Pituitary Hormone Deficiency, Combined, 4 |
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Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidism |
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, Hyperinsulinemia, Central adrenal insuffic... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... |
ORPHA:71526 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Decreased response to growth hormone stimulation test, Adrenal insufficiency, Decreased growth ho... |
OMIM:609734 |
X-Linked Adrenoleukodystrophy |
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Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level, Disin... |
ORPHA:43 |
Combined Oxidative Phosphorylation Deficiency 52 |
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Adrenal insufficiency, Pancreatitis, Anorexia |
OMIM:619386 |
Adrenal Hypoplasia, Congenital |
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Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... |
OMIM:300200 |
Pituitary Hormone Deficiency, Combined, 2 |
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Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
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 |
Autoimmune Polyendocrinopathy Type 2 |
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Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... |
ORPHA:3143 |
Progressive Supranuclear Palsy |
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Dysphagia, Impulsivity, Abnormal synaptic transmission |
ORPHA:683 |
Non-Functioning Pituitary Adenoma |
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Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... |
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 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy... |
OMIM:617872 |
Autoimmune Polyendocrinopathy Type 1 |
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Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... |
ORPHA:3453 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Self-injurious behavior, Abnormal temper tantrums, Premature adrenarche, Precocious puberty, Decr... |
ORPHA:98793 |
Familial Glucocorticoid Deficiency |
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Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... |
ORPHA:361 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Self-injurious behavior, Abnormal temper tantrums, Premature adrenarche, Precocious puberty, Decr... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Self-injurious behavior, Abnormal temper tantrums, Premature adrenarche, Precocious puberty, Decr... |
ORPHA:177901 |
Triple A Syndrome |
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Adrenal insufficiency, Anterior hypopituitarism |
ORPHA:869 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Self-injurious behavior, Abnormal temper tantrums, Premature adrenarche, Precocious puberty, Decr... |
ORPHA:98754 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Male hypogonadism, Type I diabetes mellitus, Adrenal insufficiency, Primary adrenal insufficiency... |
OMIM:240300 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
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Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism |
OMIM:264350 |
Immunodeficiency 54 |
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Adrenocorticotropic hormone excess, Adrenal insufficiency |
OMIM:609981 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
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Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Increased circ... |
OMIM:177735 |
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 urinary 11-deoxycorticosterone level, Elevated circulating luteinizing hormone level, M... |
ORPHA:90793 |
Glucocorticoid Deficiency 3 |
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Abnormal circulating renin, Increased circulating ACTH level, Decreased circulating aldosterone l... |
OMIM:609197 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
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Small pituitary gland, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Delayed puberty |
OMIM:612079 |
Isolated Anencephaly/Exencephaly |
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Primary adrenal insufficiency |
ORPHA:1048 |
Panhypophysitis |
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Decreased serum estradiol, Secondary growth hormone deficiency, Polydipsia, Adrenocorticotropin d... |
ORPHA:95513 |
Wolman Disease |
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Adrenal calcification, Adrenal insufficiency |
ORPHA:75233 |
Aa Amyloidosis |
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Adrenal insufficiency, Hypothyroidism |
ORPHA:85445 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Decreased circulating cortisol level, Adrenal insufficiency, Adrenocorticotropin receptor defect,... |
OMIM:231550 |
Flynn-Aird Syndrome |
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Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland |
ORPHA:2047 |
Reni Syndrome |
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Hypogonadism, Adrenal insufficiency, Hypothyroidism |
OMIM:617575 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
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Abnormality of adrenal physiology |
OMIM:300858 |
Prader-Willi Syndrome |
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Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... |
ORPHA:739 |
Ane Syndrome |
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Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... |
ORPHA:157954 |
Prader-Willi Syndrome |
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Self-injurious behavior, Precocious puberty, Decreased response to growth hormone stimulation tes... |
OMIM:176270 |
Addison Disease |
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Thymoma, Type I diabetes mellitus, Androgen insufficiency, Adrenal calcification, Increased circu... |
ORPHA:85138 |
Adenohypophysitis |
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Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
Adrenoleukodystrophy |
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Hypogonadism, Attention deficit hyperactivity disorder, Primary adrenal insufficiency |
OMIM:300100 |
Prolactinoma |
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Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins... |
ORPHA:2965 |
Sheehan Syndrome |
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Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:91355 |
Beta-Thalassemia Intermedia |
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Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypoparathyroidism, Diabetes mellitus |
ORPHA:231222 |
Craniopharyngioma |
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Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Central adrenal ins... |
ORPHA:54595 |
Myasthenia Gravis |
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Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abnormal thymus morphology... |
ORPHA:589 |
Xp21 Deletion Syndrome |
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Hypogonadotropic hypogonadism, Adrenal insufficiency, Primary adrenal insufficiency |
ORPHA:261476 |
Acute Adrenal Insufficiency |
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Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insufficiency, Salt cra... |
ORPHA:95409 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Hypogonadism, Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis |
ORPHA:300298 |
Dominant Beta-Thalassemia |
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Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Hypoparathyroidism, Diab... |
ORPHA:231226 |
Pseudohypoaldosteronism, Type Iib |
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Pseudohypoaldosteronism |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
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Pseudohypoaldosteronism |
OMIM:614495 |
Peroxisome Biogenesis Disorder 2B |
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Adrenal insufficiency |
OMIM:202370 |
Carney Triad |
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Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Anorexia, Paraganglioma |
ORPHA:139411 |
Pseudohypoaldosteronism, Type Iic |
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Pseudohypoaldosteronism, Decreased circulating renin level |
OMIM:614492 |
Cholesteryl Ester Storage Disease |
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Adrenal calcification, Adrenal insufficiency |
OMIM:278000 |
Mirage Syndrome |
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Adrenal insufficiency, Adrenal hypoplasia, Hypergonadotropic hypogonadism |
OMIM:617053 |
Pseudohypoaldosteronism, Type Iie |
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Pseudohypoaldosteronism |
OMIM:614496 |
Congenital Isolated Acth Deficiency |
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Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insufficiency, Adrena... |
ORPHA:199296 |
Tsh-Secreting Pituitary Adenoma |
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Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... |
ORPHA:91347 |
Familial Hypoaldosteronism |
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Decreased circulating aldosterone level, Adrenal insufficiency, Increased circulating renin level |
ORPHA:427 |
Late-Onset Isolated Acth Deficiency |
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Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotropin deficient adrena... |
ORPHA:199299 |
Immunodeficiency, Common Variable, 10 |
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Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re... |
OMIM:615577 |
Corticosterone Methyloxidase Type Ii Deficiency |
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Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... |
OMIM:610600 |
X-Linked Cerebral Adrenoleukodystrophy |
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Male hypogonadism, Primary adrenal insufficiency, Decreased circulating cortisol level, Hyperacti... |
ORPHA:139396 |
Late-Onset Familial Hypoaldosteronism |
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Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo... |
ORPHA:556037 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
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Adrenal insufficiency, Hypohidrosis, Dysphagia |
OMIM:615510 |
Beta-Thalassemia Major |
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Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Hypoparathyroidism, Diab... |
ORPHA:231214 |
Early-Onset Familial Hypoaldosteronism |
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Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo... |
ORPHA:556030 |
Adrenomyeloneuropathy |
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Adrenocorticotropic hormone excess, Adrenocortical abnormality, Adrenal insufficiency, Primary ad... |
ORPHA:139399 |
Distal Deletion 13Q |
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Primary adrenal insufficiency |
ORPHA:1590 |
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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Elevated circulating luteinizing hormone level, Adrenal calcification, Absence of secondary sex c... |
ORPHA:289548 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... |
ORPHA:90791 |
Zellweger Syndrome |
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Primary adrenal insufficiency, Polymicrogyria |
ORPHA:912 |
Poems Syndrome |
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Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insufficiency, Hypot... |
ORPHA:2905 |
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 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
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Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Apparent Mineralocorticoid Excess |
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Decreased circulating aldosterone level, Polydipsia, Abnormality of circulating cortisol level, D... |
ORPHA:320 |
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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Elevated circulating luteinizing hormone level, Absence of secondary sex characteristics, Increas... |
ORPHA:168558 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Thymoma, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II diabetes melli... |
OMIM:269200 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... |
ORPHA:91350 |
Corticosterone Methyloxidase Type I Deficiency |
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Decreased circulating aldosterone level, Increased circulating renin level |
OMIM:203400 |
Pearson Syndrome |
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Decreased response to growth hormone stimulation test, Exocrine pancreatic insufficiency, Adrenal... |
ORPHA:699 |
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 |
Tbck-Related Intellectual Disability Syndrome |
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Decreased response to growth hormone stimulation test, Hypothyroidism, Central adrenal insufficie... |
ORPHA:488632 |
Liddle Syndrome 1 |
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Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:177200 |
46,Xy Partial Gonadal Dysgenesis |
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Decreased serum estradiol, Elevated circulating luteinizing hormone level, Absence of secondary s... |
ORPHA:251510 |
Apparent Mineralocorticoid Excess |
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Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:218030 |
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 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating androstenedion... |
OMIM:202010 |
Peroxisome Biogenesis Disorder 4B |
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Adrenal insufficiency |
OMIM:614863 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Precocious puber... |
ORPHA:90794 |
D-Bifunctional Protein Deficiency |
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Primary adrenal insufficiency, Polymicrogyria |
OMIM:261515 |
Crimean-Congo Hemorrhagic Fever |
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Parotitis, Adrenal insufficiency, Orchitis, Hyperhidrosis, Anorexia, Inappropriate antidiuretic h... |
ORPHA:99827 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... |
ORPHA:293978 |
Glycerol Kinase Deficiency |
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Adrenal insufficiency, Chronic pancreatitis, Adrenocortical hypoplasia |
OMIM:307030 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Precocious puberty, Decreased response to growth hormone stimulation test, Inappropriate laughter... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Precocious puberty, Decreased response to growth hormone stimulation test, Inappropriate laughter... |
ORPHA:363958 |
Generalized Glucocorticoid Resistance Syndrome |
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Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros... |
OMIM:201750 |
Acute Liver Failure |
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Adrenal insufficiency, Agitation |
ORPHA:90062 |
Pallister-Hall Syndrome |
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Precocious puberty, Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Cen... |
ORPHA:672 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Primary adrenal insufficiency |
ORPHA:275761 |
Microphthalmia, Syndromic 2 |
|
Adrenal insufficiency, Hypothyroidism |
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, Motor stereotypy |
OMIM:618218 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Self-mutilation, Repetitive compulsive behavior, Motor stereotypy, Self-biting |
ORPHA:522077 |