Spermatogenic Failure, X-Linked, 1 |
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Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
Maturity-Onset Diabetes Of The Young, Type 11 |
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Overweight, Obesity |
OMIM:613375 |
Bardet-Biedl Syndrome 11 |
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Hypogonadism, Obesity |
OMIM:615988 |
Obesity |
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Increased waist to hip ratio, Obesity |
OMIM:601665 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:256450 |
Triglyceride Storage Disease, Type Ii |
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Obesity |
OMIM:190430 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:601820 |
Perineural Cyst |
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Dyspareunia, Retrograde ejaculation, Male sexual dysfunction, Impotence, Infertility, Female sexu... |
ORPHA:65250 |
Hypothyroidism, Central, With Testicular Enlargement |
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Overweight, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Hypothyroidi... |
OMIM:300888 |
Orthostatic Hypotension 1 |
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Retrograde ejaculation, Reduced circulating prolactin concentration |
OMIM:223360 |
Bardet-Biedl Syndrome 10 |
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Hypogonadism, Obesity |
OMIM:615987 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Igg4-Related Retroperitoneal Fibrosis |
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Elevated circulating creatinine concentration, Weight loss, Hydrocele testis, Retrograde ejaculat... |
ORPHA:49041 |
Obesity Due To Prohormone Convertase I Deficiency |
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Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Pituitar... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Pituitar... |
ORPHA:71526 |
Dopamine Beta-Hydroxylase Deficiency |
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Retrograde ejaculation, Elevated circulating creatinine concentration |
ORPHA:230 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
Polycystic Ovary Syndrome 1 |
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Obesity, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
Cortisone Reductase Deficiency 1 |
|
Obesity, Infertility, Oligomenorrhea |
OMIM:604931 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
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Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... |
OMIM:614450 |
Summitt Syndrome |
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Obesity |
OMIM:272350 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Leptin Deficiency Or Dysfunction |
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Hypogonadism, Decreased testicular size, Primary amenorrhea, Obesity |
OMIM:614962 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Obesity, Impaired social interactions |
ORPHA:329249 |
Morbid Obesity And Spermatogenic Failure |
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Azoospermia, Obesity, Infertility, Oligozoospermia |
OMIM:615703 |
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 |
Biemond Syndrome Type 2 |
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Hypogonadism, Hypogonadotropic hypogonadism, Obesity |
ORPHA:141333 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
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Abnormal testis morphology, Hypogonadism, Decreased fertility, Obesity |
ORPHA:2233 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
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Increased circulating free T4 concentration, Small for gestational age, Increased body weight, In... |
OMIM:274300 |
Leptin Receptor Deficiency |
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Obesity, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, P... |
OMIM:614963 |
Body Mass Index Quantitative Trait Locus 20 |
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Obesity, Tall stature |
OMIM:618406 |
Perrault Syndrome 4 |
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Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Primary ameno... |
OMIM:615300 |
Obesity And Hypopigmentation |
|
Overgrowth, Obesity |
OMIM:620195 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity |
OMIM:615985 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Pancreatic islet-cell hyperplasia, Increased body weight, Hyperhidrosis |
ORPHA:276608 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Decreased testicular ... |
OMIM:610628 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
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Hypogonadotropic hypogonadism, Reduced circulating prolactin concentration, Decreased fertility, ... |
ORPHA:2235 |
Ring Chromosome Y Syndrome |
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Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... |
ORPHA:261529 |
Proprotein Convertase 1/3 Deficiency |
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Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea |
OMIM:600955 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
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Eunuchoid habitus, Decreased fertility, Obesity, Hypogonadism, Decreased testicular size |
ORPHA:2234 |
Bdv Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Central hypothyroidis... |
OMIM:619326 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Cryptorchidism, Increased body weight |
ORPHA:589905 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
OMIM:601794 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
ORPHA:363741 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Pituitary hypothyroidism, Decreased circ... |
ORPHA:99832 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesity, Primary amenorrhea, Hypoplasia... |
ORPHA:66628 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... |
ORPHA:79644 |
Adrenocortical Carcinoma |
|
Adrenocorticotropic hormone deficiency, Abnormality of reproductive system physiology, Increased ... |
ORPHA:1501 |
Sheehan Syndrome |
|
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... |
ORPHA:91355 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesity, Primary amenorrhea, Hypoplasia... |
ORPHA:179494 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased body weight, Abdominal obesity |
OMIM:615954 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Increased body weight |
ORPHA:94086 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Primary hyperparathyroidism, Increased body weight, Hy... |
ORPHA:97279 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Increased body weight, Hyperhidrosis |
ORPHA:263455 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Increased circulating cortisol level, Increased body weight |
OMIM:615830 |
Wilson Disease |
|
Weight loss, Failure to thrive, Increased body weight, Abnormality of the menstrual cycle |
ORPHA:905 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Primary hyperparathyroidism, Irregular menstruation, Increased body weight, Increased circulating... |
ORPHA:189427 |
Smith-Magenis Syndrome |
|
Increased body weight |
OMIM:182290 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Cryptorchidism, Xerostomia, Increased body weight, Primary amenorrhea, Central hypothyroidism, Ab... |
ORPHA:398069 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Sotos Syndrome |
|
Cryptorchidism, Overgrowth, Increased body weight, Tall stature |
OMIM:117550 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Irregular menstruation, Increased body weight, Oligomenorrhea, Failure to thrive |
ORPHA:264580 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Increased body weight, Irregular menstruation, Dysmenorrhea, Oligomenorrhea |
ORPHA:79240 |
Cushing Disease |
|
Increased body weight, Secondary amenorrhea, Truncal obesity, Increased circulating cortisol leve... |
ORPHA:96253 |
Monosomy 22Q13.3 |
|
Hair-pulling, Obesity, Hypohidrosis |
ORPHA:48652 |
Carney Complex |
|
Tall stature, Sertoli cell neoplasm, Testicular neoplasm, Elevated circulating growth hormone con... |
ORPHA:1359 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss |
ORPHA:2298 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Hair-pulling |
OMIM:616393 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling |
ORPHA:447997 |
Choreoacanthocytosis |
|
Hair-pulling, Socially inappropriate behavior, Weight loss |
ORPHA:2388 |
Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased body weight, Secondary amenorrhea, Weight loss, Truncal obesity, Increased circulating ... |
ORPHA:99889 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hair-pulling |
OMIM:620330 |