| Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... |
ORPHA:1646 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size |
OMIM:619689 |
| Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
| Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
| Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... |
OMIM:619949 |
| Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
| Familial Hyperprolactinemia |
|
Amenorrhea, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Menorrhagia, Female hypogonadism |
ORPHA:397685 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
| Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
| Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
| Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
| Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
| Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
| Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... |
ORPHA:399805 |
| Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... |
ORPHA:52901 |
| Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
| Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
| Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
| Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
| Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
| Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
| Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... |
OMIM:612964 |
| Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:615723 |
| 46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... |
OMIM:273250 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Xp22.3 Microdeletion Syndrome |
|
Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea, Decreased fertility |
ORPHA:1643 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
| Premature Ovarian Failure 13 |
|
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
| Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:614324 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
| Spermatogenic Failure, X-Linked, 4 |
|
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... |
OMIM:301077 |
| Androgen Insensitivity Syndrome |
|
Labial hypoplasia, Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:300068 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty |
ORPHA:2229 |
| Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
| 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 |
| Spermatogenic Failure 24 |
|
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... |
OMIM:617959 |
| 46,Xy Sex Reversal 1 |
|
Sex reversal, Male pseudohermaphroditism, Elevated circulating luteinizing hormone level, Abnorma... |
OMIM:400044 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
| Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
| Functioning Gonadotropic Adenoma |
|
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... |
ORPHA:91348 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
| Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Decreased circulating follicle stimu... |
OMIM:229070 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Ab... |
ORPHA:280356 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism |
ORPHA:242 |
| 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 |
| Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
| Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... |
OMIM:300510 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
| Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
| Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... |
OMIM:619146 |
| Polycystic Ovary Syndrome 1 |
|
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries |
OMIM:184700 |
| Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Decreased... |
OMIM:618723 |
| Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
| Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
| Premature Ovarian Failure 5 |
|
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... |
OMIM:611548 |
| Adenomyosis |
|
Dysmenorrhea, Adenomyosis |
OMIM:600458 |
| Cortisone Reductase Deficiency 1 |
|
Infertility, Oligomenorrhea, Precocious puberty |
OMIM:604931 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| 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 |
| Hypersecretion Of Adrenal Androgens, Familial |
|
Amenorrhea, Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity |
OMIM:145295 |
| Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea... |
ORPHA:3085 |
| Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:618187 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Amenorrhea, Abnormality of the urethra, Menorrhagia, Oligomenorrhea, Polycystic ovaries, Abnormal... |
ORPHA:2795 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... |
ORPHA:261529 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis |
OMIM:233300 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... |
ORPHA:90796 |
| Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
| Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
| Premature Ovarian Failure 20 |
|
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... |
OMIM:619938 |
| Ovarian Dysgenesis 4 |
|
Elevated circulating follicle stimulating hormone level, Primary amenorrhea, Decreased serum estr... |
OMIM:616185 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
| Rudiger Syndrome |
|
Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
| Leydig Cell Hypoplasia, Type I |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level |
OMIM:238320 |
| Premature Ovarian Failure 11 |
|
Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... |
OMIM:614841 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea, Insulin-resistant diabe... |
OMIM:268020 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Adrenocorticotropic hormone deficiency, Precocious puberty, Impotence, Decreased response to grow... |
ORPHA:91354 |
| Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
| Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:614840 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... |
OMIM:618841 |
| Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
| Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
| Premature Ovarian Failure 14 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:618014 |
| Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
| Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Ambiguous genitalia, female, Precocious puberty, Decreased ci... |
ORPHA:90795 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Sec... |
ORPHA:2410 |
| 46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... |
OMIM:612965 |
| Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Primary amenorrhea, Oligome... |
OMIM:615300 |
| Gordon Holmes Syndrome |
|
Hypogonadotropic hypogonadism, Oligomenorrhea, Infertility |
OMIM:212840 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Premature pubarche, Secondary amenorrhea |
OMIM:612847 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... |
ORPHA:79085 |
| Precocious Puberty, Central, 1 |
|
Hypothyroidism, Elevated circulating luteinizing hormone level, Elevated circulating follicle sti... |
OMIM:176400 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... |
OMIM:146110 |
| Leydig Cell Hypoplasia |
|
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... |
ORPHA:755 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries, Diabetes mellitus |
OMIM:608709 |
| 46,Xx Gonadal Dysgenesis |
|
Streak ovary, Primary amenorrhea, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Secondary... |
ORPHA:243 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis |
OMIM:607080 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Hypergonadotropic hypogonadism, Streak ovary |
OMIM:241090 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty |
OMIM:618117 |
| 46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... |
OMIM:400045 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Polycystic ovaries, Hyperinsulinemia, Pancreatitis, Diabetes mellitus |
ORPHA:79084 |
| Frasier Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... |
ORPHA:347 |
| Congenital Factor Vii Deficiency |
|
Ovarian cyst, Menorrhagia |
ORPHA:327 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Type II diabetes mellitus, Oligomenorrhea, Primary amenorrhea, Maternal diabete... |
OMIM:604367 |
| Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Abnorma... |
ORPHA:457059 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... |
ORPHA:2235 |
| Precocious Puberty, Male-Limited |
|
Precocious puberty in males, Decreased testicular size |
OMIM:176410 |
| Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency |
OMIM:311360 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycy... |
ORPHA:435651 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
| Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... |
ORPHA:99429 |
| Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:179494 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
| Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
| Premature Ovarian Failure 9 |
|
Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:615724 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptorchidism, Hypergonad... |
ORPHA:163976 |
| Satoyoshi Syndrome |
|
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Ab... |
ORPHA:3130 |
| Congenital Generalized Lipodystrophy |
|
Amenorrhea, Precocious puberty in females, Hyperinsulinemia, Oligomenorrhea, Clitoral hypertrophy... |
ORPHA:528 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
| Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
OMIM:300200 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... |
ORPHA:435660 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... |
ORPHA:90301 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Type II diabetes mellitus, Azoospermia, Oligospermia |
OMIM:615703 |
| Pituitary Gigantism |
|
Amenorrhea, Pituitary growth hormone cell adenoma, Increased circulating insulin-like growth fact... |
ORPHA:99725 |
| Hyperprolactinemia |
|
Increased circulating prolactin concentration, Infertility, Oligomenorrhea, Menorrhagia |
OMIM:615555 |
| Polyembryoma |
|
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... |
ORPHA:180229 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormon... |
OMIM:609441 |
| Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
| Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
| Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
| Estrogen Resistance Syndrome |
|
Hypoplasia of the uterus, Hyperinsulinemia, Absence of pubertal development, Primary amenorrhea, ... |
ORPHA:785 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty |
ORPHA:217377 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
| Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal endometrium morphology, Metrorrhagia, Abnormal circu... |
ORPHA:314478 |
| Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot... |
ORPHA:432 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Female infertility, Streak ovary, Hypergonadotropic hypogonadism, Eleva... |
ORPHA:572333 |
| Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis |
OMIM:233400 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Decreased serum testosterone concentration, Cryptorchidism, Hypergonadotropic hypogonadism, Hypos... |
ORPHA:163971 |
| 46,Xy Sex Reversal 5 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Dysmenorrhea, Primary amenorrhea, Oligomenorrhea, Maternal diabetes, Secondary amen... |
ORPHA:79083 |
| 47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... |
ORPHA:8 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:289548 |
| Central Precocious Puberty |
|
Premature thelarche, Increased circulating gonadotropin level, Isosexual precocious puberty, Hypo... |
ORPHA:759 |
| Gonadal dysgenesis, xy type, with associated anomalies |
|
Primary amenorrhea, Gonadal dysgenesis |
OMIM:233430 |
| Preeclampsia |
|
Polycystic ovaries, Type I diabetes mellitus |
ORPHA:275555 |
| Non-Functioning Pituitary Adenoma |
|
Impotence, Central adrenal insufficiency, Decreased fertility in males, Erectile dysfunction, Hyp... |
ORPHA:91349 |
| Luscan-Lumish Syndrome |
|
Polycystic ovaries, Irregular menstruation |
OMIM:616831 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix morphology, Pa... |
ORPHA:3411 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Decreased serum testosterone concentration, Cryptorchidism, Decreased testicular size, Hypogonadi... |
OMIM:300869 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... |
OMIM:233420 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:617690 |
| Cortisone Reductase Deficiency 2 |
|
Premature pubarche |
OMIM:614662 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... |
ORPHA:206484 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Dysmenorrhea, Secondary amenorrhea, Diabetes mellitus, Polycystic ovaries |
ORPHA:2348 |
| 49,Xxxyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:261534 |
| Primary Lipodystrophy |
|
Polycystic ovaries, Type II diabetes mellitus, Pancreatitis, Menometrorrhagia |
ORPHA:90970 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Infertility, Precocious puberty, Type II diabetes mellitus, External genital hypoplasia, Small pi... |
ORPHA:398079 |
| Mccune-Albright Syndrome |
|
Increased serum testosterone level, Precocious puberty, Elevated circulating growth hormone conce... |
ORPHA:562 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Cryptorchidism, Precocious puberty, Gonadal dysgenesis, Hypogonadism |
ORPHA:3306 |
| Ataxia-Telangiectasia |
|
Type II diabetes mellitus, Delayed puberty, Diabetes mellitus, Polycystic ovaries, Aplasia/Hypopl... |
ORPHA:100 |
| Temple Syndrome |
|
Cryptorchidism, Precocious puberty, Decreased response to growth hormone stimulation test, Type I... |
ORPHA:254516 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
| Amenorrhea-Galactorrhea Syndrome |
|
Pituitary adenoma, Secondary amenorrhea |
OMIM:104600 |
| Distal Monosomy 10P |
|
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis |
ORPHA:1580 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... |
OMIM:194072 |
| Pituicytoma |
|
Abnormality of the pituitary gland, Amenorrhea, Impotence, Decreased serum testosterone concentra... |
ORPHA:251623 |
| Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
| Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency |
OMIM:608996 |
| Myotonic Dystrophy 2 |
|
Oligospermia, Elevated circulating follicle stimulating hormone level, Type II diabetes mellitus,... |
OMIM:602668 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Precocious puberty, Uterine neoplasm, Ovarian neoplasm, Pancreatitis, M... |
ORPHA:370348 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:98754 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Impotence, Decreased serum testosterone concentration, Cryptorchidism, Small pituita... |
ORPHA:2232 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:98793 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... |
ORPHA:786 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligomenorrhea, Oligospermia, Anterior ... |
ORPHA:91351 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:177904 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism |
OMIM:616030 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:177901 |
| Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614129 |
| Septopreoptic Holoprosencephaly |
|
Central diabetes insipidus, Precocious puberty, Anterior hypopituitarism |
ORPHA:280195 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Cryptorchidism, Precocious puberty, Congenital hypothyroidism |
OMIM:614736 |
| Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating... |
ORPHA:64739 |
| Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Ovarian cyst, Long penis, Pancreatic islet-cell hyperplasia... |
OMIM:246200 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Premature pubarche, Cryptorchidism |
ORPHA:457205 |
| Perrault Syndrome 5 |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis |
OMIM:616138 |
| Post-Traumatic Pituitary Deficiency |
|
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... |
ORPHA:95619 |
| Aromatase Deficiency |
|
Ambiguous genitalia, female, Female infertility, Type II diabetes mellitus, Hypergonadotropic hyp... |
ORPHA:91 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Primary... |
ORPHA:247768 |
| Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
| Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
| 49,Xyyyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:99330 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... |
ORPHA:320391 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Micropenis, Primary amenorrhea, Decreased testicular size, Cryptorchidism |
OMIM:614880 |
| Aarskog-Scott Syndrome |
|
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... |
OMIM:305400 |
| Leptin Deficiency Or Dysfunction |
|
Micropenis, Primary amenorrhea, Decreased serum leptin, Decreased testicular size, Hypogonadism |
OMIM:614962 |
| Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
| Prader-Willi Syndrome |
|
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:739 |
| Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
| Prader-Willi-Like Syndrome |
|
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:398073 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Increased circu... |
OMIM:110100 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Long penis, Clitoral hypertrophy, In... |
OMIM:262190 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... |
OMIM:614897 |
| Xp22.13P22.2 Duplication Syndrome |
|
Polycystic ovaries, Macroorchidism |
ORPHA:284180 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Breas... |
ORPHA:3044 |
| Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Hypoplasia of penis, Multicystic kidney dysplasia, Hypogonadism, Cryptor... |
ORPHA:110 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty |
ORPHA:254525 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligospermia |
OMIM:314300 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... |
ORPHA:95699 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... |
ORPHA:1916 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Oligomenorrhea, Irregular menstruation, Delayed puberty, Polycystic ovaries |
ORPHA:370 |
| Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Cryptorchidism, Precocious puberty, Supernumerary nipple |
OMIM:619243 |
| Frasier Syndrome |
|
Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea, Gonadal dysgenesis |
OMIM:136680 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty |
ORPHA:457260 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Infertility, Precocious puberty, Type II diabetes mellitus, External genital hypoplasia, Small pi... |
ORPHA:398069 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
| Mccune-Albright Syndrome |
|
Pituitary adenoma, Precocious puberty, Elevated circulating growth hormone concentration, Hyperth... |
OMIM:174800 |
| Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
| Estrogen Resistance |
|
Hyperinsulinemia, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:615363 |
| Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
| Intellectual Developmental Disorder, Autosomal Recessive 76 |
|
Precocious puberty in females |
OMIM:619931 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Gonadal dysgenesis |
ORPHA:1770 |
| Cowden Syndrome 5 |
|
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Goiter, Thyroid adenoma, Thyroid... |
OMIM:615108 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased testicular size |
OMIM:614858 |
| Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Leydig cell n... |
ORPHA:361 |
| Cowden Syndrome 6 |
|
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Varicocele, Goiter, Thyroid aden... |
OMIM:615109 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism |
OMIM:612702 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty |
ORPHA:254531 |
| Megalencephaly |
|
Long penis, Macroorchidism |
ORPHA:2477 |
| Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Testicular neoplasm, Aplasia/hypoplasia of... |
ORPHA:754 |
| Hyperostosis Frontalis Interna |
|
Increased circulating prolactin concentration, Irregular menstruation, Diabetes mellitus |
OMIM:144800 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Polycystic ovaries, Irregular menstruation, Oligomenorrhea, Dysmenorrhea |
ORPHA:79240 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, D... |
ORPHA:90794 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Decreased testicular size, Micropenis |
ORPHA:335 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Elevated circulating growth hormone concentration, Decreased serum insulin-like growth factor 1, ... |
ORPHA:85327 |
| Ollier Disease |
|
Precocious puberty |
ORPHA:296 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:610628 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy |
OMIM:264270 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Irregular menstruation, Oligomenorrhea, Delayed puberty, Polycystic ovaries |
ORPHA:264580 |
| 17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Precocious puberty |
OMIM:300801 |
| Optic Pathway Glioma |
|
Precocious puberty |
ORPHA:2086 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... |
OMIM:308750 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty |
OMIM:619877 |
| Ovarian Fibroma |
|
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary |
ORPHA:314473 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Abnormality of thalamus morphology, Azoospermia |
OMIM:613724 |
| Silver-Russell Syndrome |
|
Abnormal vagina morphology, Precocious puberty, Abnormality of male external genitalia, Hypospadi... |
ORPHA:813 |
| Cowden Syndrome 1 |
|
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Varicocele, Goiter, Ovarian carc... |
OMIM:158350 |
| Carney Complex |
|
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... |
ORPHA:1359 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty |
OMIM:300958 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Cryptorchidism, Precocious puberty |
ORPHA:96184 |
| Prader-Willi Syndrome |
|
Adrenal insufficiency, Infertility, Precocious puberty, Type II diabetes mellitus, External genit... |
OMIM:176270 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty |
OMIM:619356 |
| Mullerian Aplasia And Hyperandrogenism |
|
Amenorrhea, Abnormality of the endocrine system, Aplasia/Hypoplasia of the fallopian tube, Aplasi... |
OMIM:158330 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Pancreatitis, Dysmenorrhea, Decreased serum leptin, Secondary amenorrhea, Diabetes mellitus, Poly... |
ORPHA:280365 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone level, Central hypothyro... |
OMIM:301033 |
| Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
| Pituitary Adenoma 1, Multiple Types |
|
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... |
OMIM:102200 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Hypoplasia of the ut... |
OMIM:202010 |
| Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation, Reduced circulating prolactin concentration |
OMIM:264110 |
| Interstitial Cystitis |
|
Abnormal vagina morphology, Dyspareunia, Abnormal labia morphology, Abnormality of the urethra, A... |
ORPHA:37202 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Decreased serum testosterone concentration, A... |
ORPHA:325124 |
| 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 |
| Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Hyperinsulinemia, Decreased response to growth hormone stimulation test... |
ORPHA:3464 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
| Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... |
ORPHA:199310 |
| Fragile X Syndrome |
|
Periventricular heterotopia, Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
| Hemochromatosis, Type 2A |
|
Amenorrhea, Hypogonadotropic hypogonadism, Infertility, Azoospermia |
OMIM:602390 |
| Prolactinoma |
|
Impotence, Dyspareunia, Central adrenal insufficiency, Decreased fertility in males, Erectile dys... |
ORPHA:2965 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism |
OMIM:615234 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614839 |
| Hymen, Imperforate |
|
Amenorrhea, Hematocolpos, Imperforate hymen, Hydrocolpos |
OMIM:237100 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Decreased serum leptin, Decreased fertility in females, Acute pancreatitis, Ins... |
OMIM:608594 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian cyst, Pancreatic adenocarcinoma, Endometrial carcinoma |
ORPHA:454840 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... |
OMIM:262600 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Decreased serum leptin, Decreased fertility in femal... |
OMIM:269700 |
| Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Elevated circulating growth hormone concentration, Abnormality of ... |
ORPHA:249 |
| 19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Precocious puberty |
ORPHA:447980 |
| Cystic Echinococcosis |
|
Ovarian cyst, Renal cyst, Abnormality of the testis size, Hepatic cysts |
ORPHA:400 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis |
ORPHA:2183 |
| Peutz-Jeghers Syndrome |
|
Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Neoplasm of the pancreas |
OMIM:175200 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Polycystic ovaries, Premature thelarche, Type I diabetes mellitus, Nodular goiter |
ORPHA:371428 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Immotile sperm |
OMIM:614874 |
| Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Precocious puberty, Diabetic ketoacidosis, Long penis, Hypoth... |
ORPHA:769 |
| Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Primary amenorrhea, Hypothyr... |
ORPHA:95496 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Macroorchidism |
OMIM:300055 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Male pseudohermaphroditism, Primary amenorrhea, Adrenal hyperplasia, Ambiguous genitalia, Adrenog... |
OMIM:202110 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Isosexual precocious puberty |
ORPHA:2788 |
| Basilicata-Akhtar Syndrome |
|
Precocious puberty |
OMIM:301032 |
| Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... |
OMIM:235200 |
| Premature Ovarian Failure 15 |
|
Oligomenorrhea |
OMIM:618096 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Clitoral hypoplasia, Go... |
OMIM:618419 |
| Acquired Generalized Lipodystrophy |
|
Polycystic ovaries, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Acute pancreatitis |
ORPHA:79086 |
| Proteus-Like Syndrome |
|
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland |
ORPHA:2969 |
| 19P13.12 Microdeletion Syndrome |
|
Hypothyroidism, Hypospadias, Cryptorchidism, Precocious puberty |
ORPHA:254346 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Tsh-Secreting Pituitary Adenoma |
|
Impotence, Central adrenal insufficiency, Decreased fertility in males, Increased circulating pro... |
ORPHA:91347 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
| Infantile Systemic Hyalinosis |
|
Polycystic ovaries, Aplasia/Hypoplasia of the thymus, Abnormality of the adrenal glands |
ORPHA:2176 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis |
OMIM:244200 |
| Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis |
ORPHA:722 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
| Lig4 Syndrome |
|
Amenorrhea, Cryptorchidism, Hypothyroidism, Micropenis |
OMIM:606593 |
| Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
| Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... |
OMIM:612650 |
| Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
| Placental Site Trophoblastic Tumor |
|
Amenorrhea, Metrorrhagia |
ORPHA:99928 |
| Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... |
OMIM:613807 |
| Myhre Syndrome |
|
Precocious puberty, External genital hypoplasia, Abnormal penis morphology, Hypospadias, Hypogona... |
ORPHA:2588 |
| Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Absent scrotum, Adrenal hyper... |
OMIM:201810 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Decreased ... |
ORPHA:280679 |
| Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
| Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter, Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:617175 |
| Hemochromatosis, Type 3 |
|
Amenorrhea, Hypogonadotropic hypogonadism, Impotence |
OMIM:604250 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Acute pancreatitis, Insulin-resistant diabetes melli... |
OMIM:151660 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
| Hemochromatosis, Type 2B |
|
Secondary amenorrhea, Hypogonadism |
OMIM:613313 |
| Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... |
ORPHA:90791 |
| Vaginal Atresia |
|
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Primary amenorrhea, Cervicitis, Transvers... |
ORPHA:65681 |
| Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Hyperinsulinemia, Type II diabetes mellitus, Hyperinsulinemic... |
ORPHA:2298 |
| Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Ovarian serous cystadenoma |
ORPHA:276280 |
| Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Abnormal spermatogenesis, Delayed puberty |
ORPHA:90646 |
| Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Primary amenorrhea, Bicornuate uterus |
OMIM:191830 |
| Carpenter Syndrome 1 |
|
Cryptorchidism, Precocious puberty, Patent ductus arteriosus, External genital hypoplasia |
OMIM:201000 |
| Smith-Magenis Syndrome |
|
Hypothyroidism, Precocious puberty, Delayed puberty |
ORPHA:819 |
| Gangliocytoma |
|
Abnormality of the pituitary gland, Amenorrhea, Pituitary null cell adenoma, Elevated circulating... |
ORPHA:251937 |
| Slc35A2-Cdg |
|
Elevated circulating thyroid-stimulating hormone concentration, Precocious puberty |
ORPHA:356961 |
| X-Linked Acrogigantism |
|
Abnormality of the pituitary gland, Decreased thyroid-stimulating hormone level, Adrenocorticotro... |
ORPHA:300373 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Classic Galactosemia |
|
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... |
ORPHA:79239 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Precocious puberty, Rectovaginal fistula |
OMIM:608980 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormality of female external genitalia, Precocious puberty, Patent ductus arteriosus |
ORPHA:2637 |
| Radio-Tartaglia Syndrome |
|
Precocious puberty |
OMIM:619312 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pancreatitis, Irregular menstruation, Menorrhagia, Hypothyroidism, Delayed puberty, Polycystic ov... |
ORPHA:79259 |
| Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, ... |
ORPHA:478 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Delayed puberty, Cryptorchidism |
OMIM:147950 |
| 9P13 Microdeletion Syndrome |
|
Precocious puberty, External genital hypoplasia |
ORPHA:324313 |
| Pituitary Apoplexy |
|
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... |
ORPHA:95613 |
| Pallister-Hall Syndrome |
|
Precocious puberty, Distal urethral duplication, Decreased response to growth hormone stimulation... |
OMIM:146510 |
| Lead Poisoning |
|
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... |
ORPHA:330015 |
| Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Multiple renal cysts, Cervix cancer |
ORPHA:2869 |
| Leopard Syndrome 1 |
|
Hypoplasia of the ovary, Micropenis, Delayed menarche, Hypospadias, Delayed puberty, Cryptorchidi... |
OMIM:151100 |
| Galactosemia |
|
Oligomenorrhea, Primary amenorrhea, Secondary amenorrhea, Cryptorchidism, Decreased serum insulin... |
ORPHA:352 |
| Ring Chromosome 21 Syndrome |
|
Amenorrhea, Azoospermia, Infertility, Diabetes insipidus |
ORPHA:1445 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Hypospadias, Cryptorch... |
ORPHA:96182 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Increased circulating... |
ORPHA:90790 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Azoospermia, Decreased response to growth hormone stimulation tes... |
OMIM:300845 |
| Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm |
OMIM:613808 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Precocious puberty, Micropenis |
ORPHA:96092 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Precocious puberty |
ORPHA:261652 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Primary amenorrhea, Ambiguous genitalia, female, Increased size of the clitoris, Fused labia minora |
ORPHA:2975 |
| Chromosome 17Q12 Deletion Syndrome |
|
Ovarian cyst, Multicystic kidney dysplasia, Renal cyst, Unicornuate uterus, Urethral stenosis, Ap... |
OMIM:614527 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:600955 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Chordee, Labial hypoplasia, Vesicovaginal fistula, Abnormality of the endocrine system, Bifid scr... |
OMIM:201750 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Non-Acquired Panhypopituitarism |
|
Amenorrhea, Ectopic anterior pituitary gland, Infertility, Abnormal prolactin level, Decreased re... |
ORPHA:90695 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Bifid scrotum... |
OMIM:278850 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty |
OMIM:163200 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty |
ORPHA:163681 |
| Angelman Syndrome |
|
Delayed menarche, Precocious puberty in females |
ORPHA:72 |
| Bainbridge-Ropers Syndrome |
|
Cryptorchidism, Precocious puberty, Supernumerary nipple |
OMIM:615485 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Patent duct... |
ORPHA:96191 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Male infertility, Hypogonadism, Abnormal testis morphology, Primary testicular failure |
ORPHA:85450 |
| Adenohypophysitis |
|
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased male libido, Decreased s... |
ORPHA:95512 |
| Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Absent inner and outer dynein arms, Reduced sperm motility |
OMIM:615444 |
| Orofaciodigital Syndrome I |
|
Myelomeningocele, Hypothalamic hamartoma, Ovarian cyst, Hepatic cysts, Polycystic kidney dysplasi... |
OMIM:311200 |
| Panhypophysitis |
|
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased male libido, Decreased s... |
ORPHA:95513 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Female infertility, Premature ovarian insufficiency |
OMIM:619518 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Increased pi... |
ORPHA:90674 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Polymicrogyria, Macroorchidism |
OMIM:618874 |
| Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Absent outer dynein arms, Azoospermia |
OMIM:618300 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis |
ORPHA:2239 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Elevated circulating luteinizing hormone level, Elevated circulating follicle... |
OMIM:617253 |
| Tuberous Sclerosis 1 |
|
Adenoma sebaceum, Renal cyst, Precocious puberty, Hypothyroidism |
OMIM:191100 |
| Richards-Rundle Syndrome |
|
Primary amenorrhea, Absence of secondary sex characteristics, Hypogonadism |
OMIM:245100 |
| Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:721 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypothyroidism, Premature thelarche, Premature pubarche |
OMIM:616878 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism |
ORPHA:324410 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... |
ORPHA:465508 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypospadias, Precocious puberty, Type II diabetes mellitus |
OMIM:210720 |
| Pallister-Hall Syndrome |
|
Central adrenal insufficiency, Hypothalamic hamartoma, Ambiguous genitalia, Thyroid hypoplasia, S... |
ORPHA:672 |
| Pituitary Carcinoma |
|
Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm... |
ORPHA:300385 |
| Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
| Gapo Syndrome |
|
Amenorrhea, Oligospermia, Dysmenorrhea, Hypogonadism |
ORPHA:2067 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Renal cyst, Precocious puberty, Patent ductus arteriosus |
ORPHA:369837 |
| Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Uterus didelphys, Primary amenorrhea, Septate vagina, Aplasia of the uterus, ... |
OMIM:146255 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenal insufficiency, Sex reversal, Hyperaldosteronism, Adrenocorticotropic hormone excess |
OMIM:613743 |
| Histiocytoid Cardiomyopathy |
|
Polycystic ovaries, Renal cyst |
ORPHA:137675 |
| Alexander Disease |
|
Hypothyroidism, Precocious puberty, Hyperhidrosis, Diabetes mellitus |
ORPHA:58 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Irregular menstruation, Supernumerary nipple |
ORPHA:1809 |
| Acrodysostosis |
|
Irregular menstruation, Cryptorchidism, Abnormality of female external genitalia, Hypogonadism |
ORPHA:950 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Urogenital sinus anomaly, Chordee, Streak ovary, Micropenis, Uterus didelphys, Hypospadias, Gonad... |
OMIM:618820 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Hypospadias, Precocious puberty |
OMIM:615877 |
| Bardet-Biedl Syndrome 1 |
|
Nephrogenic diabetes insipidus, Micropenis, Decreased testicular size, Hypogonadism, Vaginal atre... |
OMIM:209900 |
| Tuberous Sclerosis 2 |
|
Adenoma sebaceum, Renal cyst, Precocious puberty, Hypothyroidism |
OMIM:613254 |
| Tay-Sachs Disease |
|
Precocious puberty, Abnormal thalamic MRI signal intensity |
ORPHA:845 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Type I diabetes mellitus |
OMIM:619269 |
