrenal physiology, Increased circulating AC... |
ORPHA:43 |
Adrenal Hypoplasia, Congenital |
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Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... |
OMIM:300200 |
Pituitary Hormone Deficiency, Combined, 2 |
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Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
Autoimmune Polyendocrinopathy Type 2 |
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Hypogonadism, Type I diabetes mellitus, Primary adrenal insufficiency, Graves disease, Hashimoto ... |
ORPHA:3143 |
Progressive Supranuclear Palsy |
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Impulsivity, Abnormal synaptic transmission, Dysphagia |
ORPHA:683 |
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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Anterior hypopituitarism, Adrenal insufficiency, Increased circulating gonadotropin level, Second... |
ORPHA:91349 |
Combined Oxidative Phosphorylation Deficiency 52 |
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Adrenal insufficiency, Pancreatitis |
OMIM:619386 |
Glycerol Kinase Deficiency |
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Adrenal insufficiency, Adrenocortical hypoplasia |
OMIM:307030 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
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Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess |
OMIM:613743 |
Autoimmune Polyendocrinopathy Type 1 |
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Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... |
ORPHA:3453 |
Isolated Anencephaly/Exencephaly |
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Primary adrenal insufficiency |
ORPHA:1048 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Elevated circulating thyroid-stimulating hormone concentration, Hypergonadotropic hypogonadism, P... |
OMIM:617872 |
Triple A Syndrome |
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Anterior hypopituitarism, Adrenal insufficiency |
ORPHA:869 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Female hypogonadism, Hypothyroidism, Decreased circulating aldosterone level, Adrenal insufficien... |
OMIM:240300 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
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Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism |
OMIM:264350 |
Hypoadrenocorticism, Familial |
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Adrenal insufficiency, Adrenal hypoplasia |
OMIM:240200 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
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Hyperactive renin-angiotensin system, Hyperaldosteronism, Pseudohypoaldosteronism, Increased circ... |
OMIM:177735 |
Pseudohypoaldosteronism, Type Iia |
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Pseudohypoaldosteronism |
OMIM:145260 |
Immunodeficiency 54 |
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Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:609981 |
Neonatal Adrenoleukodystrophy |
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Abnormality of neuronal migration, Primary adrenal insufficiency |
ORPHA:44 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Adrenocorticotropi... |
ORPHA:90793 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
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Small pituitary gland, Delayed puberty, Hypogonadotropic hypogonadism, Central adrenal insufficiency |
OMIM:612079 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Decreased response to gro... |
ORPHA:98754 |
Panhypophysitis |
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Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95513 |
Wolman Disease |
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Adrenal insufficiency, Adrenal calcification |
ORPHA:75233 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Decreased response to gro... |
ORPHA:98793 |
Familial Glucocorticoid Deficiency |
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Precocious puberty, Decreased circulating aldosterone level, Decreased circulating dehydroepiandr... |
ORPHA:361 |
Flynn-Aird Syndrome |
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Type II diabetes mellitus, Abnormality of the thyroid gland, Primary adrenal insufficiency |
ORPHA:2047 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Decreased response to gro... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Decreased response to gro... |
ORPHA:177901 |
Aa Amyloidosis |
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Adrenal insufficiency, Hypothyroidism |
ORPHA:85445 |
Prader-Willi-Like Syndrome |
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Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Decreased response to gro... |
ORPHA:398073 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating aldosterone le... |
OMIM:231550 |
Nephrotic Syndrome, Type 14 |
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Adrenal insufficiency, Hypothyroidism, Hypogonadism |
OMIM:617575 |
Prader-Willi Syndrome |
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Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Decreased response to gro... |
ORPHA:739 |
Prolactinoma |
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Female hypogonadism, Hypogonadism, Anterior hypopituitarism, Decreased circulating ACTH level, Ad... |
ORPHA:2965 |
Ane Syndrome |
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Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... |
ORPHA:157954 |
Adenohypophysitis |
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Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
Adrenoleukodystrophy |
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Hypogonadism, Attention deficit hyperactivity disorder, Primary adrenal insufficiency |
OMIM:300100 |
Beta-Thalassemia Intermedia |
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Hypothyroidism, Hypogonadism, Adrenal insufficiency, Diabetes mellitus, Hypoparathyroidism |
ORPHA:231222 |
Myasthenia Gravis |
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Hyperthyroidism, Primary adrenal insufficiency, Abnormality of the thymus, Hashimoto thyroiditis,... |
ORPHA:589 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism |
ORPHA:300298 |
Sheehan Syndrome |
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Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Decreased c... |
ORPHA:91355 |
Prader-Willi Syndrome |
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Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Adre... |
OMIM:176270 |
Pseudohypoaldosteronism, Type Iib |
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Pseudohypoaldosteronism |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
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Pseudohypoaldosteronism |
OMIM:614495 |
Xp21 Deletion Syndrome |
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Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency |
ORPHA:261476 |
Addison Disease |
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Thymoma, Decreased circulating aldosterone level, Increased circulating ACTH level, Decreased cir... |
ORPHA:85138 |
Craniopharyngioma |
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Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Neoplasm o... |
ORPHA:54595 |
Pseudohypoaldosteronism, Type Iic |
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Decreased circulating renin level, Pseudohypoaldosteronism |
OMIM:614492 |
Distal Monosomy 13Q |
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Primary adrenal insufficiency |
ORPHA:1590 |
Pseudohypoaldosteronism, Type Iie |
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Pseudohypoaldosteronism |
OMIM:614496 |
Dominant Beta-Thalassemia |
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Hypothyroidism, Adrenal insufficiency, Hypopituitarism, Diabetes mellitus, Delayed puberty, Hypop... |
ORPHA:231226 |
Tsh-Secreting Pituitary Adenoma |
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Enlarged pituitary gland, Euthyroid hyperthyroxinemia, Increased circulating gonadotropin level, ... |
ORPHA:91347 |
Peroxisome Biogenesis Disorder 2B |
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Adrenal insufficiency |
OMIM:202370 |
Familial Hypoaldosteronism |
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Adrenal insufficiency, Increased circulating renin level, Decreased circulating aldosterone level |
ORPHA:427 |
Corticosterone Methyloxidase Type Ii Deficiency |
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Increased circulating corticosterone level, Increased circulating renin level, Increased circulat... |
OMIM:610600 |
Lysosomal Acid Lipase Deficiency |
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Adrenal insufficiency, Adrenal calcification |
OMIM:278000 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
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Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:605115 |
Acute Adrenal Insufficiency |
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Decreased circulating aldosterone level, Increased circulating ACTH level, Decreased circulating ... |
ORPHA:95409 |
Late-Onset Familial Hypoaldosteronism |
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Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... |
ORPHA:556037 |
X-Linked Cerebral Adrenoleukodystrophy |
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Hyperactivity, Decreased circulating cortisol level, Primary adrenal insufficiency, Male hypogona... |
ORPHA:139396 |
Immunodeficiency, Common Variable, 10 |
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Decreased response to growth hormone stimulation test, Abnormal response to ACTH stimulation test... |
OMIM:615577 |
Mirage Syndrome |
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Adrenal insufficiency, Hypergonadotropic hypogonadism, Adrenal hypoplasia |
OMIM:617053 |
Adrenomyeloneuropathy |
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Adrenal insufficiency, Adrenocortical abnormality, Adrenocorticotropic hormone excess, Primary ad... |
ORPHA:139399 |
Congenital Isolated Acth Deficiency |
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Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal i... |
ORPHA:199296 |
Early-Onset Familial Hypoaldosteronism |
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Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... |
ORPHA:556030 |
Beta-Thalassemia Major |
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Hypothyroidism, Adrenal insufficiency, Hypopituitarism, Diabetes mellitus, Delayed puberty, Hypop... |
ORPHA:231214 |
Kearns-Sayre Syndrome |
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Diabetes mellitus, Hypoparathyroidism, Primary adrenal insufficiency |
OMIM:530000 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
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Adrenal insufficiency, Hypohidrosis, Dysphagia |
OMIM:615510 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Absence of secondary... |
ORPHA:289548 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... |
ORPHA:90791 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
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Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... |
OMIM:201810 |
Adrenomyodystrophy |
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Primary adrenal insufficiency |
ORPHA:977 |
Zellweger Syndrome |
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Primary adrenal insufficiency, Polymicrogyria |
ORPHA:912 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Thymoma, Hypothyroidism, Hyperthyroidism, Type II diabetes mellitus, Primary adrenal insufficienc... |
OMIM:269200 |
Poems Syndrome |
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Hypothyroidism, Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insu... |
ORPHA:2905 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Absence of secondary... |
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, Diabetes insipidus, Increased circulating prolactin concentration, Ante... |
ORPHA:91350 |
Corticosterone Methyloxidase Type I Deficiency |
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Increased circulating renin level, Decreased circulating aldosterone level |
OMIM:203400 |
Late-Onset Isolated Acth Deficiency |
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Decreased circulating ACTH level, Decreased circulating cortisol level, Pituitary adenoma, Type I... |
ORPHA:199299 |
Liddle Syndrome 2 |
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Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:618114 |
Carney Triad |
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Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma |
ORPHA:139411 |
Autoimmune Polyendocrinopathy Type 3 |
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Thymoma, Autoimmune hypoparathyroidism, Anterior pituitary dysgenesis, Type I diabetes mellitus, ... |
ORPHA:227982 |
Pearson Syndrome |
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Hypothyroidism, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Dia... |
ORPHA:699 |
Tbck-Related Intellectual Disability Syndrome |
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Hypothyroidism, Hyperthyroidism, Decreased response to growth hormone stimulation test, Central a... |
ORPHA:488632 |
46,Xy Partial Gonadal Dysgenesis |
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Primary gonadal insufficiency, Decreased serum estradiol, Absence of secondary sex characteristic... |
ORPHA:251510 |
Apparent Mineralocorticoid Excess |
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Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:218030 |
Autoimmune Polyendocrinopathy Type 4 |
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Thymoma, Anterior pituitary dysgenesis, Type I diabetes mellitus, Primary adrenal insufficiency, ... |
ORPHA:227990 |
Liddle Syndrome 1 |
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Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:177200 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... |
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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Precocious puberty in females, Elevated circulating 17-hydroxyprogesterone concentration, Decreas... |
ORPHA:90794 |
Peroxisome Biogenesis Disorder 4B |
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Adrenal insufficiency |
OMIM:614863 |
D-Bifunctional Protein Deficiency |
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Primary adrenal insufficiency, Polymicrogyria |
OMIM:261515 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:293978 |
Generalized Glucocorticoid Resistance Syndrome |
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Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... |
ORPHA:786 |
Crimean-Congo Hemorrhagic Fever |
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Hyperhidrosis, Adrenal insufficiency, Agitation, Acute pancreatitis, Parotitis, Orchitis, Inappro... |
ORPHA:99827 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test, Pineal... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test, Pineal... |
ORPHA:363958 |
Acute Liver Failure |
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Adrenal insufficiency, Agitation |
ORPHA:90062 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Decreased circulating progesterone, Elevated circulating 17-hydroxyprogesterone concentration, De... |
OMIM:201750 |
Lysosomal Acid Lipase Deficiency |
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Adrenal calcification, Primary adrenal insufficiency |
ORPHA:275761 |
Microphthalmia, Syndromic 2 |
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Adrenal insufficiency, Hypothyroidism |
OMIM:300166 |
Pallister-Hall Syndrome |
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Precocious puberty, Gonadotropin deficiency, Hypopituitarism, Thyroid hypoplasia, Panhypopituitar... |
ORPHA:672 |
Orofaciodigital Syndrome Type 4 |
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Primary adrenal insufficiency |
ORPHA:2753 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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ORPHA:522077 |
Baker-Gordon Syndrome |
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|
OMIM:618218 |