Plasminogen Activator Inhibitor-1 Deficiency |
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Menorrhagia |
OMIM:613329 |
Endometriosis, Susceptibility To, 1 |
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Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Premature Ovarian Failure 19 |
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Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Asherman Syndrome |
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Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Invasive Mole |
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Menometrorrhagia |
ORPHA:99925 |
Premature Ovarian Failure 1 |
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Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
Premature Ovarian Failure 15 |
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Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
Hyperprolactinemia |
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Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Premature Ovarian Failure 2B |
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Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Placental Site Trophoblastic Tumor |
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Metrorrhagia, Amenorrhea |
ORPHA:99928 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
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Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
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Female infertility, Amenorrhea |
OMIM:620383 |
Prolactin Deficiency, Isolated |
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Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Premature Ovarian Failure 11 |
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Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea |
OMIM:616946 |
Familial Hyperprolactinemia |
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Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Premature Ovarian Failure 16 |
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Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... |
OMIM:618723 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Gestational Choriocarcinoma |
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Metrorrhagia |
ORPHA:99926 |
Premature Ovarian Failure 12 |
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Primary amenorrhea |
OMIM:616947 |
Premature Ovarian Failure 2A |
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Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:300511 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
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Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
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Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
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Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
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Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
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Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
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Female infertility |
OMIM:617712 |
Progesterone Resistance |
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Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
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Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
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Female infertility |
OMIM:620333 |
Gordon Holmes Syndrome |
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Hypogonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Absence of pubertal deve... |
OMIM:212840 |
Premature Ovarian Failure 14 |
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Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... |
OMIM:618014 |
Premature Ovarian Failure 17 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
Premature Ovarian Failure 5 |
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Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Premature Ovarian Failure 13 |
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Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Oligomen... |
OMIM:617442 |
Ovarian Dysgenesis 4 |
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Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
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Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301033 |
Premature Ovarian Failure 18 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Ovarian Dysgenesis 1 |
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Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
Premature Ovarian Failure 20 |
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Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
Perrault Syndrome 6 |
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Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Ovarian Dysgenesis 10 |
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Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Premature Ovarian Failure 9 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Premature Ovarian Failure 21 |
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Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... |
OMIM:620311 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
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Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Ovarian Dysgenesis 6 |
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Primary amenorrhea, Hypergonadotropic hypogonadism, Absence of pubertal development |
OMIM:618078 |
Ovarian Dysgenesis 9 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Ovarian Dysgenesis 7 |
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Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased serum estradiol, El... |
OMIM:618117 |
Premature Ovarian Failure 3 |
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Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Ovarian Dysgenesis 2 |
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Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Premature Ovarian Failure 6 |
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Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Cortisone Reductase Deficiency 1 |
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Precocious puberty, Infertility, Oligomenorrhea |
OMIM:604931 |
Premature Ovarian Failure 8 |
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Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Perrault Syndrome 2 |
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Streak ovary, Amenorrhea |
OMIM:614926 |
Pituicytoma |
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Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
Premature Ovarian Failure 10 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
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Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Polycystic Ovary Syndrome 1 |
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Oligomenorrhea, Amenorrhea |
OMIM:184700 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
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Premature ovarian insufficiency, Secondary amenorrhea, Goiter |
OMIM:617175 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
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Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... |
OMIM:616030 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
Ovarian Dysgenesis 5 |
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Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... |
OMIM:617690 |
Glucocorticoid Resistance, Generalized |
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Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Hypop... |
OMIM:618841 |
Isolated Follicle Stimulating Hormone Deficiency |
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Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Ovarian Dysgenesis 8 |
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Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased serum estradiol, El... |
OMIM:618187 |
Premature Ovarian Failure 7 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Ovarian Dysgenesis 3 |
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Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Plin1-Related Familial Partial Lipodystrophy |
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Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus... |
ORPHA:280356 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... |
OMIM:228300 |
46,Xy Sex Reversal 11 |
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Elevated circulating luteinizing hormone level, Absence of pubertal development, Primary amenorrh... |
OMIM:273250 |
Gray Platelet Syndrome |
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Abnormality of the menstrual cycle |
ORPHA:721 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
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Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... |
OMIM:614897 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Decreased circulating gonadotr... |
OMIM:614841 |
Post-Traumatic Pituitary Deficiency |
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Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Pituitary Adenoma 1, Multiple Types |
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Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
Peritoneal Cystic Mesothelioma |
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Menorrhagia, Dyspareunia, Metrorrhagia |
ORPHA:168816 |
Lipodystrophy, Familial Partial, Type 5 |
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Diabetic ketoacidosis, Irregular menstruation, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
Hydatidiform Mole |
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Menometrorrhagia, Hyperthyroidism |
ORPHA:99927 |
Proprotein Convertase 1/3 Deficiency |
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Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Primary ame... |
OMIM:600955 |
Perrault Syndrome 4 |
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Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
Functioning Gonadotropic Adenoma |
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Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... |
ORPHA:91348 |
Akt2-Related Familial Partial Lipodystrophy |
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Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Oligome... |
ORPHA:79085 |
46,Xy Sex Reversal 1 |
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Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Abnormality of th... |
OMIM:400044 |
Non-Functioning Pituitary Adenoma |
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Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Prolactinoma |
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Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
Aromatase Deficiency |
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Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Amenorrhea |
OMIM:277000 |
Fowler Urethral Sphincter Dysfunction Syndrome |
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Menorrhagia, Oligomenorrhea, Amenorrhea |
ORPHA:2795 |
Generalized Glucocorticoid Resistance Syndrome |
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Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Tsh-Secreting Pituitary Adenoma |
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Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Interstitial Cystitis |
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Dyspareunia, Abnormality of the menstrual cycle |
ORPHA:37202 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Decreased circulating cortisol level, Abnormal ovarian physiology, Premature adrenarche, Hypogona... |
ORPHA:90794 |