Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
Adenomyosis |
|
Adenomyosis, Dysmenorrhea |
OMIM:600458 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
Familial Hyperprolactinemia |
|
Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Hemorrhagic ovarian cyst, Female hypogonadism |
ORPHA:397685 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Infertility, Oligomenorrhea, Menorrhagia |
OMIM:615555 |
Plasminogen Activator Inhibitor-1 Deficiency |
|
Menorrhagia |
OMIM:613329 |
Gordon Holmes Syndrome |
|
Infertility, Oligomenorrhea, Hypogonadotropic hypogonadism |
OMIM:212840 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular size, Cryptor... |
OMIM:614840 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... |
OMIM:146110 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis |
OMIM:607080 |
Amenorrhea-Galactorrhea Syndrome |
|
Pituitary adenoma, Secondary amenorrhea |
OMIM:104600 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:618117 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Premature Ovarian Failure 15 |
|
Oligomenorrhea |
OMIM:618096 |
Polycystic Ovary Syndrome 1 |
|
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries |
OMIM:184700 |
Premature Ovarian Failure 5 |
|
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... |
OMIM:611548 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:300511 |
Placental Site Trophoblastic Tumor |
|
Amenorrhea, Metrorrhagia |
ORPHA:99928 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency |
OMIM:608996 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency |
OMIM:311360 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... |
OMIM:300510 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Premature Ovarian Failure 9 |
|
Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:615724 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Decreased testicular size, Male hypogonadism |
ORPHA:393 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:617690 |
Gestational Choriocarcinoma |
|
Metrorrhagia |
ORPHA:99926 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation, Reduced circulating prolactin concentration |
OMIM:264110 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis |
OMIM:233300 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix morphology, Pa... |
ORPHA:3411 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Xp22.3 Microdeletion Syndrome |
|
Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea, Decreased fertility |
ORPHA:1643 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... |
OMIM:612964 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism |
OMIM:616030 |
Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Oligomenorrhea |
OMIM:604931 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased testicular size |
OMIM:614858 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Amenorrhea, Abnormality of the urethra, Oligomenorrhea, Menorrhagia, Polycystic ovaries, Abnormal... |
ORPHA:2795 |
Gonadal dysgenesis, xy type, with associated anomalies |
|
Primary amenorrhea, Gonadal dysgenesis |
OMIM:233430 |
Premature Ovarian Failure 12 |
|
Primary amenorrhea |
OMIM:616947 |
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Urogenital sinus anomaly, Hypoplasia of penis, Ambiguous genitalia, male, Bifid scrotum, Ambiguou... |
ORPHA:753 |
Premature Ovarian Failure 11 |
|
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
Premature Ovarian Failure 2B |
|
Primary amenorrhea, Premature ovarian insufficiency |
OMIM:300604 |
Aromatase Deficiency |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Ovarian cyst, Female pseudohermaphroditism |
OMIM:613546 |
Hypersecretion Of Adrenal Androgens, Familial |
|
Amenorrhea, Premature pubarche |
OMIM:145295 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:615723 |
Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Micropenis, Primary amenorrhea, Decreased testicular size, Cryptorchidism |
OMIM:614880 |
46,Xy Sex Reversal 1 |
|
Sex reversal, Male pseudohermaphroditism, Abnormality of male external genitalia, Primary amenorr... |
OMIM:400044 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decr... |
OMIM:612885 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased testic... |
OMIM:229070 |
46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism |
ORPHA:242 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Hymen, Imperforate |
|
Amenorrhea, Hematocolpos, Imperforate hymen, Hydrocolpos |
OMIM:237100 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614839 |
Hyperostosis Frontalis Interna |
|
Increased circulating prolactin concentration, Irregular menstruation |
OMIM:144800 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614129 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:614324 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy |
OMIM:264270 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Secondary amenorrhea, Premature ovarian insufficiency, Goiter |
OMIM:617175 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone level |
OMIM:301033 |
Hydatidiform Mole |
|
Enlarged uterus, Menometrorrhagia |
ORPHA:99927 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Elevated circulating l... |
OMIM:273250 |
Plin1-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Infertility, Oligomenorrhea |
ORPHA:280356 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Ovarian Fibrothecoma |
|
Abnormal endometrium morphology, Metrorrhagia, Gonadal calcification, Ovarian fibroma, Abnormalit... |
ORPHA:314478 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary growth hormone deficiency, Increase... |
ORPHA:2410 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Bilateral breast hypoplasia,... |
ORPHA:52901 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female... |
ORPHA:168563 |
Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility... |
OMIM:619938 |
Leptin Deficiency Or Dysfunction |
|
Primary amenorrhea, Decreased testicular size, Micropenis, Hypogonadism |
OMIM:614962 |
Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:721 |
Kennedy Disease |
|
Testicular atrophy, Erectile dysfunction, Decreased fertility |
ORPHA:481 |
Frasier Syndrome |
|
Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea, Gonadal dysgenesis |
OMIM:136680 |
Androgen Insensitivity Syndrome |
|
Labial hypoplasia, Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:300068 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Oligomenorrhea, Primary ame... |
OMIM:615300 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty |
ORPHA:2229 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... |
OMIM:233420 |
Ovarian Dysgenesis 4 |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616185 |
Mullerian Aplasia And Hyperandrogenism |
|
Amenorrhea, Aplasia of the vagina, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube |
OMIM:158330 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Cryptorchidism, Hypoplasia of the ovary, Primary amenorrhea, Micropenis |
OMIM:618841 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism |
OMIM:612702 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:615363 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Amenorrhea, Premature ovarian insufficiency |
OMIM:619425 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Pri... |
OMIM:614841 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Micropenis, Ovarian cyst, Hypogonadotropic hypogonadism, Abnormality o... |
OMIM:228300 |
Functioning Gonadotropic Adenoma |
|
Amenorrhea, Infertility, Adrenocorticotropic hormone deficiency, Impotence, Abnormal prolactin le... |
ORPHA:91348 |
Interstitial Cystitis |
|
Abnormal vagina morphology, Dyspareunia, Abnormal labia morphology, Abnormality of the urethra, A... |
ORPHA:37202 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... |
ORPHA:1916 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:602390 |
Glucocorticoid Resistance, Generalized |
|
Infertility, Irregular menstruation |
OMIM:615962 |
Leydig Cell Hypoplasia |
|
Increased circulating gonadotropin level, Cryptorchidism, Abnormal external genitalia, Abnormal v... |
ORPHA:755 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular size, Cryptor... |
OMIM:610628 |
Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnorma... |
ORPHA:3130 |
Premature Ovarian Failure 14 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... |
OMIM:618014 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Decreased fertility, Abnormal testis morphology, Hypogonadism |
ORPHA:2233 |
Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... |
OMIM:618187 |
Pituicytoma |
|
Amenorrhea, Abnormality of the pituitary gland, Impotence, Decreased response to growth hormone s... |
ORPHA:251623 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Abnormality of the urethr... |
ORPHA:752 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the uterus, Secondary... |
ORPHA:243 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Post-Traumatic Pituitary Deficiency |
|
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... |
ORPHA:95619 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea |
OMIM:202110 |
Vaginal Atresia |
|
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Primary amenorrhea, Cervicitis, Transvers... |
ORPHA:65681 |
Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Dyspareunia, Metrorrhagia |
ORPHA:168816 |
MĂ¼llerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Primary amenorrhea, Abnormality of the ovary |
ORPHA:247768 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... |
ORPHA:206484 |
Frasier Syndrome |
|
Gonadal dysgenesis with female appearance, male, Ambiguous genitalia, male, Streak ovary, Hypergo... |
ORPHA:347 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Elevated circulat... |
ORPHA:90797 |
Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrhea, Female external... |
ORPHA:99429 |
Pituitary Adenoma 1, Multiple Types |
|
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... |
OMIM:102200 |
Hemochromatosis, Type 3 |
|
Amenorrhea, Hypogonadotropic hypogonadism, Impotence |
OMIM:604250 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Adrenocorticotropic hormone deficiency, Impotence, Precocious puberty, Decreased response to grow... |
ORPHA:91354 |
Akt2-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Oligomenorrhea |
ORPHA:79085 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Ambiguous genitalia, female, Primary amenorrhea, Increased size of the clitoris, Fused labia minora |
ORPHA:2975 |
Familial Afibrinogenemia |
|
Menometrorrhagia |
ORPHA:98880 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis |
OMIM:244200 |
Lig4 Syndrome |
|
Amenorrhea, Cryptorchidism, Micropenis |
OMIM:606593 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... |
ORPHA:2235 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia, Cryptorchidism |
OMIM:614897 |
Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
Prolactinoma |
|
Amenorrhea, Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Impotence... |
ORPHA:2965 |
Congenital Factor Vii Deficiency |
|
Ovarian cyst, Menorrhagia |
ORPHA:327 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Precocious puberty, Abnormal penis morphology, Irregular menstruation, Abnormality of the menstru... |
ORPHA:457059 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Decreased fertility in males, Erectile dysfunction, Hypogonadism, Central diabetes ins... |
ORPHA:91349 |
Lipodystrophy, Familial Partial, Type 3 |
|
Polycystic ovaries, Oligomenorrhea, Primary amenorrhea |
OMIM:604367 |
Proprotein Convertase 1/3 Deficiency |
|
Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:600955 |
Glanzmann Thrombasthenia |
|
Menorrhagia, Menometrorrhagia |
ORPHA:849 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Irregular menstruation, Supernumerary nipple |
ORPHA:1809 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the uterus, Decreased fertility in males, Dysmenorrhea, Elevated circulating follic... |
ORPHA:90796 |
Galactosemia |
|
Oligomenorrhea, Primary amenorrhea, Secondary amenorrhea, Cryptorchidism, Premature ovarian insuf... |
ORPHA:352 |
Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Primary amenorrhea, Bicornuate uterus |
OMIM:191830 |
Cidec-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Oligomenorrhea |
ORPHA:435651 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Cryptorchi... |
ORPHA:432 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating gonadotropin level, Precocious puberty in females, Blind vagina, Adrenocort... |
ORPHA:90793 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Increased circu... |
OMIM:110100 |
Lipodystrophy, Familial Partial, Type 4 |
|
Oligomenorrhea |
OMIM:613877 |
Pituitary Dermoid And Epidermoid Cysts |
|
Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligomenorrhea, Oligospermia, Anterior ... |
ORPHA:91351 |
Lipe-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Oligomenorrhea, Abnormal labia majora morphology |
ORPHA:435660 |
Polyembryoma |
|
Irregular menstruation, Isosexual precocious puberty, Macroorchidism |
ORPHA:180229 |
Congenital Generalized Lipodystrophy |
|
Amenorrhea, Precocious puberty in females, Oligomenorrhea, Clitoral hypertrophy, Polycystic ovari... |
ORPHA:528 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... |
ORPHA:199310 |
Pparg-Related Familial Partial Lipodystrophy |
|
Dysmenorrhea, Oligomenorrhea, Primary amenorrhea, Secondary amenorrhea, Polycystic ovaries |
ORPHA:79083 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:235200 |
Aromatase Deficiency |
|
Female infertility, Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Primary amenorrh... |
ORPHA:91 |
Pituitary Gigantism |
|
Amenorrhea, Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentrat... |
ORPHA:99725 |
Luscan-Lumish Syndrome |
|
Polycystic ovaries, Irregular menstruation |
OMIM:616831 |
Ovarian Fibroma |
|
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary |
ORPHA:314473 |
Primary Lipodystrophy |
|
Polycystic ovaries, Menometrorrhagia |
ORPHA:90970 |
Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis |
ORPHA:722 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, female, Precocious puberty, Premature thelarche, Irregular menstruation, Iso... |
ORPHA:90795 |
Gangliocytoma |
|
Amenorrhea, Abnormality of the pituitary gland, Pituitary null cell adenoma, Impotence, Abnormal ... |
ORPHA:251937 |
Lipodystrophy, Familial Partial, Type 5 |
|
Irregular menstruation |
OMIM:615238 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Uterus didelphys, Primary amenorrhea, Septate vagina, Aplasia of the uterus, ... |
OMIM:146255 |
Hemophilia B |
|
Menometrorrhagia |
ORPHA:98879 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Eleva... |
ORPHA:572333 |
Generalized Glucocorticoid Resistance Syndrome |
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Infertility, Precocious puberty, Oligomenorrhea, Oligospermia, Adrenal hyperplasia, Ambiguous gen... |
ORPHA:786 |
Lead Poisoning |
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Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... |
ORPHA:330015 |
Burkitt Lymphoma |
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Abnormality of the ovary |
ORPHA:543 |
Hermansky-Pudlak Syndrome 5 |
|
Menorrhagia, Metrorrhagia |
OMIM:614074 |
Klippel-Trénaunay Syndrome |
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Abnormality of the menstrual cycle |
ORPHA:90308 |
Adenohypophysitis |
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Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased male libido, Reduced cir... |
ORPHA:95512 |
Tsh-Secreting Pituitary Adenoma |
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Impotence, Decreased fertility in males, Increased circulating prolactin concentration, Erectile ... |
ORPHA:91347 |
Wolfram Syndrome 2 |
|
Oligomenorrhea, Primary amenorrhea |
OMIM:604928 |
Panhypophysitis |
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Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased male libido, Reduced cir... |
ORPHA:95513 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Abnormal ex... |
ORPHA:90794 |
Non-Acquired Panhypopituitarism |
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Amenorrhea, Infertility, Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased re... |
ORPHA:90695 |
Wilson Disease |
|
Abnormality of the menstrual cycle |
ORPHA:905 |
Malakoplakia |
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Abnormality of the menstrual cycle, Orchitis, Prostate neoplasm |
ORPHA:556 |
Bardet-Biedl Syndrome 1 |
|
Micropenis, Decreased testicular size, Hypogonadism, Vaginal atresia, Abnormality of the ovary |
OMIM:209900 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Elevated circulating follicle stimulating hormone level, Abnormal external genitalia, Micropenis,... |
ORPHA:95699 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Amenorrhea, Infertility, Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased re... |
ORPHA:95494 |
Angioosteohypertrophic Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:2346 |
Wiskott-Aldrich Syndrome |
|
Hypoplasia of the thymus, Abnormality of the menstrual cycle |
ORPHA:906 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Female infertility, Primary amenorrhea, Secondary amenorrhea, Gonadoblastoma, Increased circulati... |
ORPHA:99413 |
Turner Syndrome |
|
Female infertility, Primary amenorrhea, Secondary amenorrhea, Gonadoblastoma, Increased circulati... |
ORPHA:881 |
Mosaic Monosomy X |
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Female infertility, Primary amenorrhea, Secondary amenorrhea, Gonadoblastoma, Increased circulati... |
ORPHA:99228 |
Monosomy X |
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Female infertility, Primary amenorrhea, Secondary amenorrhea, Gonadoblastoma, Increased circulati... |
ORPHA:99226 |
Hypermobile Ehlers-Danlos Syndrome |
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Abnormality of the menstrual cycle, Cystocele, Decreased fertility |
ORPHA:285 |
African Trypanosomiasis |
|
Infertility, Impotence, Abnormality of the menstrual cycle, Abnormal prolactin level |
ORPHA:3385 |