| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... |
OMIM:228300 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
| Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:616030 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, High palate, Decreased testicul... |
OMIM:308700 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... |
OMIM:614841 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, High palate, Hypothalamic gonad... |
OMIM:308750 |
| Isochromosomy Yp |
|
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... |
ORPHA:98797 |
| 46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Primary amenorrhea, Abnormal internal genitalia, Aplasia of the uterus,... |
OMIM:273250 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est... |
ORPHA:168563 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Micropenis, Crypt... |
OMIM:202150 |
| Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... |
ORPHA:98798 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
| Xp22.3 Microdeletion Syndrome |
|
Decreased fertility, Ectopic anus, Secondary amenorrhea, Polycystic ovaries, Hypogonadotropic hyp... |
ORPHA:1643 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
| Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M... |
ORPHA:1646 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
| Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Sparse body hair, Eunuchoi... |
ORPHA:432 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Sparse body hair, Hypogonadism, Small for gestational age, Decreased testicular size, Decreased s... |
OMIM:300869 |
| Delayed Puberty, Self-Limited |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... |
OMIM:619613 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis |
ORPHA:242 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, D... |
ORPHA:163976 |
| 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 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... |
ORPHA:52901 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Decreased serum testosterone... |
ORPHA:163971 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
| 49,Xxxyy Syndrome |
|
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, Decreased tes... |
ORPHA:261534 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Alopeci... |
ORPHA:453533 |
| Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
| Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... |
OMIM:618841 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ... |
ORPHA:90796 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... |
ORPHA:90791 |
| Obesity Due To Congenital Leptin Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... |
ORPHA:66628 |
| Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614839 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... |
OMIM:618086 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... |
ORPHA:179494 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Cryptorchidism... |
OMIM:619761 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Male infertility |
OMIM:617593 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... |
ORPHA:399805 |
| 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 |
| 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 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
| 49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, Decreased testicular size, Externa... |
ORPHA:99330 |
| Rudiger Syndrome |
|
Ureterovesical stenosis, Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
| Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
| Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:612310 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry... |
OMIM:614840 |
| Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hirsutism, Hypergonadotro... |
OMIM:300510 |
| 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 |
| Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... |
ORPHA:529970 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Secondary amenorrhea, Decreased testicular size, Type II diabetes mellitus, Pol... |
ORPHA:3085 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
| Functioning Gonadotropic Adenoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... |
ORPHA:91348 |
| Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
| Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
| Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
| 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 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Urinary incontinence, Urinary retention, Dysuria, Abnormality of the ovary, Polycystic ovaries, H... |
ORPHA:2795 |
| Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
| Premature Ovarian Failure 10 |
|
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... |
OMIM:612885 |
| Ovarian Dysgenesis 7 |
|
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:618117 |
| 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 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, P... |
ORPHA:2232 |
| Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Absent pubic hair, Elevated circulating lu... |
OMIM:612964 |
| Polycystic Ovary Syndrome 1 |
|
Hirsutism, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
| Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
| Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
| Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
| Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
| Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir... |
OMIM:619834 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
| Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Diabetes mellitus, Polyc... |
OMIM:608709 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Müllerian Aplasia And Hyperandrogenism |
|
High anterior hairline, Increased serum testosterone level, Synophrys, Abnormality of the ovary, ... |
ORPHA:247768 |
| Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:615300 |
| 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 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... |
OMIM:617690 |
| Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Sparse axillar... |
ORPHA:99429 |
| Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
| Young Syndrome |
|
Decreased fertility, Abnormality of the pancreas, Obstructive azoospermia |
ORPHA:3471 |
| Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... |
ORPHA:90795 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
| Gonadoblastoma |
|
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
| Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
| Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
| Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
| Perrault Syndrome 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:614129 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head |
OMIM:243060 |
| Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... |
OMIM:615363 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Absence of pubertal development, Hypergonadotropic hypogonadism, Primar... |
OMIM:618078 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia |
OMIM:613571 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Bifid scrotum, Hypoplasia of the vagina, Perineal hypospadias, True hermaphroditism... |
OMIM:278850 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility, Abnormal hair mor... |
ORPHA:3000 |
| Ane Syndrome |
|
Alopecia, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, A... |
ORPHA:157954 |
| Hyperprolactinemia |
|
Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Secondary amenorrhea, Polycystic ovaries, Hypergonadotropic hypogonadism, Insulin-resistant diabe... |
OMIM:268020 |
| Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... |
OMIM:614324 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Androgen Insensitivity Syndrome |
|
Sparse axillary hair, Ambiguous genitalia, male, Sparse pubic hair, Abnormality of the uterus, De... |
ORPHA:754 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Uterus didelphys, Metrorrhagia, Partial vaginal septum, Abnormal uterine cervix morphology, Dyspa... |
ORPHA:3411 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair, Hypogonadism, Abnormality of dental morphology, Hypoplasia of penis, Cryptorchi... |
ORPHA:85274 |
| Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Small for gestational age, Premature ... |
ORPHA:1916 |
| Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... |
OMIM:615723 |
| Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... |
ORPHA:3464 |
| Bardet-Biedl Syndrome 6 |
|
External genital hypoplasia, Renal cyst, Diabetes mellitus, Vaginal atresia, Hypospadias, Obesity |
OMIM:605231 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... |
OMIM:300200 |
| Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
| Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... |
ORPHA:1772 |
| 46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Abnormality of secondary sexual hair, Ambiguous genitalia, Decreased serum e... |
ORPHA:243 |
| Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... |
OMIM:615724 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Polycystic ovaries, Hyperinsulinemia |
ORPHA:79084 |
| 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 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Weight loss, Infertility, Hepatocellular carcinoma, Cholangiocarcinoma... |
ORPHA:465508 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
| Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
| Aarskog-Scott Syndrome |
|
Cleft upper lip, Shawl scrotum, Hypodontia, Bilateral cryptorchidism, Widow's peak, Decreased ser... |
OMIM:305400 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Azoospermia, Sparse facial hair, Absent facial hair, Hypergonadotropic hypog... |
ORPHA:2183 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Infertility, Azoospermia, Hepatic steatosis, Oligospermia, Obesity |
OMIM:615703 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, Dental malocclusion, Decreased serum estradiol, Selective tooth agenesis, Small for ges... |
ORPHA:2959 |
| Frasier Syndrome |
|
Gonadoblastoma, Renal insufficiency, Decreased serum estradiol, Nephrotic syndrome, Ambiguous gen... |
ORPHA:347 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Decreased testicular size, Sparse axillary hair, Infertility, Sparse pubic hair, Cryptorchidism, ... |
OMIM:146110 |
| Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Ambiguous genitalia, Adrenal hyperplasia, Male pseudohermaphroditism, Pri... |
OMIM:202110 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Ambiguous genitalia, Absent scrotum, Elevated circulating 17-hydroxyprogesterone concentration, S... |
OMIM:201810 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular si... |
OMIM:241080 |
| 46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries, Fine hair |
ORPHA:2228 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Irregular menstruation, Alopecia, Precocious puberty, Hyperthyroidism, Abnormal testis morphology... |
ORPHA:457059 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hypogonadism, Decreased testicular size, Failure to thrive, Alopecia of scalp, Hypogeusia, Hepato... |
OMIM:201100 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
| Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Absence of secondar... |
ORPHA:785 |
| 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 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... |
ORPHA:79085 |
| Satoyoshi Syndrome |
|
Sparse or absent eyelashes, Abnormality of the ovary, Alopecia universalis, Abnormality of the ut... |
ORPHA:3130 |
| Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormal testis morphology, Incr... |
ORPHA:1227 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Primary amenorrhea, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Polycystic ov... |
OMIM:604367 |
| Polyembryoma |
|
Irregular menstruation, Macroorchidism, Isosexual precocious puberty, Increased serum testosteron... |
ORPHA:180229 |
| Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
| Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries, Hirsutism, Insulin-resistant di... |
ORPHA:90301 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Adrenogenital syndrome, Renal salt wasting, Hypospadias, Congenital adrenal hyperplasia |
OMIM:201710 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
| Hemochromatosis, Type 2A |
|
Cirrhosis, Infertility, Azoospermia, Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, A... |
OMIM:602390 |
| Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
| Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Low anterior hairline, Oligomenorrhea, Macroglos... |
ORPHA:528 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Ambiguous genitalia, Abnormality of thyroid physiology, Microphallus, Perineal hypospadias, Corpu... |
OMIM:615542 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... |
ORPHA:289548 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... |
OMIM:202010 |
| Preeclampsia |
|
Acute kidney injury, Type I diabetes mellitus, Polycystic ovaries, Proteinuria, Chronic kidney di... |
ORPHA:275555 |
| 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 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Nephrolithiasis, Obstructive azoospermia |
OMIM:301060 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea |
OMIM:300604 |
| Distal Monosomy 10P |
|
Ectopic anus, Hypoplasia of penis, Anal atresia, Polycystic ovaries, Cryptorchidism, Cleft palate |
ORPHA:1580 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Abnormality of female external genitalia, Increased circulating ACTH level, Decre... |
ORPHA:90790 |
| Ataxia-Telangiectasia |
|
Abnormal testis morphology, Premature graying of hair, Aplasia/Hypoplasia of the thymus, Type II ... |
ORPHA:100 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... |
ORPHA:168558 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Gonadoblastoma, Renal insufficiency, Abnormality of the uterus, Hypospadias, Nephropathy, Cryptor... |
OMIM:194072 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... |
ORPHA:786 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Decreased testicular size, Breast aplasia, Eunuchoid habitus, Type I diabetes mellitus, Sparse pu... |
ORPHA:3044 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... |
ORPHA:261519 |
| 48,Xyyy Syndrome |
|
Primary gonadal insufficiency, Enamel hypoplasia, High palate, Long philtrum, Thick lower lip ver... |
ORPHA:99329 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal... |
ORPHA:2235 |
| 48,Xxyy Syndrome |
|
Delayed eruption of teeth, Decreased testicular size, Type II diabetes mellitus, Infertility, Tau... |
ORPHA:10 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... |
ORPHA:435651 |
| 46,Xy Sex Reversal 1 |
|
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... |
OMIM:400044 |
| 47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Azoospermia, Increased circulating gonadotrop... |
ORPHA:8 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... |
ORPHA:226307 |
| Bardet-Biedl Syndrome |
|
Hepatic fibrosis, Medial flaring of the eyebrow, Multicystic kidney dysplasia, Hypogonadism, Neph... |
ORPHA:110 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Abnormal labia majora morphology, Decreased serum leptin, Polycystic ovaries, Decreased adiponect... |
ORPHA:435660 |
| Meningioma |
|
Enlarged pituitary gland, Impotence, Decreased circulating cortisol level, Secondary growth hormo... |
ORPHA:2495 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Hemochromatosis, Type 1 |
|
Alopecia, Cirrhosis, Impotence, Azoospermia, Hepatocellular carcinoma, Elevated hepatic transamin... |
OMIM:235200 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the vagina, Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the u... |
OMIM:158330 |
| Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... |
OMIM:312300 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Bicornuate uterus, Azoospermia, Ectopic kidney, Low posterior hairline, Aplasia/hypoplasia of the... |
ORPHA:2578 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Decreased serum leptin, Primary amenorrhea, Obesity, Mic... |
OMIM:614962 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Renal salt wasting, Hypospadias, Adrenal hyperplasia |
OMIM:201910 |
| Congenital Factor Vii Deficiency |
|
Ovarian cyst, Menorrhagia |
ORPHA:327 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Bicornuate uterus, Azoospermia, Unilateral renal agenesis, Ectopic kidney, Cleft... |
OMIM:601076 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... |
OMIM:619755 |
| Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
| Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus |
ORPHA:481 |
| Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Macroceph... |
OMIM:619177 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Cleft upper lip, Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperpl... |
ORPHA:96181 |
| Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Gordon Holmes Syndrome |
|
Primary amenorrhea, Secondary amenorrhea, Absence of pubertal development, Oligomenorrhea, Hypogo... |
OMIM:212840 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Irregular menstruation, Alopecia, Increased circulating cortisol level, Type II diabetes mellitus... |
ORPHA:189439 |
| Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, High palate, Hypogonadism, High, narrow palate, Decreased testicular size, Hypo... |
OMIM:209900 |
| Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Weight loss, ... |
ORPHA:361 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Long philtrum, Premature graying of hair, ... |
ORPHA:280679 |
| Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Decreased body weight, Hyperinsulinemic hypoglycemia, Hirsutism, Fasting hyper... |
ORPHA:2298 |
| Amed Syndrome, Digenic |
|
Failure to thrive, Hypoplasia of the uterus, Adrenal hypoplasia |
OMIM:619151 |
| Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Uterine leiomyoma, Adenomat... |
OMIM:617100 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Precocious puberty, Infertility, Hirsutism, Oligomenorrhea |
OMIM:604931 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... |
ORPHA:90794 |
| Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Vaginal atresia, Obesity, Hy... |
OMIM:615989 |
| Seckel Syndrome 7 |
|
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614851 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Mccune-Albright Syndrome |
|
Decreased fertility, Macroorchidism, Increased circulating prolactin concentration, Precocious pu... |
ORPHA:562 |
| Non-Functioning Pituitary Adenoma |
|
Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido, Increased ci... |
ORPHA:91349 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233300 |
| 46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
| 46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
| Androgen Insensitivity Syndrome |
|
Sparse axillary hair, Labial hypoplasia, Sparse pubic hair, Absent facial hair, Blind vagina, Ele... |
OMIM:300068 |
| Aromatase Deficiency |
|
Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes me... |
ORPHA:91 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Primary amenorrhea, Secondary amenorrhea, Maternal diabetes, Diabetes mellitus, Polycystic ovarie... |
ORPHA:79083 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
| 46,Xy Sex Reversal 4 |
|
Hydronephrosis, High palate, Long philtrum, Sex reversal, Hypoplastic labia majora, Agonadism, An... |
OMIM:154230 |
| 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypothyroidism, Ambiguous genitalia, Infertility, Male pseudohermaphroditism, Cryptorchidism, Hyp... |
ORPHA:752 |
| Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism |
OMIM:614858 |
| Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Splenomegaly, Hepatic failure, High palate, Hepatosplenomegal... |
ORPHA:1655 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Long philtrum, Premature graying of hair, ... |
OMIM:300845 |
| Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, High anterior hairline, High palate, Polycystic ovaries, Sparse hair |
ORPHA:284180 |
| Panhypophysitis |
|
Abnormal size of pituitary gland, Increased circulating prolactin concentration, Gonadotropin def... |
ORPHA:95513 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| 46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Perineal hypospadias, Bifid s... |
ORPHA:753 |
| Donohue Syndrome |
|
Hyperinsulinemia, Precocious puberty, Long penis, Pancreatic islet-cell hyperplasia, Ovarian cyst... |
OMIM:246200 |
| Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... |
ORPHA:95699 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Premature ovarian insufficiency, Decreased serum testosterone concentration |
ORPHA:101006 |
| 46,Xx Sex Reversal 5 |
|
Urogenital sinus anomaly, Ambiguous genitalia, Increased serum testosterone level |
OMIM:618901 |
| Cowden Syndrome 6 |
|
Hypothyroidism, High palate, Colonic diverticula, Hyperthyroidism, Thyroiditis, Hydrocele testis,... |
OMIM:615109 |
| Renal Hypodysplasia/Aplasia 1 |
|
Primary amenorrhea, Vaginal atresia, Proteinuria, Bicornuate uterus |
OMIM:191830 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad... |
OMIM:610475 |
| Cowden Syndrome 5 |
|
Hypothyroidism, High palate, Colonic diverticula, Hyperthyroidism, Thyroiditis, Hydrocele testis,... |
OMIM:615108 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Secondary amenorrhea, Diabetes mellitus, Polycystic ovaries, Dysmenorrhea, Generalized hirsutism |
ORPHA:2348 |
| 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 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, High palate, Premature ovarian insufficiency, Sparse pubic hair, Increase... |
OMIM:110100 |
| Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... |
ORPHA:65681 |
| Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, High anterior hairline, Polycystic ovaries, Hirsutism |
OMIM:616831 |
| Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Bifid tongue, Hypoplastic labia majora, Gingival ove... |
ORPHA:97360 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa... |
ORPHA:64739 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... |
OMIM:613986 |
| Congenital Fibrinogen Deficiency |
|
Decreased testicular size, Hemorrhagic ovarian cyst, Volvulus, Micropenis |
ORPHA:335 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism, Infertility, Male pseudohermaphroditism, Female external genitalia in individual ... |
OMIM:264300 |
| 48,Xxxy Syndrome |
|
Hypogonadism, Delayed eruption of teeth, Decreased testicular size, Type II diabetes mellitus, In... |
ORPHA:96263 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Secondary ame... |
ORPHA:572333 |
| Satoyoshi Syndrome |
|
Alopecia, Malabsorption, Alopecia universalis, Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Abnormality of the ureter, Abnormal hair pattern, Gonadal dysgenesis, Cleft p... |
ORPHA:1770 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
| Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:619938 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
| Tetragametic Chimerism |
|
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... |
ORPHA:199310 |
| Primary Lipodystrophy |
|
Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia |
ORPHA:90970 |
| Ring Chromosome 21 Syndrome |
|
Diabetes insipidus, Infertility, Azoospermia, Amenorrhea |
ORPHA:1445 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Sex reversal, Adrenal gland agenesis, Hypospadias, Ovotestis, Cleft lip, Cleft palate |
OMIM:611812 |
| Cowden Syndrome 1 |
|
Hypothyroidism, Colonic diverticula, High palate, Hyperthyroidism, Thyroiditis, Hydrocele testis,... |
OMIM:158350 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia, Hepatomegaly, Elevated hepatic iron concentration, Splenomegaly |
OMIM:615234 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:98754 |
| Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia |
OMIM:267400 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co... |
OMIM:250790 |
| Meckel Syndrome 12 |
|
Bifid uvula, Ureteral hypoplasia, Vaginal atresia, Renal hypoplasia, Hypoplasia of the uterus |
OMIM:616258 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Polycystic kidney dysplasia, Unilateral renal agenesis, Diabetes mellitus,... |
ORPHA:2237 |
| Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
| Acromesomelic Dysplasia 3 |
|
Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Primary amenorrhe... |
OMIM:609441 |
| Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Hypogona... |
OMIM:240950 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, High palate, Small for gestational age, Diabetic ketoacidos... |
OMIM:262190 |
| Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... |
ORPHA:254516 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Sparse eyebrow, Absent scrotum, Long philtrum, Absence of labia majora, Synophrys, Broad eyebrow,... |
ORPHA:495875 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Diabetes mellitus, Absence of pubertal development... |
OMIM:610628 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:177901 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:98793 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Nephrocalcinosis, Hematuria, Distal renal tubular acidosis, Proximal renal tu... |
OMIM:146255 |
| 49,Xxxxy Syndrome |
|
Hypogonadism, Delayed eruption of teeth, Decreased testicular size, Type II diabetes mellitus, In... |
ORPHA:96264 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Renal... |
OMIM:614736 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Sparse eyebrow, Long philtrum, Small for gestational age, Frontal upsweep of hair, Hypodontia, Py... |
OMIM:618419 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:177904 |
| Meacham Syndrome |
|
Patent ductus arteriosus, Abnormal fallopian tube morphology, Ambiguous genitalia, Crossed fused ... |
ORPHA:3097 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Biliary tract abnormality, Nephrolithiasis, Hypoplasia of the uter... |
OMIM:137920 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Vaginal atresia, Renal hypoplasia, Hypoplasia of the uterus |
OMIM:617914 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Decreased fertility, Absence of secondary sex characteristics, Increased circulating gonadotropin... |
ORPHA:2410 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus |
OMIM:277000 |
| Frasier Syndrome |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Male pseudohermaphroditism, Gonadal dysgenesi... |
OMIM:136680 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Decreased fertility, Sparse body hair, Hypogonadism, Decreased testicular size, Type II diabetes ... |
ORPHA:2234 |
| Boucher-Neuhauser Syndrome |
|
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration |
OMIM:215470 |
| Temple Syndrome |
|
Precocious puberty, High palate, Small for gestational age, Decreased testicular size, Bifid uvul... |
OMIM:616222 |
| Carney Complex |
|
Precocious puberty, Esophageal neoplasm, Neoplasm of the pancreas, Oligospermia, Follicular thyro... |
ORPHA:1359 |
| Diencephalic Syndrome |
|
Decreased body weight, Cachexia, Long penis, Everted lower lip vermilion, Abnormality of the hypo... |
ORPHA:1672 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Sparse scalp hair, Decreased response to growth hormone stimulation test, High palate, Delayed er... |
OMIM:615866 |
| 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 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Anal atresia, Vaginal atresia, Narrow mouth, Cryptorchidism, Orofac... |
ORPHA:3301 |
| 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 |
| 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 |
| Crandall Syndrome |
|
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Hypogonadism, Abnormal... |
ORPHA:202 |
| 8P11.2 Deletion Syndrome |
|
Patent ductus arteriosus, High palate, Hypogonadism, Hypoplasia of penis, Azoospermia, Cryptorchi... |
ORPHA:251066 |
| Central Precocious Puberty |
|
Isosexual precocious puberty, Abnormality of secondary sexual hair, Premature thelarche, Increase... |
ORPHA:759 |
| Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Precocious puberty, Premature graying of hair, Long penis, Hirsutism, Furrowed to... |
ORPHA:769 |
| Post-Traumatic Pituitary Deficiency |
|
Abnormality of secondary sexual hair, Decreased response to growth hormone stimulation test, Decr... |
ORPHA:95619 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
High palate, Small pituitary gland, Delayed puberty, Cryptorchidism, Cleft lip, Primary amenorrhe... |
OMIM:612702 |
| Peutz-Jeghers Syndrome |
|
Intussusception, Uterine neoplasm, Multiple gastric polyps, Neoplasm of the pancreas, Abnormality... |
OMIM:175200 |
| Burkitt Lymphoma |
|
Abnormality of the pancreas, Abnormality of the liver, Abnormality of the ovary, Neoplasm of the ... |
ORPHA:543 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Irregular menstruation, Alopecia, Hyperaldosteronism, Increased circulating cortisol level, Macro... |
ORPHA:189427 |
| H Syndrome |
|
Alopecia, Cleft upper lip, Abnormal eyebrow morphology, Hypogonadism, Decreased testicular size, ... |
ORPHA:168569 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ... |
ORPHA:398079 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Duodenal adenocarcinoma, Neoplasm of the rectum, Colon cancer, Ovarian... |
ORPHA:454840 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Renal tubular acidosis, Polycystic ovaries, Delayed puberty, Oligomenorrh... |
ORPHA:370 |
| Hypomelia With Mullerian Duct Anomalies |
|
Longitudinal vaginal septum, Uterus didelphys |
OMIM:146160 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, High palate, Small for gestational age, Pyloric stenosis, Bifid uvula, Short ... |
ORPHA:96184 |
| Isolated Splenogonadal Fusion |
|
Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Bilateral cryptorchi... |
ORPHA:457083 |
| Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
| Tetraamelia Syndrome 1 |
|
Urethral atresia, Asplenia, Cleft upper lip, Adrenal gland agenesis, Absent external genitalia, A... |
OMIM:273395 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Selective tooth agenesis, Fair hair, Microdontia, Sparse eyelashes, Cleft palate, Vesicoureteral ... |
OMIM:604292 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Azoospermia, Elevated hepatic transaminase, ... |
ORPHA:300298 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea |
OMIM:264270 |
| Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydrometrocolpos, Transverse vaginal septum, Polycystic kidne... |
OMIM:236700 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Small pituitary gland, Cryptorchidism, Cleft palat... |
OMIM:614880 |
| Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Gonadal calcification, Abnormality of the ovary, Peritonitis,... |
ORPHA:314473 |
| Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue, Hepatic am... |
ORPHA:314652 |
| Interstitial Cystitis |
|
Pollakisuria, Urinary urgency, Abnormality of the menstrual cycle, Abnormal labia morphology, Noc... |
ORPHA:37202 |
| Igg4-Related Submandibular Gland Disease |
|
Sialadenitis, Renal insufficiency, Prostatitis, Retroperitoneal fibrosis, Cholangitis, Abnormalit... |
ORPHA:449432 |
| Pituitary Stalk Interruption Syndrome |
|
Primary amenorrhea, Hypothyroidism, Diabetes insipidus, Hypoplasia of penis, Ectopic posterior pi... |
ORPHA:95496 |
| Duplication Of Urethra |
|
Vesicoureteral reflux, Anal fistula, Penile hypospadias, Urinary incontinence, Anuria, Bifid scro... |
ORPHA:237 |
| Galactosemia |
|
Decreased fertility, Cirrhosis, Hepatic failure, Secondary amenorrhea, Premature ovarian insuffic... |
ORPHA:352 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Urinary urgency, Decreased serum testosterone concentration |
OMIM:609195 |
| Cystic Echinococcosis |
|
Abnormality of the testis size, Renal cyst, Hepatic cysts, Ovarian cyst, Membranous nephropathy |
ORPHA:400 |
| 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 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Selective tooth agenesis, Fair hair, Microdontia, Sparse eyelashes, Cleft palate, Sparse hair, Ve... |
OMIM:129900 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Renal tubular acidosis, Polycystic ovaries, Delayed puberty, Oligomenorrh... |
ORPHA:264580 |
| Kallmann Syndrome |
|
Primary amenorrhea, Decreased fertility, Anterior hypopituitarism, Decreased testicular size, Hyp... |
ORPHA:478 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h... |
ORPHA:91354 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Renal tubular acidosis, Polycystic ovaries, Oligomenorrhea, Dysmenorrhea,... |
ORPHA:79240 |
| Denys-Drash Syndrome |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, fema... |
OMIM:194080 |
| Camptobrachydactyly |
|
Septate vagina |
ORPHA:1319 |
| Popliteal Pterygium Syndrome |
|
Fibrous syngnathia, Cleft upper lip, Lower lip pit, Hypoplasia of the vagina, Bifid scrotum, Bifi... |
OMIM:119500 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, High palate, Hypogonadism, Synophrys, Short philtrum, Unilateral renal agenes... |
ORPHA:3306 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le... |
OMIM:201750 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Hirsutism, Premature pubarche, Secondary amenorrhea |
OMIM:612847 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal ... |
ORPHA:3453 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, High palate, Short philtrum, Maturity-onset diabetes of the young, Obesity |
ORPHA:254531 |
| Mckusick-Kaufman Syndrome |
|
Urogenital sinus anomaly, Patent ductus arteriosus, Multicystic kidney dysplasia, High palate, Ec... |
ORPHA:2473 |
| Steinert Myotonic Dystrophy |
|
Impotence, Elevated hepatic transaminase, Secondary hyperparathyroidism, Ovarian carcinoma, Non-m... |
ORPHA:273 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Rectovaginal fistula, Perineal fistula, Anal atresia, Rectal atresia |
ORPHA:3016 |
| Ciliary Dyskinesia, Primary, 40 |
|
Patent ductus arteriosus, Infertility, Absent outer dynein arms, Azoospermia |
OMIM:618300 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Increased circulating cortisol level, Adrenal hyperplasia, Diabetes mellitus, Primary h... |
OMIM:615830 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Premature graying of hair, Secondary amenorrhea, Decreased serum leptin, Polycystic ovaries, Decr... |
ORPHA:280365 |
| Silver-Russell Syndrome |
|
Precocious puberty, Decreased testicular size, Cachexia, Abnormal vagina morphology, Hypospadias,... |
ORPHA:813 |
| Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology |
ORPHA:1221 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Decreased fertility in females, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty,... |
OMIM:608594 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unicornuate uterus, Sparse eyebrow, Multicystic kidney dysplasia, High palate, Stage 5 chronic ki... |
OMIM:614527 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Nodular goiter, Type I diabetes mellitus, Polycystic ovaries, Hirsutism |
ORPHA:371428 |
| Camptobrachydactyly |
|
Urinary incontinence, Septate vagina |
OMIM:114150 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:219080 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Precocious puberty, Medial flaring of the eyebrow, Widely-spaced incisors, Synophrys, Short philt... |
OMIM:300801 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased serum estradiol, Decreased testicular size, Hypergonadotropic hypogonadism, Primary ame... |
OMIM:604168 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Downturned corners of mouth, Obesity |
ORPHA:254525 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cleft upper lip, Unilateral renal agenesis, Cryptorchidism, Primary amenorrhea, Hypogonadotropic ... |
OMIM:244200 |
| Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Small for gestational age, Esophageal atresia, Androgen insufficiency, Urethral di... |
ORPHA:95706 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Long philtrum, Vaginal atresia, Hypoplastic labia majora, Fused labia minora |
OMIM:207410 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased fertility, Decreased fertility in females, Hyperinsulinemia, Insulin-resistant diabetes... |
OMIM:269700 |
| Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Stomach cancer, Enlarged polycystic ovaries, Esophageal neoplasm, Neop... |
ORPHA:2869 |
| Lig4 Syndrome |
|
Hypothyroidism, Failure to thrive, Cryptorchidism, Micropenis, Amenorrhea |
OMIM:606593 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Premature pubarche, Cryptorchidism |
ORPHA:457205 |
| Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
| Hereditary Breast And Ovarian Cancer Syndrome |
|
Abnormal fallopian tube morphology, Neoplasm of the pancreas, Prostate cancer, Ovarian neoplasm |
ORPHA:145 |
| Short Syndrome |
|
Ovarian cyst, Insulin-resistant diabetes mellitus |
OMIM:269880 |
| Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Anal atresia, Supernumerary nipple, Thin upper lip vermilion, Cryptorchidism |
OMIM:619243 |
| Caudal Duplication |
|
Intestinal duplication, Cryptorchidism, Uterus didelphys, Ureteral duplication, Abnormal penis mo... |
ORPHA:1756 |
| Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ... |
OMIM:266810 |
| Infantile Systemic Hyalinosis |
|
Malabsorption, Aplasia/Hypoplasia of the thymus, Steatorrhea, Polycystic ovaries, Abnormality of ... |
ORPHA:2176 |
| Fraser Syndrome |
|
Ambiguous genitalia, Bifid tongue, Ectopic anus, Female pseudohermaphroditism, Abnormal hair patt... |
ORPHA:2052 |
| Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Polycystic ovaries, Insulin-resistant diabetes mellitus, Proteinuria, Generaliz... |
ORPHA:79086 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
| Megalencephaly |
|
Macroorchidism, Long penis, Truncal obesity |
ORPHA:2477 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
| Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
| Prolactinoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormone deficiency... |
ORPHA:2965 |
| Serkal Syndrome |
|
Malrotation of small bowel, Sex reversal, Hypospadias, Orofacial cleft, Abnormality of the adrena... |
ORPHA:139466 |
| Premature Ovarian Failure 1 |
|
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:311360 |
| Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Bicornuate uterus, Multilobulated spleen, Hypoplasia of the uterus, Pel... |
OMIM:601186 |
| Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Hyperthyroidism, Increased circulating cortisol level, Thyroid car... |
ORPHA:249 |
| Pituitary Gigantism |
|
Increased circulating prolactin concentration, Type II diabetes mellitus, Increased circulating i... |
ORPHA:99725 |
| Melioidosis |
|
Prostatitis, Abnormal parotid gland morphology, Hepatitis, Liver abscess, Parotitis, Abnormality ... |
ORPHA:31202 |
| Ulnar-Mammary Syndrome |
|
Anterior pituitary hypoplasia, Imperforate hymen, Sparse lateral eyebrow, Shawl scrotum, Bicornua... |
OMIM:181450 |
| Al Amyloidosis |
|
Abnormality of the liver, Weight loss, Nephrotic syndrome, Macroglossia, Abnormal salivary gland ... |
ORPHA:85443 |
| Classic Galactosemia |
|
Decreased fertility in females, Secondary amenorrhea, Premature ovarian insufficiency, Oligomenor... |
ORPHA:79239 |
| Bloom Syndrome |
|
Decreased fertility in females, Agenesis of maxillary lateral incisor, Small for gestational age,... |
OMIM:210900 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Cleft soft palate, Decreased testicular size, Hepatic steatosis, Hypoplasia of the ovar... |
OMIM:619321 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
| Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:103900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Cleft upper lip, Precocious puberty, Decreased body weight, Bifid uvula, Cleft palate |
OMIM:300958 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty, Orofacial cleft |
ORPHA:457260 |
| Proteus-Like Syndrome |
|
Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia |
ORPHA:2969 |
| Woolly Hair Nevus |
|
Precocious puberty, Patchy hypopigmentation of hair, Curly hair, Widely-spaced incisors, Congenit... |
ORPHA:79414 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Anal atresia, Anteriorly placed anus, Hypospadias, Hypoplasia of the uterus, Colonic atresia, Ovo... |
OMIM:309801 |
| 46,Xy Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormality of the clitoris, Ambiguous genitalia, Gonadoblastoma, Bifid... |
ORPHA:325345 |
| Familial Hyperaldosteronism Type I |
|
Secretory adrenocortical adenoma, Abnormal circulating renin, Dexamethasone-suppressible primary ... |
ORPHA:403 |
| Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Adrenal hyperp... |
ORPHA:404 |
| Hand-Foot-Genital Syndrome |
|
Vesicoureteral reflux, Bifid scrotum, Pyelonephritis, Hypospadias, Ureteropelvic junction obstruc... |
OMIM:140000 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Enlarged kidney, Hydrocele testis, Ovarian serous cystadenoma |
ORPHA:276280 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ... |
ORPHA:398069 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Adrenal hyperplasia, Pa... |
ORPHA:99889 |
| Precocious Puberty, Central, 1 |
|
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... |
OMIM:176400 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Frontal balding, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... |
OMIM:618096 |
| Ovarian Dysgenesis 8 |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplastic labia ma... |
OMIM:618187 |
| Brooke-Spiegler Syndrome |
|
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... |
ORPHA:79493 |
| Congenital Primary Megaureter |
|
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Abnormal penis morphology, Nephroli... |
ORPHA:617 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Precocious puberty, Wide mouth, Widely spaced teeth |
OMIM:619877 |
| Hydrolethalus Syndrome 1 |
|
Median cleft lip, Abnormal vagina morphology, Bifid uterus, Hypospadias, Adrenal gland dysgenesis... |
OMIM:236680 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Intestinal malrotation, Testicular atrophy |
OMIM:601163 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Weight loss, Neoplasm of the pancreas, Jaundice, Neoplasm of the scrotum, Met... |
ORPHA:370348 |
| Adrenocortical Carcinoma |
|
Elevated serum 11-deoxycortisol, Increased serum estradiol, Hyperaldosteronism, Increased urinary... |
ORPHA:1501 |
| Muir-Torre Syndrome |
|
Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the liver, Colon cancer, Salivary gland ne... |
ORPHA:587 |
| Apert Syndrome |
|
Dental malocclusion, Narrow palate, Ectopic anus, Delayed eruption of teeth, Esophageal atresia, ... |
OMIM:101200 |
| Septopreoptic Holoprosencephaly |
|
Anterior hypopituitarism, Central diabetes insipidus, Precocious puberty, Anteriorly placed anus |
ORPHA:280195 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Patent ductus arteriosus, Splenomegaly, Decreased response to growth hormo... |
OMIM:602782 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Labial pseudohypertrophy, Type II diabetes mellitus, Polycystic ovaries, Hirsut... |
OMIM:151660 |
| X-Linked Intellectual Disability, Snyder Type |
|
Sparse eyebrow, High palate, Synophrys, Ectopic kidney, Testicular atrophy, Abnormality of the Le... |
ORPHA:3063 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism, Nail dystrophy, Oral leukoplakia |
OMIM:618165 |
| Fraser Syndrome 1 |
|
Difficulty in tongue movements, Cleft upper lip, Abnormal small intestine morphology, Dental malo... |
OMIM:219000 |
| Chand Syndrome |
|
Imperforate hymen, Bifid tongue, Curly hair, Hydroureter, Commissural lip pit, Abnormal oral fren... |
ORPHA:1401 |
| Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating ... |
ORPHA:251274 |
| Leopard Syndrome 1 |
