| Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
| Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
| Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... |
ORPHA:529970 |
| Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
| Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
| Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
| Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
| Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
| Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
| Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
| Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... |
OMIM:618086 |
| Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
| Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... |
ORPHA:399805 |
| Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
| Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
| Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
| Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619834 |
| Isochromosomy Yp |
|
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... |
ORPHA:98797 |
| Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Hypogona... |
OMIM:240950 |
| Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... |
OMIM:612310 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
| Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
| Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
| Premature Ovarian Failure 10 |
|
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... |
OMIM:612885 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... |
ORPHA:52901 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
| Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
| Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
| Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... |
OMIM:612964 |
| Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... |
OMIM:615723 |
| Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... |
OMIM:615724 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
| 46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Primary amenorrhea, Aplasia of the uterus, Elevated circulating follicl... |
OMIM:273250 |
| Perrault Syndrome 3 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Pri... |
OMIM:614129 |
| Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea, Decreased fertility |
ORPHA:1643 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... |
OMIM:228300 |
| Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... |
ORPHA:98798 |
| Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
| Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Delayed puberty, Female infertility, Elevated circulating luteinizing hormo... |
OMIM:614324 |
| Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... |
OMIM:617690 |
| Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
| Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
| Androgen Insensitivity Syndrome |
|
Labial hypoplasia, Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:300068 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
| Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
| Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
| Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
| Spermatogenic Failure 24 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... |
OMIM:617959 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
| 46,Xy Sex Reversal 1 |
|
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... |
OMIM:400044 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Functioning Gonadotropic Adenoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... |
ORPHA:91348 |
| Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
| Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis |
ORPHA:242 |
| Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
| Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... |
OMIM:300510 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
| Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
| Premature Ovarian Failure 17 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm... |
OMIM:619146 |
| Premature Ovarian Failure 16 |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... |
OMIM:618723 |
| Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
| Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Oligomenorrhea |
OMIM:604931 |
| Testes, Rudimentary |
|
Decreased testicular size, Hypergonadotropic hypogonadism, Hypoplastic male external genitalia |
OMIM:273150 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
| Hyperprolactinemia |
|
Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Secondary amenorrhea, Decreased testicular size, Type II diabetes mellitus, Pol... |
ORPHA:3085 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... |
OMIM:618096 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233300 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
| Premature Ovarian Failure 2A |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate... |
OMIM:300511 |
| Ovarian Dysgenesis 8 |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplastic labia ma... |
OMIM:618187 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... |
ORPHA:2795 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
| 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 |
| Premature Ovarian Failure 20 |
|
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... |
OMIM:619938 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
| Ovarian Dysgenesis 4 |
|
Elevated circulating follicle stimulating hormone level, Decreased serum estradiol, Primary ameno... |
OMIM:616185 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h... |
ORPHA:91354 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Polycystic ovaries, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Secondar... |
OMIM:268020 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... |
ORPHA:168563 |
| Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
| Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
| Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... |
OMIM:614841 |
| Premature Ovarian Failure 11 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea |
OMIM:616946 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Premature Ovarian Failure 14 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:618014 |
| Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... |
OMIM:615363 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry... |
OMIM:614840 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... |
OMIM:618841 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
| Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Irregular menstruation, Isosexual precocious puberty, Ambiguous genitalia, Premature thelarche, P... |
ORPHA:90795 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Decreased fertility, Absence of secondary sex characteristics, Increased circulating gonadotropin... |
ORPHA:2410 |
| 46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:615300 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Premature pubarche, Secondary amenorrhea |
OMIM:612847 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... |
ORPHA:79085 |
| Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
| Precocious Puberty, Central, 1 |
|
Isosexual precocious puberty, Elevated circulating follicle stimulating hormone level, Hypothyroi... |
OMIM:176400 |
| Ovarian Dysgenesis 7 |
|
Primary amenorrhea, Delayed puberty, Hypoplasia of the uterus |
OMIM:618117 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| 46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat... |
ORPHA:243 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Polycystic ovaries, Pancreatitis, Hyperinsulinemia |
ORPHA:79084 |
| 46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Irregular menstruation, Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Abnormal... |
ORPHA:457059 |
| Frasier Syndrome |
|
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad... |
ORPHA:347 |
| Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Primary amenorrhea, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Polycystic ov... |
OMIM:604367 |
| Congenital Factor Vii Deficiency |
|
Ovarian cyst, Menorrhagia |
ORPHA:327 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal... |
ORPHA:2235 |
| Premature Ovarian Failure 1 |
|
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:311360 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Polycystic ovaries |
OMIM:608709 |
| Obesity Due To Congenital Leptin Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... |
ORPHA:66628 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... |
ORPHA:435651 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... |
ORPHA:99429 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, D... |
ORPHA:163976 |
| Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
| Satoyoshi Syndrome |
|
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Nephrogenic diabete... |
ORPHA:3130 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... |
OMIM:300200 |
| Polyembryoma |
|
Irregular menstruation, Macroorchidism, Isosexual precocious puberty, Increased serum testosteron... |
ORPHA:180229 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea |
OMIM:300604 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Oligomenorrhea, Diabetes mellitus, Polycystic ov... |
ORPHA:528 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Abnormal labia majora morphology, Decreased serum leptin, Polycystic ovaries, Decreased adiponect... |
ORPHA:435660 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... |
ORPHA:90301 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Azoospermia, Type II diabetes mellitus |
OMIM:615703 |
| Pituitary Gigantism |
|
Hyperhidrosis, Increased circulating prolactin concentration, Type II diabetes mellitus, Increase... |
ORPHA:99725 |
| Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus |
ORPHA:481 |
| Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
| Acromesomelic Dysplasia 3 |
|
Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Primary amenorrhe... |
OMIM:609441 |
| 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 8 |
|
Female infertility |
OMIM:619009 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty |
ORPHA:217377 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Gordon Holmes Syndrome |
|
Primary amenorrhea, Secondary amenorrhea, Absence of pubertal development, Oligomenorrhea, Hypogo... |
OMIM:212840 |
| Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormal testis morphology, Incr... |
ORPHA:1227 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Primary amenorrhea, Impotence, Secondary amenorrhea, Decreased testicular si... |
ORPHA:432 |
| Ovarian Dysgenesis 6 |
|
Primary amenorrhea, Absence of pubertal development, Hypergonadotropic hypogonadism, Hypoplasia o... |
OMIM:618078 |
| Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233400 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Decreased serum testosterone... |
ORPHA:163971 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
| Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... |
ORPHA:785 |
| Central Precocious Puberty |
|
Isosexual precocious puberty, Increased circulating gonadotropin level, Premature thelarche, Hypo... |
ORPHA:759 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Secondary ame... |
ORPHA:572333 |
| 46,Xy Sex Reversal 5 |
|
Elevated circulating follicle stimulating hormone level, Sex reversal |
OMIM:613080 |
| 47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Hypospadias, Male ... |
ORPHA:8 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Primary amenorrhea, Secondary amenorrhea, Maternal diabetes, Diabetes mellitus, Polycystic ovarie... |
ORPHA:79083 |
| Non-Functioning Pituitary Adenoma |
|
Impotence, Decreased female libido, Anterior hypopituitarism, Adrenal insufficiency, Increased ci... |
ORPHA:91349 |
| Preeclampsia |
|
Polycystic ovaries, Type I diabetes mellitus |
ORPHA:275555 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:168558 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Uterus didelphys, Metrorrhagia, Partial vaginal septum, Abnormal uterine cervix morphology, Dyspa... |
ORPHA:3411 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:289548 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Decreased testicular size, Infertility, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypo... |
OMIM:146110 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, Polycystic ovaries |
OMIM:616831 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Hypogonadism, Decreased testicular size, Increased circulating gonadotropin level, Cryptorchidism... |
OMIM:300869 |
| Cortisone Reductase Deficiency 2 |
|
Premature pubarche |
OMIM:614662 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Secondary amenorrhea, Diabetes mellitus, Polycystic ovaries, Dysmenorrhea, Pancreatitis |
ORPHA:2348 |
| Gonadoblastoma |
|
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
| Mccune-Albright Syndrome |
|
Decreased fertility, Macroorchidism, Irregular menstruation, Precocious puberty, Increased circul... |
ORPHA:562 |
| Primary Lipodystrophy |
|
Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia, Pancreatitis |
ORPHA:90970 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Primary amenorrhea, Precocious puberty, Hypogonadism, External genital hy... |
ORPHA:398079 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
| Ataxia-Telangiectasia |
|
Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Type II diabetes mellitus, Diabetes... |
ORPHA:100 |
| 49,Xxxyy Syndrome |
|
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, External geni... |
ORPHA:261534 |
| 46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
| Temple Syndrome |
|
Type II diabetes mellitus, Precocious puberty, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Neoplasm of the pancreas, Neoplasm of the scrotum, Metrorrhagia, Uterine neop... |
ORPHA:370348 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Abnormal va... |
OMIM:194072 |
| Distal Monosomy 10P |
|
Polycystic ovaries, Hypoplasia of penis, Cryptorchidism |
ORPHA:1580 |
| Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
| Myotonic Dystrophy 2 |
|
Oligospermia, Elevated circulating follicle stimulating hormone level, Hypogonadism, Type II diab... |
OMIM:602668 |
| Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the uterus |
OMIM:608996 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Gonadal dysgenesis, Hypogonadism, Cryptorchidism |
ORPHA:3306 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:98754 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Primary amenorrhea, Primary gonadal insufficiency, Impotence, Aplasia of the ovary, Decreased ser... |
ORPHA:2232 |
| Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... |
ORPHA:786 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Decreased serum leptin, Primary amenorrhea, Micropenis |
OMIM:614962 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad... |
OMIM:610475 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Anterior h... |
ORPHA:91351 |
| Septopreoptic Holoprosencephaly |
|
Anterior hypopituitarism, Central diabetes insipidus, Precocious puberty |
ORPHA:280195 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:98793 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
| Perrault Syndrome 5 |
|
Hypergonadotropic hypogonadism, Gonadal dysgenesis, Primary amenorrhea |
OMIM:616138 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa... |
ORPHA:64739 |
| Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu... |
ORPHA:95619 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:177904 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
| Donohue Syndrome |
|
Hyperinsulinemia, Precocious puberty, Long penis, Pancreatic islet-cell hyperplasia, Ovarian cyst... |
OMIM:246200 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:177901 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Premature pubarche, Cryptorchidism |
ORPHA:457205 |
| Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormality of the ovary, Hypoplasia of the uterus, Primary a... |
ORPHA:247768 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Aromatase Deficiency |
|
Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes me... |
ORPHA:91 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism |
OMIM:614858 |
| 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 6 |
|
Female infertility |
OMIM:618353 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| 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 5 |
|
Female infertility |
OMIM:617996 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Abnor... |
OMIM:614736 |
| Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Aarskog-Scott Syndrome |
|
Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a... |
OMIM:305400 |
| 49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... |
ORPHA:99330 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Decreased testicular size, Infertility, Reduced sperm motility, Abnormal sperm head morphology, A... |
ORPHA:320391 |
| Familial Adenomatous Polyposis 4 |
|
Renal cyst, Ovarian cyst, Uterine leiomyoma, Thyroid adenoma |
OMIM:617100 |
| Prader-Willi Syndrome |
|
Central hypothyroidism, Precocious puberty, Hypoplastic labia majora, Small pituitary gland, Prim... |
ORPHA:739 |
| Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:398073 |
| Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
| Dystonia 28 |
|
Hypothyroidism, Precocious puberty |
ORPHA:589618 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level... |
OMIM:110100 |
| Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... |
OMIM:312300 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Long penis, Insulin-resistant diabet... |
OMIM:262190 |
| Bardet-Biedl Syndrome |
|
Multicystic kidney dysplasia, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Cryptor... |
ORPHA:110 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryp... |
ORPHA:1772 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty |
ORPHA:254525 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty |
ORPHA:457260 |
| Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... |
ORPHA:1916 |
| Isolated Splenogonadal Fusion |
|
Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Bilateral cryptorchi... |
ORPHA:457083 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... |
ORPHA:95699 |
| Frasier Syndrome |
|
Male pseudohermaphroditism, Gonadal dysgenesis, Ovarian gonadoblastoma, Primary amenorrhea |
OMIM:136680 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Oligospermia, Cryptorchidism |
OMIM:314300 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Decreased testicular size, Breast aplasia, Type I diabetes mellitus, Elevated circulating luteini... |
ORPHA:3044 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Delayed puberty, Polycystic ovaries, Oligomenorrhea, Dysmenorrhea |
ORPHA:370 |
| Mccune-Albright Syndrome |
|
Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidism, Increased cir... |
OMIM:174800 |
| Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
| Intellectual Developmental Disorder, Autosomal Recessive 76 |
|
Precocious puberty in females |
OMIM:619931 |
| Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Supernumerary nipple, Cryptorchidism |
OMIM:619243 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:616030 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Primary amenorrhea, Precocious puberty, Hypogonadism, External genital hy... |
ORPHA:398069 |
| Cowden Syndrome 5 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Go... |
OMIM:615108 |
| Hyperostosis Frontalis Interna |
|
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration |
OMIM:144800 |
| Cowden Syndrome 6 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Varicocele, Ovarian cyst, Thyroid... |
OMIM:615109 |
| Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
| Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Testicular ad... |
ORPHA:361 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Maturity-onset diabetes of the young |
ORPHA:254531 |
| Temple Syndrome |
|
Decreased testicular size, Precocious puberty, Maturity-onset diabetes of the young, Cryptorchidism |
OMIM:616222 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Gonadal dysgenesis |
ORPHA:1770 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormality of thalamus morphology, Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Dysmenorrhea, Polycystic ovaries, Oligomenorrhea |
ORPHA:79240 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... |
ORPHA:90794 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Delayed puberty, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypo... |
OMIM:612702 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co... |
OMIM:250790 |
| Congenital Fibrinogen Deficiency |
|
Decreased testicular size, Hemorrhagic ovarian cyst, Micropenis |
ORPHA:335 |
| Ollier Disease |
|
Precocious puberty |
ORPHA:296 |
| Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male infertility, Male pse... |
ORPHA:754 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea |
OMIM:264270 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Diabetes mellitus, Absence of pubertal development, Cryptorchidism, Pr... |
OMIM:610628 |
| Woolly Hair Nevus |
|
Precocious puberty |
ORPHA:79414 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty |
OMIM:619877 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Delayed puberty, Polycystic ovaries, Oligomenorrhea, Dysmenorrhea |
ORPHA:264580 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Precocious puberty |
OMIM:300801 |
| Optic Pathway Glioma |
|
Precocious puberty |
ORPHA:2086 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301033 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
| Cowden Syndrome 1 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Varicocele, Ovarian carcinoma, Ov... |
OMIM:158350 |
| Silver-Russell Syndrome |
|
Hyperhidrosis, Precocious puberty, Decreased testicular size, Premature adrenarche, Hypospadias, ... |
ORPHA:813 |
| Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact... |
OMIM:102200 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty |
OMIM:300958 |
| Fragile X Syndrome |
|
Periventricular heterotopia, Congenital macroorchidism, Macroorchidism, postpubertal |
OMIM:300624 |
| 17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
| Carney Complex |
|
Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... |
ORPHA:1359 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty |
OMIM:619356 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Secondary amenorrhea, Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Di... |
ORPHA:280365 |
| Prader-Willi Syndrome |
|
Primary amenorrhea, Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone st... |
OMIM:176270 |
| Interstitial Cystitis |
|
Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormality of the ur... |
ORPHA:37202 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Small pituitary gland, Cryptorchidism, Primary amenorrhea, Micropenis |
OMIM:614880 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Maturity-onset diabetes of the young, Cryptorchidism |
ORPHA:96184 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Elevated serum 11-deoxycortisol, Adrenogenital syndrome, Increased serum testosterone level, Decr... |
OMIM:202010 |
| Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
| Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... |
ORPHA:3464 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
| 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypothyroidism, Ambiguous genitalia, Infertility, Male pseudohermaphroditism, Cryptorchidism, Hyp... |
ORPHA:752 |
| Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea |
OMIM:602390 |
| Tetragametic Chimerism |
|
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... |
ORPHA:199310 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Azoospermia, Hypergonadotropic hypogonadism |
ORPHA:2183 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
| Prolactinoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormone deficiency... |
ORPHA:2965 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Absent scrotum, Ambiguous genitalia, Scrotal hypospadias, Elevated circulating 17-hydroxyprogeste... |
OMIM:201810 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Ovarian cyst, Endometrial carcinoma |
ORPHA:454840 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Decreased fertility in females, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty,... |
OMIM:608594 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Micropenis, Labial hypoplasia, Cryptorchidism |
OMIM:620073 |
| Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Hyperthyroidism, Increased circulating cortisol level, Thyroid car... |
ORPHA:249 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Nodular goiter, Polycystic ovaries, Premature thelarche, Type I diabetes mellitus |
ORPHA:371428 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
| Cystic Echinococcosis |
|
Renal cyst, Ovarian cyst, Hepatic cysts, Abnormality of the testis size |
ORPHA:400 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased fertility, Decreased fertility in females, Hyperinsulinemia, Insulin-resistant diabetes... |
OMIM:269700 |
| 19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Precocious puberty |
ORPHA:447980 |
| Peutz-Jeghers Syndrome |
|
Uterine neoplasm, Ovarian cyst, Neoplasm of the pancreas, Precocious puberty with Sertoli cell tumor |
OMIM:175200 |
| Pituitary Stalk Interruption Syndrome |
|
Primary amenorrhea, Hypothyroidism, Diabetes insipidus, Hypoplasia of penis, Ectopic posterior pi... |
ORPHA:95496 |
| Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Diabetic ketoacidosis, Lo... |
ORPHA:769 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Primary amenorrhea, ... |
OMIM:158330 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Ambiguous genitalia, Adrenal hyperplasia, Male pseudohermaphroditism, Pri... |
OMIM:202110 |
| Short Syndrome |
|
Ovarian cyst, Insulin-resistant diabetes mellitus |
OMIM:269880 |
| Hemochromatosis, Type 1 |
|
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame... |
OMIM:235200 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Isosexual precocious puberty |
ORPHA:2788 |
| Proteus-Like Syndrome |
|
Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia |
ORPHA:2969 |
| 19P13.12 Microdeletion Syndrome |
|
Hypothyroidism, Hypospadias, Precocious puberty, Cryptorchidism |
ORPHA:254346 |
| Basilicata-Akhtar Syndrome |
|
Precocious puberty |
OMIM:301032 |
| Acquired Generalized Lipodystrophy |
|
Acute pancreatitis, Polycystic ovaries, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:79086 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplastic labia majora, Clitoral hypoplasia, Elevated circulating luteinizing hormone level, Go... |
OMIM:618419 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus |
OMIM:277000 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... |
ORPHA:280679 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Macroorchidism |
OMIM:300055 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
| Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
| Seckel Syndrome 7 |
|
Central hypothyroidism, Primary amenorrhea, Hypoplasia of the uterus |
OMIM:614851 |
| Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Impotence, Decreased female libido, Euthyroid hyperthyroxinemia, Increa... |
ORPHA:91347 |
| Infantile Systemic Hyalinosis |
|
Aplasia/Hypoplasia of the thymus, Polycystic ovaries, Abnormality of the adrenal glands |
ORPHA:2176 |
| Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Absent inner dynein arms, Male infertility, Immotile sperm |
OMIM:614874 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... |
ORPHA:90791 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
| Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis |
ORPHA:722 |
| Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Micropenis, Cryptorchidism |
OMIM:244200 |
| Lig4 Syndrome |
|
Hypothyroidism, Micropenis, Amenorrhea, Cryptorchidism |
OMIM:606593 |
| Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
| Placental Site Trophoblastic Tumor |
|
Metrorrhagia, Amenorrhea |
ORPHA:99928 |
| Hyperparathyroidism, Transient Neonatal |
|
Patent ductus arteriosus, Ovarian cyst, Hyperparathyroidism |
OMIM:618188 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Goiter, Secondary amenorrhea |
OMIM:617175 |
| Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
| Myhre Syndrome |
|
Precocious puberty, Hypogonadism, External genital hypoplasia, Epispadias, Hypospadias, Cryptorch... |
ORPHA:2588 |
| Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... |
OMIM:612650 |
| Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Reduced spe... |
OMIM:613807 |
| Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Impotence, Amenorrhea |
OMIM:604250 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
| Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
| Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
| Hemochromatosis, Type 2B |
|
Hypogonadism, Secondary amenorrhea |
OMIM:613313 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Labial pseudohypertrophy, Type II diabetes mellitus, Polycystic ovaries, Acute ... |
OMIM:151660 |
| Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... |
ORPHA:65681 |
| Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
| Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia |
OMIM:612649 |
| Renal Hypodysplasia/Aplasia 1 |
|
Primary amenorrhea, Vaginal atresia, Bicornuate uterus |
OMIM:191830 |
| Slc35A2-Cdg |
|
Precocious puberty, Elevated circulating thyroid-stimulating hormone concentration |
ORPHA:356961 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le... |
OMIM:201750 |
| Smith-Magenis Syndrome |
|
Hypothyroidism, Delayed puberty, Precocious puberty |
ORPHA:819 |
| Carpenter Syndrome 1 |
|
External genital hypoplasia, Precocious puberty, Patent ductus arteriosus, Cryptorchidism |
OMIM:201000 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Increased serum testosterone level, Enlarged polycystic ovaries, Diabetic ketoa... |
ORPHA:2298 |
| Phakomatosis Pigmentokeratotica |
|
Hyperhidrosis, Precocious puberty, Pheochromocytoma, Cryptorchidism |
ORPHA:2874 |
| Deafness-Hypogonadism Syndrome |
|
Delayed puberty, Abnormal spermatogenesis, Hypergonadotropic hypogonadism |
ORPHA:90646 |
| Gangliocytoma |
|
Hyperhidrosis, Adrenocorticotropic hormone excess, Impotence, Decreased female libido, Pituitary ... |
ORPHA:251937 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Ovarian serous cystadenoma |
ORPHA:276280 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased testicular size, Azoospermia, Hypergonadotropic hypogonadism, Decreased response to gro... |
OMIM:300845 |
| Radio-Tartaglia Syndrome |
|
Precocious puberty |
OMIM:619312 |
| Pallister-Hall Syndrome |
|
Patent ductus arteriosus, Precocious puberty, Decreased response to growth hormone stimulation te... |
OMIM:146510 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hype... |
ORPHA:300373 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Patent ductus arteriosus, Precocious puberty, Abnormality of female external genitalia |
ORPHA:2637 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Rectovaginal fistula, Precocious puberty |
OMIM:608980 |
| Kallmann Syndrome |
|
Primary amenorrhea, Decreased fertility, Decreased testicular size, Anterior hypopituitarism, Hyp... |
ORPHA:478 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Irregular menstruation, Hypothyroidism, Thyroiditis, Polycystic ovaries, Delayed puberty, Menorrh... |
ORPHA:79259 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Azoo... |
ORPHA:261519 |
| Pituitary Apoplexy |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:95613 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Delayed puberty, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Micropenis |
OMIM:147950 |
| Lead Poisoning |
|
Decreased female libido, Infertility, Decreased circulating osteocalcin level, Abnormality of the... |
ORPHA:330015 |
| 9P13 Microdeletion Syndrome |
|
External genital hypoplasia, Precocious puberty |
ORPHA:324313 |
| Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Multiple renal cysts, Enlarged polycystic ovaries, Cervix cancer |
ORPHA:2869 |
| Classic Galactosemia |
|
Decreased fertility in females, Secondary amenorrhea, Premature ovarian insufficiency, Oligomenor... |
ORPHA:79239 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Abnormality of female external genitalia, Increased circulating ACTH level, Decre... |
ORPHA:90790 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... |
OMIM:278850 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Ring Chromosome 21 Syndrome |
|
Diabetes insipidus, Infertility, Azoospermia, Amenorrhea |
ORPHA:1445 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Proprotein Convertase 1/3 Deficiency |
|
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Primary amenorrhea |
OMIM:600955 |
| Galactosemia |
|
Decreased fertility, Secondary amenorrhea, Premature ovarian insufficiency, Oligomenorrhea, Decre... |
ORPHA:352 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hyperhidrosis, Precocious puberty, Decreased response to growth hormone stimulation test, Hypospa... |
ORPHA:96182 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Micropenis, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism |
ORPHA:96092 |
| Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm |
OMIM:613808 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Precocious puberty |
ORPHA:261652 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unicornuate uterus, Multicystic kidney dysplasia, Renal cyst, Aplasia of the uterus, Urethral ste... |
OMIM:614527 |
| Leopard Syndrome 1 |
|
Aplasia of the ovary, Hypoplasia of the ovary, Hypospadias, Delayed puberty, Cryptorchidism, Micr... |
OMIM:151100 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty |
OMIM:163200 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Non-Acquired Panhypopituitarism |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ... |
ORPHA:90695 |
| Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility, Mitochondrial hypertrophy |
OMIM:619518 |
| Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Absent outer dynein arms, Azoospermia |
OMIM:618300 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism |
OMIM:615234 |
| Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95513 |
| Angelman Syndrome |
|
Precocious puberty in females, Delayed menarche |
ORPHA:72 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty |
ORPHA:163681 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Patent ductus arteriosus, Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Labia... |
ORPHA:96191 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Primary testicular failure, Hypogonadism, Abnormal testis morphology, Oligospermia, Male infertility |
ORPHA:85450 |
| Bainbridge-Ropers Syndrome |
|
Precocious puberty, Supernumerary nipple, Cryptorchidism |
OMIM:615485 |
| Ciliary Dyskinesia, Primary, 22 |
|
Absent inner and outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615444 |
| Orofaciodigital Syndrome I |
|
Pancreatic cysts, Polycystic kidney dysplasia, Hepatic cysts, Ovarian cyst, Hypothalamic hamartoma |
OMIM:311200 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Hypospadias, Polymicrogyria |
OMIM:618874 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... |
ORPHA:90674 |
| Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, E... |
OMIM:617253 |
| Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility |
OMIM:612444 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypothyroidism, Premature thelarche, Premature pubarche |
OMIM:616878 |
| Tuberous Sclerosis 1 |
|
Renal cyst, Hypothyroidism, Precocious puberty, Adenoma sebaceum |
OMIM:191100 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis |
ORPHA:2239 |
| Gray Platelet Syndrome |
|
