Lipoid Congenital Adrenal Hyperplasia |
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Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia |
OMIM:201710 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
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Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia |
OMIM:613571 |
Pandas |
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Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... |
ORPHA:66624 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Agitation, Decreased circulating ACTH concentration, Depression, Emotional lability, Macronodular... |
OMIM:219080 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
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Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
Hyperaldosteronism, Familial, Type I |
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Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism |
OMIM:103900 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
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Emotional lability, Depression, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism,... |
OMIM:615830 |
Gonadoblastoma |
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Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... |
ORPHA:206484 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
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Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulatin... |
OMIM:201910 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ... |
ORPHA:90793 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Decreased circulating ACTH concentration, Depression, Macronodular adrenal hyperplasia, Increased... |
OMIM:615954 |
46,Xx Testicular Difference Of Sex Development |
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Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism |
ORPHA:393 |
Familial Hyperaldosteronism Type I |
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Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating renin, Se... |
ORPHA:403 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
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Adrenal hyperplasia, Ambiguous genitalia, Adrenogenital syndrome, Male pseudohermaphroditism |
OMIM:202110 |
Hyperaldosteronism, Familial, Type Iii |
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Polydipsia, Polyuria, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hyp... |
OMIM:613677 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior |
ORPHA:208441 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
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Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr... |
OMIM:201810 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Increased circulating androstenedione concentration, Ambiguous genitalia, male, Clitoral hypertro... |
ORPHA:90791 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Increased circulating androstenedione concentration, Precocious puberty in males, Clitoral hypert... |
OMIM:202010 |
Autoimmune Polyendocrinopathy Type 1 |
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Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... |
ORPHA:3453 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Decreased circulating ACTH concentration, Memory impairment, Depression, Emotional lability, Macr... |
ORPHA:189427 |
Familial Hyperaldosteronism Type Iii |
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Polydipsia, Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hypera... |
ORPHA:251274 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... |
ORPHA:3077 |
Familial Hyperaldosteronism Type Ii |
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Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... |
ORPHA:404 |
Hepatic Adenomas, Familial |
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Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
Primary Unilateral Adrenal Hyperplasia |
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Polydipsia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteron... |
ORPHA:231580 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
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Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Agitation, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical diseas... |
OMIM:610475 |
Tetragametic Chimerism |
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Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... |
ORPHA:199310 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Polydipsia, Abnormal circulating renin, Nephrolithiasis, Adrenal hyperplasia, Hyperaldosteronism |
ORPHA:369929 |
46,Xx Ovotesticular Difference Of Sex Development |
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Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... |
ORPHA:90790 |
46,Xy Complete Gonadal Dysgenesis |
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Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis |
ORPHA:242 |
Fowler Urethral Sphincter Dysfunction Syndrome |
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Urinary incontinence, Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary retention, A... |
ORPHA:2795 |
Maternal Uniparental Disomy Of Chromosome 6 |
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Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Hydroce... |
ORPHA:96181 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... |
ORPHA:95699 |
Generalized Glucocorticoid Resistance Syndrome |
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Abnormal circulating testosterone concentration, Ambiguous genitalia, Oligozoospermia, Adrenal hy... |
ORPHA:786 |
Ovarian Fibrothecoma |
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Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... |
ORPHA:314478 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ... |
ORPHA:90301 |
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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Delayed puberty, Azoospermia, Testicular microlithiasis, Decreased circulating luteinizing hormon... |
OMIM:228300 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... |
OMIM:277000 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Ovotestis, Sex reversal, Hypospadias, Adrenal gland agenesis |
OMIM:611812 |
Satoyoshi Syndrome |
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Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... |
ORPHA:3130 |
Porphyria Due To Ala Dehydratase Deficiency |
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Agitation, Abnormal fear-induced behavior, Increased urinary porphobilinogen, Purple urine, Depre... |
ORPHA:100924 |
Cushing Disease |
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Dementia, Memory impairment, Depression, Emotional lability, Adrenal hyperplasia, Pituitary corti... |
ORPHA:96253 |
Functioning Gonadotropic Adenoma |
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Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... |
ORPHA:91348 |
Burkitt Lymphoma |
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Abnormality of the ovary |
ORPHA:543 |
Müllerian Aplasia And Hyperandrogenism |
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Hypoplasia of the uterus, Increased serum testosterone level, Abnormality of the ovary, Abnormal ... |
ORPHA:247768 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullary thyroid carcinoma, In... |
ORPHA:99889 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of the uterus, Ectopic ovary, H... |
ORPHA:3109 |
Tetraamelia Syndrome 1 |
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Absent external genitalia, Hypoplasia of the fallopian tube, Vaginal atresia, Urethral atresia, A... |
OMIM:273395 |
Gm2 Gangliosidosis, Ab Variant |
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Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment |
ORPHA:309246 |
Aromatase Deficiency |
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Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
Familial Adenomatous Polyposis 4 |
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Uterine leiomyoma, Ovarian cyst, Thyroid adenoma, Renal cyst |
OMIM:617100 |
Hydrolethalus Syndrome 1 |
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Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Bifid uterus, Hydronephrosis |
OMIM:236680 |
Hypoplasminogenemia |
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Cervicitis, Abnormal fallopian tube morphology, Nephrolithiasis, Abnormality of the ovary |
ORPHA:722 |
Pituitary Adenoma 4, Acth-Secreting |
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Abnormal fear-induced behavior, Emotional lability, Nephrolithiasis, Pituitary adenoma, Increased... |
OMIM:219090 |
Fraser-Like Syndrome |
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Ovarian cyst |
OMIM:229230 |
Bardet-Biedl Syndrome 1 |
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Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased testicular size, Hypogonadism... |
OMIM:209900 |
Doors Syndrome |
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Congenital hypothyroidism, Adrenal hyperplasia, Hydronephrosis, Nephrocalcinosis, Increased urine... |
ORPHA:79500 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Abnormal fear-induced behavior, Hypospadias, Emotional lability, Hyperactivity, Vesicoureteral re... |
ORPHA:353281 |
Turner Syndrome |
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Delayed puberty, Hyperinsulinemia, Ectopic kidney, High urinary gonadotropin level, Depression, T... |
ORPHA:881 |
Mosaic Monosomy X |
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Delayed puberty, Hyperinsulinemia, Ectopic kidney, High urinary gonadotropin level, Depression, T... |
ORPHA:99228 |
Monosomy X |
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Delayed puberty, Hyperinsulinemia, Ectopic kidney, High urinary gonadotropin level, Depression, T... |
ORPHA:99226 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Delayed puberty, Hyperinsulinemia, Ectopic kidney, High urinary gonadotropin level, Depression, T... |
ORPHA:99413 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Aggressive behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Hyperactivi... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Aggressive behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Hyperactivi... |
ORPHA:353277 |