Endometriosis, Susceptibility To, 1 |
|
Dysmenorrhea, Decreased fertility, Endometriosis |
OMIM:131200 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle |
OMIM:619011 |
Asherman Syndrome |
|
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea |
ORPHA:397685 |
Plasminogen Activator Inhibitor-1 Deficiency |
|
Menorrhagia |
OMIM:613329 |
Hyperprolactinemia |
|
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia |
OMIM:615555 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogona... |
OMIM:614840 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility, Abnormality of the menstrual cycle |
OMIM:619009 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism |
OMIM:607080 |
Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
Premature Ovarian Failure 5 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... |
OMIM:611548 |
Perrault Syndrome 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... |
OMIM:617565 |
Polycystic Ovary Syndrome 1 |
|
Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries |
OMIM:184700 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Ovarian Dysgenesis 2 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... |
OMIM:300510 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Primary amenorrhea |
OMIM:300604 |
Placental Site Trophoblastic Tumor |
|
Metrorrhagia, Amenorrhea |
ORPHA:99928 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... |
OMIM:617442 |
46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism |
ORPHA:393 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... |
OMIM:146110 |
Gestational Choriocarcinoma |
|
Metrorrhagia |
ORPHA:99926 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Ovarian Dysgenesis 6 |
|
Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Gordon Holmes Syndrome |
|
Secondary amenorrhea, Oligomenorrhea, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:212840 |
Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation, Reduced circulating prolactin concentration |
OMIM:264110 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Dysmenorrhea, Abnormal uterin... |
ORPHA:3411 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
Xp22.3 Microdeletion Syndrome |
|
Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism |
ORPHA:1643 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... |
OMIM:612310 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Elevated circulat... |
OMIM:619203 |
Premature Ovarian Failure 15 |
|
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Ir... |
OMIM:618096 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... |
OMIM:615724 |
Premature Ovarian Failure 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ... |
OMIM:612964 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Oligomenorrhea, Infertility |
OMIM:604931 |
Premature Ovarian Failure 22 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:620548 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614858 |
Premature Ovarian Failure 12 |
|
Primary amenorrhea |
OMIM:616947 |
Premature Ovarian Failure 11 |
|
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Ambiguous genitalia, male, Hypoplasia of penis, Bifid scrotum, Urogenital sinus anomaly, Cryptorc... |
ORPHA:753 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... |
OMIM:615723 |
Ovarian Dysgenesis 10 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... |
OMIM:619834 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries |
ORPHA:2795 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
46,Xy Sex Reversal 1 |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Abnormal male external genital... |
OMIM:400044 |
Premature Ovarian Failure 21 |
|
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:620311 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... |
OMIM:612885 |
Leukoencephalopathy With Vanishing White Matter 3 |
|
Secondary amenorrhea |
OMIM:620313 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... |
OMIM:619665 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:618117 |
Ovarian Dysgenesis 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:614324 |
46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis |
ORPHA:242 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:620312 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea |
OMIM:264270 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:300511 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Elevated circulatin... |
OMIM:273250 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Secondary amenorrhea, Goiter, Premature ovarian insufficiency |
OMIM:617175 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Azoospermia, Infertility, Decreased testicular size, Elevated circulating luteinizing hormone lev... |
OMIM:229070 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:617690 |
Leptin Deficiency Or Dysfunction |
|
Decreased testicular size, Micropenis, Hypogonadism, Primary amenorrhea |
OMIM:614962 |
Plin1-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Polycystic ovaries, Infertility |
ORPHA:280356 |
Hydatidiform Mole |
|
Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification... |
ORPHA:314478 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... |
OMIM:619938 |
Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... |
OMIM:614129 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Secondary growth hormone deficiency, Primary amenorrhea, Increase... |
ORPHA:2410 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delayed menarche, Fema... |
ORPHA:52901 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... |
ORPHA:168563 |
Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:721 |
Ovarian Dysgenesis 4 |
|
Elevated circulating follicle stimulating hormone level, Primary amenorrhea |
OMIM:616185 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Amenorrhea, Premature ovarian insufficiency |
OMIM:619425 |
Androgen Insensitivity Syndrome |
|
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, El... |
OMIM:300068 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... |
OMIM:615300 |
Frasier Syndrome |
|
Ovarian gonadoblastoma, Gonadal dysgenesis, Primary amenorrhea, Male pseudohermaphroditism |
OMIM:136680 |
Kennedy Disease |
|
Decreased fertility, Erectile dysfunction, Testicular atrophy |
ORPHA:481 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Cryptorchidism, Micropenis, Primary amenorrhea |
OMIM:618841 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Abnormal spermatogenesis, Abnormali... |
OMIM:228300 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Primary amenorrhea, Cryptorchidis... |
OMIM:614841 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... |
ORPHA:91348 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... |
OMIM:233420 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... |
ORPHA:1916 |
Leydig Cell Hypoplasia |
|
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Seconda... |
ORPHA:755 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis |
OMIM:614880 |
Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the uterus, Amenorrhea, Hypopla... |
ORPHA:3130 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:602390 |
Pituicytoma |
|
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Abnormal pituita... |
ORPHA:251623 |
Premature Ovarian Failure 14 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:618014 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hypog... |
OMIM:610628 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Primary amenorrhea, Cryptorchid... |
OMIM:614837 |
46,Xx Gonadal Dysgenesis |
|
Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplasia/hypoplasia of ... |
ORPHA:243 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism |
OMIM:612702 |
Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Infertility, Pan... |
ORPHA:95619 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
Vaginal Atresia |
|
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... |
ORPHA:65681 |
Ovarian Dysgenesis 8 |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:618187 |
Peritoneal Cystic Mesothelioma |
|
Metrorrhagia, Menorrhagia, Dyspareunia |
ORPHA:168816 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Ambiguous genitalia, Primary amenorrhea, Male pseudohermaphroditism |
OMIM:202110 |
Müllerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology |
ORPHA:247768 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis |
OMIM:616030 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... |
ORPHA:206484 |
Akt2-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Polycystic ovaries |
ORPHA:79085 |
Partial Androgen Insensitivity Syndrome |
|
Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Azoospermia, Aplasia of the ut... |
ORPHA:90797 |
Frasier Syndrome |
|
Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary am... |
ORPHA:347 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Impotence, Adren... |
ORPHA:91354 |
Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Tes... |
ORPHA:99429 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the vagina, Abnormal external genitalia, Aplasia of the uterus, Primary amenorrhea, Ap... |
OMIM:158330 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... |
OMIM:277000 |
Hemochromatosis, Type 3 |
|
Amenorrhea, Hypogonadotropic hypogonadism, Impotence |
OMIM:604250 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Primary amenorrhea, Ambiguous genitalia, female, Fused labia minora |
ORPHA:2975 |
Pituitary Adenoma 1, Multiple Types |
|
Pituitary growth hormone cell adenoma, Pituitary prolactin cell adenoma, Pituitary adenoma, Eleva... |
OMIM:102200 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Decreased testicular size, Hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis |
OMIM:614897 |
Familial Afibrinogenemia |
|
Menometrorrhagia |
ORPHA:98880 |
Estrogen Resistance |
|
Polycystic ovaries, Hypoplasia of the uterus, Primary amenorrhea, Breast aplasia |
OMIM:615363 |
Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:244200 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614839 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Breast hypoplasia, Reduced circulating prolactin concentration, Anterior hypopituitarism, Hypopla... |
ORPHA:2235 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Endometriosis, Aplasia of the uterus, Ectopic ovary, Dyspareunia, Hypoplasia of the vagina, Prima... |
ORPHA:3109 |
Cidec-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Polycystic ovaries |
ORPHA:435651 |
46,Xy Partial Gonadal Dysgenesis |
|
Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A... |
ORPHA:251510 |
Glanzmann Thrombasthenia |
|
Menorrhagia, Menometrorrhagia |
ORPHA:849 |
Congenital Factor Vii Deficiency |
|
Menorrhagia, Ovarian cyst |
ORPHA:327 |
Lipodystrophy, Familial Partial, Type 3 |
|
Oligomenorrhea, Polycystic ovaries, Primary amenorrhea |
OMIM:604367 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Breast hypoplasia, Increased female libido, Hypoplasia of the uterus, Male hypogonadism, Azoosper... |
ORPHA:432 |
Classic Galactosemia |
|
Premature ovarian insufficiency, Male infertility, Secondary amenorrhea, Oligomenorrhea, Primary ... |
ORPHA:79239 |
Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia, Primary amenorrhea |
OMIM:191830 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... |
ORPHA:90793 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Supernumerary nipple, Irregular menstruation |
ORPHA:1809 |
Interstitial Cystitis |
|
Abnormal labia morphology, Dyspareunia, Abnormality of the menstrual cycle, Abnormal vagina morph... |
ORPHA:37202 |
Prolactinoma |
|
Erectile dysfunction, Anterior hypopituitarism, Decreased female libido, Pituitary hypothyroidism... |
ORPHA:2965 |
Non-Functioning Pituitary Adenoma |
|
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Decreased female libido, Decr... |
ORPHA:91349 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Decrease... |
ORPHA:90796 |
Lipe-Related Familial Partial Lipodystrophy |
|
Abnormal labia majora morphology, Polycystic ovaries, Oligomenorrhea |
ORPHA:435660 |
Lipodystrophy, Familial Partial, Type 4 |
|
Oligomenorrhea |
OMIM:613877 |
Proprotein Convertase 1/3 Deficiency |
|
Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:600955 |
Glucocorticoid Resistance, Generalized |
|
Infertility, Irregular menstruation |
OMIM:615962 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Amenorrhea, Anterior hypopituitarism, Oligozoospermia, Panhypopituitari... |
ORPHA:91351 |
Polyembryoma |
|
Isosexual precocious puberty, Macroorchidism, Irregular menstruation |
ORPHA:180229 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... |
OMIM:110100 |
Luscan-Lumish Syndrome |
|
Polycystic ovaries, Irregular menstruation |
OMIM:616831 |
Congenital Generalized Lipodystrophy |
|
Clitoral hypertrophy, Precocious puberty in females, Oligomenorrhea, Amenorrhea, Overgrowth of ex... |
ORPHA:528 |
Tetragametic Chimerism |
|
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... |
ORPHA:199310 |
Pparg-Related Familial Partial Lipodystrophy |
|
Secondary amenorrhea, Oligomenorrhea, Dysmenorrhea, Primary amenorrhea, Polycystic ovaries |
ORPHA:79083 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... |
ORPHA:91 |
Hemochromatosis, Type 1 |
|
Azoospermia, Impotence, Amenorrhea, Hypogonadotropic hypogonadism, Testicular atrophy |
OMIM:235200 |
Pituitary Gigantism |
|
Premature pubarche, Pituitary growth hormone cell adenoma, Pituitary prolactin cell adenoma, Elev... |
ORPHA:99725 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Premature pubarche, Isosexual precocious puberty, Irregular menstruation, L... |
ORPHA:90795 |
Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Gangliocytoma |
|
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level... |
ORPHA:251937 |
Lipodystrophy, Familial Partial, Type 5 |
|
Irregular menstruation |
OMIM:615238 |
Wolfram Syndrome 2 |
|
Oligomenorrhea, Primary amenorrhea |
OMIM:604928 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary ameno... |
OMIM:146255 |
Hemophilia B |
|
Menometrorrhagia |
ORPHA:98879 |
Lead Poisoning |
|
Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abnormality of the m... |
ORPHA:330015 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Secondary amenorrhe... |
ORPHA:572333 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Oligozoospermia, Adrenal hyperplasia, Precocious puberty, Female pseudohermaphroditi... |
ORPHA:786 |
Adenohypophysitis |
|
Reduced circulating prolactin concentration, Decreased male libido, Pituitary hypothyroidism, Abn... |
ORPHA:95512 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Hermansky-Pudlak Syndrome 5 |
|
Metrorrhagia, Menorrhagia |
OMIM:614074 |
Klippel-Trénaunay Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:90308 |
Panhypophysitis |
|
Reduced circulating prolactin concentration, Decreased male libido, Pituitary hypothyroidism, Abn... |
ORPHA:95513 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Premature pubarche, Abnormal ovarian physiology, Precocious puberty in fema... |
ORPHA:90794 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Increased circulating gonadotropin level, Erectile dysfunction, Decreas... |
ORPHA:91347 |
Non-Acquired Panhypopituitarism |
|
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Anterior pituita... |
ORPHA:90695 |
Malakoplakia |
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Prostate neoplasm, Orchitis, Abnormality of the menstrual cycle |
ORPHA:556 |
Wilson Disease |
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Abnormality of the menstrual cycle |
ORPHA:905 |
Bardet-Biedl Syndrome 1 |
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Abnormality of the ovary, Decreased testicular size, Vaginal atresia, Hypogonadism, Micropenis |
OMIM:209900 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Decreased fertility, Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian... |
ORPHA:95699 |
Complex Regional Pain Syndrome |
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Allodynia |
ORPHA:83452 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Decreased response to growth hormone stimulation test, Anterior pituitary agenesis, Pituitary hyp... |
ORPHA:95494 |
Trigeminal Neuralgia |
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Allodynia |
ORPHA:221091 |
Pudendal Neuralgia |
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Allodynia |
ORPHA:60039 |
Anterior Cutaneous Nerve Entrapment Syndrome |
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Allodynia |
ORPHA:51890 |
Neurotrophic Keratopathy |
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Allodynia |
ORPHA:137596 |
Spinal Cord Injury |
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Allodynia |
ORPHA:90058 |
Wiskott-Aldrich Syndrome |
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Hypoplasia of the thymus, Abnormality of the menstrual cycle |
ORPHA:906 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Premature ovarian insufficiency, Secondary amenorrhea, Abnormality of the ovary, Female infertili... |
ORPHA:99413 |
Turner Syndrome |
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Premature ovarian insufficiency, Secondary amenorrhea, Abnormality of the ovary, Female infertili... |
ORPHA:881 |
Mosaic Monosomy X |
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Premature ovarian insufficiency, Secondary amenorrhea, Abnormality of the ovary, Female infertili... |
ORPHA:99228 |
Monosomy X |
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Premature ovarian insufficiency, Secondary amenorrhea, Abnormality of the ovary, Female infertili... |
ORPHA:99226 |
African Trypanosomiasis |
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Infertility, Abnormal prolactin level, Impotence, Abnormality of the menstrual cycle |
ORPHA:3385 |