Pituitary Hormone Deficiency, Combined, 4 |
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Hypothyroidism, Adrenal insufficiency, 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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Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
X-Linked Adrenoleukodystrophy |
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Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Adrenal insufficiency, Disi... |
ORPHA:43 |
Adrenal Hypoplasia, Congenital |
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Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Pituitary Hormone Deficiency, Combined, 2 |
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Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Combined Oxidative Phosphorylation Deficiency 52 |
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Adrenal insufficiency, Pancreatitis, Anorexia |
OMIM:619386 |
Progressive Supranuclear Palsy |
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Impulsivity, Dysphagia, Abnormal synaptic transmission |
ORPHA:683 |
Autoimmune Polyendocrinopathy Type 2 |
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Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... |
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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Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
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Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
Autoimmune Polyendocrinopathy Type 1 |
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Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy... |
OMIM:617872 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98793 |
Triple A Syndrome |
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Anterior hypopituitarism, Adrenal insufficiency |
ORPHA:869 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177901 |
Familial Glucocorticoid Deficiency |
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Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
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Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism |
OMIM:264350 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98754 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Decreas... |
OMIM:240300 |
Hypoadrenocorticism, Familial |
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Adrenal insufficiency, Adrenal hypoplasia |
OMIM:240200 |
Pseudohypoaldosteronism, Type Iia |
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Pseudohypoaldosteronism |
OMIM:145260 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
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Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circ... |
OMIM:177735 |
Immunodeficiency 54 |
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Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:609981 |
Neonatal Adrenoleukodystrophy |
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Primary adrenal insufficiency, Abnormality of neuronal migration |
ORPHA:44 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube... |
ORPHA:90793 |
Isolated Anencephaly/Exencephaly |
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Primary adrenal insufficiency |
ORPHA:1048 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
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Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty |
OMIM:612079 |
Panhypophysitis |
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Decreased circulating cortisol level, Polydipsia, Reduced circulating prolactin concentration, Ad... |
ORPHA:95513 |
Wolman Disease |
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Adrenal insufficiency, Adrenal calcification |
ORPHA:75233 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Adrenocorticotropin receptor defect, Decreased circulating cortisol level, Decreased circulating ... |
OMIM:231550 |
Flynn-Aird Syndrome |
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Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus |
ORPHA:2047 |
Aa Amyloidosis |
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Hypothyroidism, Adrenal insufficiency |
ORPHA:85445 |
Reni Syndrome |
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Hypogonadism, Hypothyroidism, Adrenal insufficiency |
OMIM:617575 |
Prader-Willi Syndrome |
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Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... |
ORPHA:739 |
Prader-Willi Syndrome |
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Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
Ane Syndrome |
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Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:157954 |
Prolactinoma |
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Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
Addison Disease |
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Hypoparathyroidism, Decreased circulating cortisol level, Salt craving, Adrenal calcification, Ad... |
ORPHA:85138 |
Adenohypophysitis |
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Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
Sheehan Syndrome |
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Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:91355 |
Beta-Thalassemia Intermedia |
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Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Hypothyroidism |
ORPHA:231222 |
Myasthenia Gravis |
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Hyperthyroidism, Primary adrenal insufficiency, Abnormal thymus morphology, Dysphagia, Hashimoto ... |
ORPHA:589 |
Adrenoleukodystrophy |
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Hypogonadism, Primary adrenal insufficiency, Attention deficit hyperactivity disorder |
OMIM:300100 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Adrenal insufficiency |
ORPHA:300298 |
Craniopharyngioma |
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Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Acute Adrenal Insufficiency |
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Decreased circulating cortisol level, Salt craving, Adrenal hypoplasia, Anorexia, Primary adrenal... |
ORPHA:95409 |
Xp21 Deletion Syndrome |
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Primary adrenal insufficiency, Hypogonadotropic hypogonadism, Adrenal insufficiency |
ORPHA:261476 |
Pseudohypoaldosteronism, Type Iib |
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Pseudohypoaldosteronism |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
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Pseudohypoaldosteronism |
OMIM:614495 |
Pseudohypoaldosteronism, Type Iic |
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Pseudohypoaldosteronism, Decreased circulating renin level |
OMIM:614492 |
Carney Triad |
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Anorexia, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Adrenal overactivity |
ORPHA:139411 |
Dominant Beta-Thalassemia |
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Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H... |
ORPHA:231226 |
Tsh-Secreting Pituitary Adenoma |
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Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Pseudohypoaldosteronism, Type Iie |
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Pseudohypoaldosteronism |
OMIM:614496 |
Peroxisome Biogenesis Disorder 2B |
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Adrenal insufficiency |
OMIM:202370 |
Familial Hypoaldosteronism |
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Decreased circulating aldosterone level, Adrenal insufficiency, Increased circulating renin level |
ORPHA:427 |
Corticosterone Methyloxidase Type Ii Deficiency |
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Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... |
OMIM:610600 |
Cholesteryl Ester Storage Disease |
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Adrenal insufficiency, Adrenal calcification |
OMIM:278000 |
Late-Onset Familial Hypoaldosteronism |
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Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556037 |
Immunodeficiency, Common Variable, 10 |
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Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... |
OMIM:615577 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
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Adrenal insufficiency, Dysphagia, Hypohidrosis |
OMIM:615510 |
Mirage Syndrome |
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Hypergonadotropic hypogonadism, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:617053 |
X-Linked Cerebral Adrenoleukodystrophy |
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Hyperactivity, Decreased circulating cortisol level, Primary adrenal insufficiency, Dysphagia, Ma... |
ORPHA:139396 |
Late-Onset Isolated Acth Deficiency |
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Hypoparathyroidism, Decreased circulating cortisol level, Anorexia, Decreased circulating ACTH co... |
ORPHA:199299 |
Congenital Isolated Acth Deficiency |
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Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insufficiency, Adrena... |
ORPHA:199296 |
Adrenomyeloneuropathy |
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Primary adrenal insufficiency, Adrenocortical abnormality, Adrenal insufficiency, Adrenocorticotr... |
ORPHA:139399 |
Early-Onset Familial Hypoaldosteronism |
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Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556030 |
Beta-Thalassemia Major |
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Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H... |
ORPHA:231214 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
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Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Distal Deletion 13Q |
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Primary adrenal insufficiency |
ORPHA:1590 |
Kearns-Sayre Syndrome |
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Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency |
OMIM:530000 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... |
ORPHA:289548 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
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Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentration, Increase... |
OMIM:201810 |
Zellweger Syndrome |
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Polymicrogyria, Primary adrenal insufficiency |
ORPHA:912 |
Adrenomyodystrophy |
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Primary adrenal insufficiency |
ORPHA:977 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... |
ORPHA:168558 |
Apparent Mineralocorticoid Excess |
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Polydipsia, Decreased circulating aldosterone level, Abnormality of circulating cortisol level, D... |
ORPHA:320 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... |
OMIM:269200 |
Poems Syndrome |
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Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadi... |
ORPHA:2905 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Corticosterone Methyloxidase Type I Deficiency |
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Decreased circulating aldosterone level, Increased circulating renin level |
OMIM:203400 |
Liddle Syndrome 2 |
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Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
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Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618126 |
Autoimmune Polyendocrinopathy Type 3 |
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Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Xerostomia, Primary adrenal insuff... |
ORPHA:227982 |
Liddle Syndrome 1 |
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Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:177200 |
Pearson Syndrome |
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Hypoparathyroidism, Diabetes mellitus, Decreased response to growth hormone stimulation test, Adr... |
ORPHA:699 |
Autoimmune Polyendocrinopathy Type 4 |
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Hypergonadotropic hypogonadism, Xerostomia, Primary adrenal insufficiency, Thymoma, Anterior pitu... |
ORPHA:227990 |
Apparent Mineralocorticoid Excess |
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Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:218030 |
46,Xy Partial Gonadal Dysgenesis |
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Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Inc... |
ORPHA:251510 |
Tbck-Related Intellectual Disability Syndrome |
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Central adrenal insufficiency, Hyperthyroidism, Hypothyroidism, Decreased response to growth horm... |
ORPHA:488632 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
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Central adrenal insufficiency, Decreased response to growth hormone stimulation test |
OMIM:616007 |
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 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female... |
ORPHA:90794 |
Peroxisome Biogenesis Disorder 4B |
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Adrenal insufficiency |
OMIM:614863 |
D-Bifunctional Protein Deficiency |
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Polymicrogyria, Primary adrenal insufficiency |
OMIM:261515 |
Glycerol Kinase Deficiency |
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Adrenocortical hypoplasia, Adrenal insufficiency, Chronic pancreatitis |
OMIM:307030 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... |
ORPHA:293978 |
Crimean-Congo Hemorrhagic Fever |
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Acute pancreatitis, Anorexia, Orchitis, Hyperhidrosis, Adrenal insufficiency, Agitation, Inapprop... |
ORPHA:99827 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Decreased response to growth hormone stimulation test, Precocious puberty, Primary adrenal insuff... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Decreased response to growth hormone stimulation test, Precocious puberty, Primary adrenal insuff... |
ORPHA:363958 |
Generalized Glucocorticoid Resistance Syndrome |
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Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... |
OMIM:201750 |
Pallister-Hall Syndrome |
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Adrenal hypoplasia, Precocious puberty, Adrenocorticotropic hormone deficiency, Paroxysmal bursts... |
ORPHA:672 |
Acute Liver Failure |
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Agitation, Adrenal insufficiency |
ORPHA:90062 |
Lysosomal Acid Lipase Deficiency |
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Primary adrenal insufficiency, Adrenal calcification |
ORPHA:275761 |
Microphthalmia, Syndromic 2 |
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Hypothyroidism, Adrenal insufficiency |
OMIM:300166 |
Orofaciodigital Syndrome Type 4 |
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Primary adrenal insufficiency |
ORPHA:2753 |
Baker-Gordon Syndrome |
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Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:618218 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting |
ORPHA:522077 |