Lipoid Congenital Adrenal Hyperplasia |
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Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201710 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
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Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
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Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Hyperaldosteronism, Familial, Type I |
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Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Gonadoblastoma |
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Gonadal dysgenesis with female appearance, male, Gonadal calcification, Dysgerminoma, Increased s... |
ORPHA:206484 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Adrenal hyperplasia, Decreased circulating ACTH concentration, Mental deterioration, Depression, ... |
OMIM:219080 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
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Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201910 |
46,Xx Testicular Difference Of Sex Development |
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Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
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Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
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Diabetes mellitus, Adrenal hyperplasia, Depression, Increased circulating cortisol level, Primary... |
OMIM:615830 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
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Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Hepatic Adenomas, Familial |
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Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Increased urinary cortisol level, Decreased circulating ACTH concentration, Depression, Increased... |
OMIM:615954 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Long penis, Decre... |
OMIM:202010 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Increased ... |
ORPHA:90791 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
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Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Familial Hyperaldosteronism Type Ii |
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Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Autoimmune Polyendocrinopathy Type 1 |
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Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Familial Hyperaldosteronism Type I |
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Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
Hyperaldosteronism, Familial, Type Iii |
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Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
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 |
Familial Hyperaldosteronism Type Iii |
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Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
46,Xy Complete Gonadal Dysgenesis |
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Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Tetragametic Chimerism |
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Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
46,Xx Ovotesticular Difference Of Sex Development |
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Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Fowler Urethral Sphincter Dysfunction Syndrome |
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Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... |
ORPHA:2795 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... |
ORPHA:90790 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
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Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
Primary Unilateral Adrenal Hyperplasia |
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Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hyperaldosteronism, Dexamethaso... |
ORPHA:369929 |
Generalized Glucocorticoid Resistance Syndrome |
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Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Ovarian Fibrothecoma |
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Ovarian fibroma, Abnormal circulating hormone concentration, Abnormal endometrium morphology, Gon... |
ORPHA:314478 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Maternal Uniparental Disomy Of Chromosome 6 |
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Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... |
ORPHA:96181 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Ovarian Fibroma |
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Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
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Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Sex reversal, Adrenal gland agenesis, Hypospadias, Ovotestis |
OMIM:611812 |
Satoyoshi Syndrome |
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Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Aromatase Deficiency |
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Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism |
OMIM:613546 |
Familial Adenomatous Polyposis 4 |
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Ovarian cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst |
OMIM:617100 |
Burkitt Lymphoma |
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Abnormality of the ovary |
ORPHA:543 |
Functioning Gonadotropic Adenoma |
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Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... |
ORPHA:91348 |
Müllerian Aplasia And Hyperandrogenism |
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Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Increased serum t... |
ORPHA:247768 |
Tetraamelia Syndrome 1 |
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Hypoplasia of the fallopian tube, Absent external genitalia, Urethral atresia, Adrenal gland agen... |
OMIM:273395 |
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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Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Fraser-Like Syndrome |
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Ovarian cyst |
OMIM:229230 |
Hypoplasminogenemia |
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Cervicitis, Abnormality of the ovary, Nephrolithiasis, Abnormal fallopian tube morphology |
ORPHA:722 |
Hydrolethalus Syndrome 1 |
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Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagina morphology, Hydronephrosis |
OMIM:236680 |
Doors Syndrome |
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Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Congenital hypothyroidism... |
ORPHA:79500 |
Bardet-Biedl Syndrome 1 |
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Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Hypogonadism, Vagin... |
OMIM:209900 |
Turner Syndrome |
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High urinary gonadotropin level, Ectopic kidney, Increased circulating gonadotropin level, Hyperi... |
ORPHA:881 |
Mosaic Monosomy X |
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High urinary gonadotropin level, Ectopic kidney, Increased circulating gonadotropin level, Hyperi... |
ORPHA:99228 |
Monosomy X |
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High urinary gonadotropin level, Ectopic kidney, Increased circulating gonadotropin level, Hyperi... |
ORPHA:99226 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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High urinary gonadotropin level, Ectopic kidney, Increased circulating gonadotropin level, Hyperi... |
ORPHA:99413 |