Lipoid Congenital Adrenal Hyperplasia |
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Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias |
OMIM:201710 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
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Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia |
OMIM:613571 |
Pandas |
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Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Mental deterioration, Depression, Increased circulating cortisol level, Decreased circulating ACT... |
OMIM:219080 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
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Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
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Depression, Increased circulating cortisol level, Primary hypercortisolism, Emotional lability, A... |
OMIM:615830 |
Hyperaldosteronism, Familial, Type I |
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Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:103900 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
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Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Adr... |
OMIM:201910 |
Gonadoblastoma |
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Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... |
ORPHA:206484 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Depression, Increased circulating cortisol level, Increased urinary cortisol level, Decreased cir... |
OMIM:615954 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... |
ORPHA:90793 |
46,Xx Testicular Difference Of Sex Development |
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Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Familial Hyperaldosteronism Type I |
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Polydipsia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteroni... |
ORPHA:403 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
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Male pseudohermaphroditism, Ambiguous genitalia, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Hyperaldosteronism, Familial, Type Iii |
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Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalc... |
OMIM:613677 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
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Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... |
OMIM:201810 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... |
ORPHA:90791 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
Autoimmune Polyendocrinopathy Type 1 |
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Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... |
ORPHA:3453 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Depression, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Mem... |
ORPHA:189427 |
Familial Hyperaldosteronism Type Iii |
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Polydipsia, Adrenal hyperplasia, Abnormal circulating renin, Hypercalciuria, Glucocortocoid-insen... |
ORPHA:251274 |
Familial Hyperaldosteronism Type Ii |
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Secretory adrenocortical adenoma, Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid... |
ORPHA:404 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Macro... |
ORPHA:3077 |
Hepatic Adenomas, Familial |
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Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Primary Unilateral Adrenal Hyperplasia |
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Polydipsia, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, ... |
ORPHA:231580 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
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Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Mental deterioration, Depression, Increased circulating cortisol level, Pigmented micronodular ad... |
OMIM:610475 |
Tetragametic Chimerism |
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Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... |
ORPHA:199310 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Nephrolithiasis, Abnormal circulating renin |
ORPHA:369929 |
46,Xx Ovotesticular Difference Of Sex Development |
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Small scrotum, Abnormal male internal genitalia morphology, Abnormal morphology of female interna... |
ORPHA:2138 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, Increased ci... |
ORPHA:90790 |
46,Xy Complete Gonadal Dysgenesis |
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Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Fowler Urethral Sphincter Dysfunction Syndrome |
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Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Urin... |
ORPHA:2795 |
Maternal Uniparental Disomy Of Chromosome 6 |
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Congenital adrenal hyperplasia, Clitoral hypertrophy, Hydrocele testis, Increased serum testoster... |
ORPHA:96181 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, Cr... |
ORPHA:95699 |
Generalized Glucocorticoid Resistance Syndrome |
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Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
Ovarian Fibrothecoma |
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Abnormality of the ovary, Gonadal calcification, Abnormal endometrium morphology, Ovarian fibroma... |
ORPHA:314478 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci... |
ORPHA:90301 |
Ovarian Fibroma |
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Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
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Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... |
OMIM:277000 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Ovotestis, Hypospadias, Adrenal gland agenesis, Sex reversal |
OMIM:611812 |
Satoyoshi Syndrome |
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Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Nephrogenic diabete... |
ORPHA:3130 |
Porphyria Due To Ala Dehydratase Deficiency |
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Depression, Abnormal fear-induced behavior, Purple urine, Confusion, Increased urinary porphobili... |
ORPHA:100924 |
Cushing Disease |
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Depression, Memory impairment, Increased circulating cortisol level, Increased urinary cortisol l... |
ORPHA:96253 |
Functioning Gonadotropic Adenoma |
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Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... |
ORPHA:91348 |
Burkitt Lymphoma |
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Abnormality of the ovary |
ORPHA:543 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Increased circulating cortisol level, Increased urinary cortisol level, Emotional lability, Adren... |
ORPHA:99889 |
Müllerian Aplasia And Hyperandrogenism |
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Abnormality of the ovary, Increased serum testosterone level, Hypoplasia of the uterus, Abnormal ... |
ORPHA:247768 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... |
ORPHA:3109 |
Tetraamelia Syndrome 1 |
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Absent external genitalia, Adrenal gland agenesis, Urethral atresia, Vaginal atresia, Hypoplasia ... |
OMIM:273395 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Aromatase Deficiency |
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Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst |
OMIM:613546 |
Familial Adenomatous Polyposis 4 |
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Renal cyst, Thyroid adenoma, Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
Hydrolethalus Syndrome 1 |
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Abnormal vagina morphology, Hydronephrosis, Adrenal gland dysgenesis, Bifid uterus, Hypospadias |
OMIM:236680 |
Hypoplasminogenemia |
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Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis, Nephrolithiasis |
ORPHA:722 |
Pituitary Adenoma 4, Acth-Secreting |
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Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Emotional la... |
OMIM:219090 |
Fraser-Like Syndrome |
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Ovarian cyst |
OMIM:229230 |
Bardet-Biedl Syndrome 1 |
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Hypogonadism, Decreased testicular size, Abnormality of the ovary, Nephrogenic diabetes insipidus... |
OMIM:209900 |
Doors Syndrome |
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Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Congenital hypothyroidism, A... |
ORPHA:79500 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Self-injurious behavior, Hypospadias, Abnormal fear-induced behavior, Vesicoureteral reflux, Emot... |
ORPHA:353281 |
Turner Syndrome |
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Depression, Horseshoe kidney, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellit... |
ORPHA:881 |
Mosaic Monosomy X |
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Depression, Horseshoe kidney, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellit... |
ORPHA:99228 |
Monosomy X |
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Depression, Horseshoe kidney, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellit... |
ORPHA:99226 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Depression, Horseshoe kidney, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellit... |
ORPHA:99413 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Self-injurious behavior, Hypospadias, Abnormal fear-induced behavior, Vesicoureteral reflux, Emot... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Self-injurious behavior, Hypospadias, Abnormal fear-induced behavior, Vesicoureteral reflux, Emot... |
ORPHA:353277 |