Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea |
OMIM:300604 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Hyperprolactinemia |
|
Female infertility, Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... |
ORPHA:488191 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Abno... |
ORPHA:261529 |
Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... |
OMIM:612310 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Short stature, Hypogonadism, Ataxia, Postnatal growth retardation |
OMIM:616113 |
Premature Ovarian Failure 20 |
|
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... |
OMIM:619938 |
Gordon Holmes Syndrome |
|
Secondary amenorrhea, Oligomenorrhea, Ataxia, Absence of pubertal development, Primary amenorrhea... |
OMIM:212840 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry... |
OMIM:614840 |
Ovarian Dysgenesis 4 |
|
Decreased body weight, Decreased serum estradiol, Short stature, Primary amenorrhea, Elevated cir... |
OMIM:616185 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Short stature, Premature ovarian insufficiency, Failure to thrive, Female infertility, Loss of am... |
OMIM:619518 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Premature Ovarian Failure 1 |
|
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:311360 |
Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Delayed puberty, Female infertility, Elevated circulating luteinizing hormo... |
OMIM:614324 |
Placental Site Trophoblastic Tumor |
|
Metrorrhagia, Amenorrhea |
ORPHA:99928 |
Hyperostosis Frontalis Interna |
|
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration, Obesity |
OMIM:144800 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... |
OMIM:618096 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Infertility, Obesity, Oligomenorrhea |
OMIM:604931 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Decreased serum leptin, Primary amenorrhea, Obesity, Mic... |
OMIM:614962 |
Ovarian Dysgenesis 7 |
|
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:618117 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Decreased fertility, Short stature, Absence of secondary sex characteristics, Increased circulati... |
ORPHA:2410 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233300 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... |
ORPHA:52901 |
Premature Ovarian Failure 16 |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... |
OMIM:618723 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... |
OMIM:300510 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
46,Xy Sex Reversal 1 |
|
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... |
OMIM:400044 |
Premature Ovarian Failure 17 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm... |
OMIM:619146 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Short stature, Elevated circulating luteinizing hormone level, Primary... |
OMIM:617690 |
Aromatase Deficiency |
|
Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes mellitus, Eunuchoid ha... |
ORPHA:91 |
Polycystic Ovary Syndrome 1 |
|
Obesity, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619834 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormal spermatogenesis, Testicular microlithiasis, Secondary amenorrhea, Decreased circulating ... |
OMIM:228300 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Decreased serum testosterone concentration, Aplasia of the uterus, Elev... |
OMIM:273250 |
Perrault Syndrome 4 |
|
Primary amenorrhea, Gait ataxia, Decreased serum estradiol, Secondary amenorrhea, Premature ovari... |
OMIM:615300 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... |
OMIM:612964 |
Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
Hemochromatosis, Type 2A |
|
Infertility, Azoospermia, Hypogonadotropic hypogonadism, Lethargy, Amenorrhea |
OMIM:602390 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... |
ORPHA:168563 |
46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Short stature, Secondary ame... |
ORPHA:243 |
Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu... |
ORPHA:95619 |
Premature Ovarian Failure 11 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea |
OMIM:616946 |
Bdv Syndrome |
|
Primary amenorrhea, Central hypothyroidism, Decreased circulating follicle stimulating hormone co... |
OMIM:619326 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... |
OMIM:618078 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level... |
OMIM:110100 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... |
OMIM:614841 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:616030 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:721 |
Premature Ovarian Failure 2A |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate... |
OMIM:300511 |
Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... |
OMIM:615723 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... |
ORPHA:90796 |
Functioning Gonadotropic Adenoma |
|
Impotence, Decreased female libido, Anterior hypopituitarism, Oligospermia, Increased circulating... |
ORPHA:91348 |
Premature Ovarian Failure 10 |
|
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... |
OMIM:612885 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... |
OMIM:615724 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased testicular size, Cryptorchidism, Primary amenorrhea |
OMIM:614858 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
Premature Ovarian Failure 14 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:618014 |
Pituitary Stalk Interruption Syndrome |
|
Primary amenorrhea, Hypothyroidism, Diabetes insipidus, Short stature, Hypoplasia of penis, Ectop... |
ORPHA:95496 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Uterus didelphys, Metrorrhagia, Partial vaginal septum, Dyspareunia, Abnormal uterine cervix morp... |
ORPHA:3411 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
Peritoneal Cystic Mesothelioma |
|
Weight loss, Metrorrhagia, Dyspareunia, Menorrhagia |
ORPHA:168816 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased serum testosterone level, Increased circulating cortisol level,... |
OMIM:615962 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... |
OMIM:618841 |
Leydig Cell Hypoplasia |
|
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Primary gonadal insufficienc... |
ORPHA:755 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Small for gestational age, Premature ... |
ORPHA:1916 |
Perrault Syndrome 3 |
|
Streak ovary, Short stature, Elevated circulating luteinizing hormone level, Hypergonadotropic hy... |
OMIM:614129 |
Prolactinoma |
|
Impotence, Decreased female libido, Anterior hypopituitarism, Secondary growth hormone deficiency... |
ORPHA:2965 |
Ovarian Dysgenesis 8 |
|
Hypoplastic labia majora, Eunuchoid habitus, Elevated circulating luteinizing hormone level, Prim... |
OMIM:618187 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... |
ORPHA:99429 |
Polyembryoma |
|
Irregular menstruation, Macroorchidism, Isosexual precocious puberty, Increased serum testosteron... |
ORPHA:180229 |
Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact... |
OMIM:102200 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Decreased female libido, Anterior hypopituitarism, Adrenal insufficiency, Increased ci... |
ORPHA:91349 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypothyroidism, Abnormality of the scrotum, Bifid scrotum, Small for gestational age, Microphallu... |
ORPHA:397590 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614839 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, Precocious puberty, Premature thelarche, Ambiguous genitalia, female, Decrea... |
ORPHA:90795 |
Proprotein Convertase 1/3 Deficiency |
|
Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level, Primary amenorrhea |
OMIM:600955 |
Lipodystrophy, Familial Partial, Type 5 |
|
Irregular menstruation, Decreased serum leptin, Diabetic ketoacidosis, Decreased adiponectin level |
OMIM:615238 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Irregular menstruation, Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Abnormal... |
ORPHA:457059 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Secondary ame... |
ORPHA:572333 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... |
ORPHA:79085 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... |
ORPHA:90794 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... |
ORPHA:2795 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Primary amenorrhea, ... |
OMIM:158330 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Premature ovarian insuffic... |
ORPHA:96179 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
Interstitial Cystitis |
|
Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormality of the ur... |
ORPHA:37202 |
Generalized Glucocorticoid Resistance Syndrome |
|
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... |
ORPHA:786 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Impotence, Decreased female libido, Euthyroid hyperthyroxinemia, Increa... |
ORPHA:91347 |
Non-Acquired Panhypopituitarism |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu... |
ORPHA:90695 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus |
OMIM:277000 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Short stature, Secondary ameno... |
ORPHA:99413 |
Turner Syndrome |
|
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Short stature, Secondary ameno... |
ORPHA:881 |
Mosaic Monosomy X |
|
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Short stature, Secondary ameno... |
ORPHA:99228 |
Monosomy X |
|
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Short stature, Secondary ameno... |
ORPHA:99226 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Coffin-Lowry Syndrome |
|
Coxa valga, Tapered finger, Short metacarpal, Hyperextensibility of the finger joints, Narrow ili... |
OMIM:303600 |
Diets-Jongmans Syndrome |
|
Hip dysplasia, Aggressive behavior |
OMIM:618846 |