| Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
| Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
| Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Partial Chromosome Y Deletion |
|
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:619689 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... |
OMIM:300510 |
| Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... |
OMIM:619665 |
| Spermatogenic Failure 65 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... |
OMIM:619712 |
| Spermatogenic Failure 84 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:620409 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... |
ORPHA:90796 |
| Spermatogenic Failure 56 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:619515 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... |
ORPHA:168563 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... |
OMIM:301059 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... |
OMIM:614841 |
| Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
| Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... |
OMIM:618078 |
| Spermatogenic Failure 40 |
|
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Endometriosis, Susceptibility To, 1 |
|
Dysmenorrhea, Decreased fertility, Endometriosis |
OMIM:131200 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... |
OMIM:620084 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... |
OMIM:619585 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... |
OMIM:614837 |
| Ovarian Dysgenesis 7 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... |
OMIM:618117 |
| Spermatogenic Failure 47 |
|
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
| Spermatogenic Failure 39 |
|
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... |
OMIM:618643 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella |
OMIM:620196 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:614822 |
| Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... |
OMIM:612964 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... |
OMIM:619177 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligozoospermia, Male infertility |
OMIM:258150 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:612997 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility |
OMIM:618670 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
| Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... |
ORPHA:98797 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... |
OMIM:614840 |
| Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... |
OMIM:617690 |
| Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... |
OMIM:612885 |
| Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
| Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... |
OMIM:619834 |
| Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... |
OMIM:611548 |
| Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:614129 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia |
ORPHA:397685 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:619828 |
| Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... |
OMIM:615300 |
| Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... |
OMIM:617442 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... |
OMIM:278850 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Primary amenorrhea, Hypergonadotropic hypogonadism, Gonadal dysgenesis |
OMIM:607080 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... |
OMIM:618841 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... |
ORPHA:432 |
| Isochromosomy Yq |
|
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar... |
ORPHA:98798 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... |
OMIM:620311 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... |
ORPHA:3109 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... |
OMIM:615723 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
| Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
| Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... |
OMIM:620103 |
| Estrogen Resistance |
|
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... |
OMIM:615363 |
| Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... |
ORPHA:3130 |
| 46,Xx Gonadal Dysgenesis |
|
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... |
ORPHA:243 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... |
ORPHA:3411 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility |
ORPHA:3000 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
| 46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... |
OMIM:273250 |
| Premature Ovarian Failure 9 |
|
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... |
OMIM:615724 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
| Spermatogenic Failure 8 |
|
Cryptozoospermia, Azoospermia, Oligozoospermia |
OMIM:613957 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
| Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:91348 |
| Hydatidiform Mole |
|
Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
| Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... |
OMIM:108420 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... |
ORPHA:247768 |
| Gordon Holmes Syndrome |
|
Absence of pubertal development, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhe... |
OMIM:212840 |
| Frasier Syndrome |
|
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... |
ORPHA:347 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea |
OMIM:614851 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... |
OMIM:614842 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... |
ORPHA:785 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... |
OMIM:146110 |
| 46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
| Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia |
OMIM:615703 |
| Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... |
ORPHA:137686 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level |
OMIM:619009 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... |
ORPHA:755 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... |
ORPHA:314478 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
| Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
| Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... |
OMIM:618433 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... |
ORPHA:2235 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,... |
ORPHA:280356 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
| 46,Xy Sex Reversal 1 |
|
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... |
OMIM:400044 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Primary amenorrhea, Micropenis, Decreased serum leptin |
OMIM:614962 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... |
ORPHA:99429 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... |
OMIM:229070 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
| Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration |
OMIM:615555 |
| Perrault Syndrome 5 |
|
Primary amenorrhea, Hypergonadotropic hypogonadism, Gonadal dysgenesis |
OMIM:616138 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis |
OMIM:233300 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... |
ORPHA:90797 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
| Ciliary Dyskinesia, Primary, 51 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:620438 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocytic anemia, Elevated circulatin... |
OMIM:620501 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... |
ORPHA:2232 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Infertility, Oligomenorrhea |
OMIM:604931 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
| Pituicytoma |
|
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... |
ORPHA:251623 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
| Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce... |
OMIM:158330 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... |
OMIM:300200 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... |
OMIM:614897 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia |
ORPHA:2795 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... |
OMIM:194072 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... |
OMIM:616030 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea |
OMIM:614858 |
| Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:300068 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polycysti... |
ORPHA:3085 |
| Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Panhypopituitar... |
ORPHA:95619 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Transie... |
ORPHA:99886 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... |
ORPHA:2410 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... |
ORPHA:3464 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... |
OMIM:110100 |
| Beta-Thalassemia |
|
Cholelithiasis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic hypogonadi... |
ORPHA:848 |
| Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... |
OMIM:616950 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... |
OMIM:240900 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| Gestational Choriocarcinoma |
|
Metrorrhagia |
ORPHA:99926 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea |
OMIM:300604 |
| Hemochromatosis, Type 2A |
|
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Infertility |
OMIM:602390 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... |
OMIM:619326 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:610628 |
| Acromesomelic Dysplasia 3 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:609441 |
| Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... |
OMIM:232700 |
| Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... |
OMIM:241080 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:619245 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea |
OMIM:613546 |
| 47,Xyy Syndrome |
|
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... |
ORPHA:8 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... |
ORPHA:79085 |
| Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
| Hemochromatosis, Type 3 |
|
Lymphopenia, Hypogonadotropic hypogonadism, Amenorrhea, Neutropenia, Anemia, Impotence |
OMIM:604250 |
| Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... |
ORPHA:91351 |
| Spermatogenic Failure 44 |
|
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... |
OMIM:619044 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Polyembryoma |
|
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... |
ORPHA:180229 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| 46,Xy Sex Reversal 3 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... |
OMIM:612965 |
| Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism |
|
Insulin-resistant diabetes mellitus, Secondary amenorrhea, Hypergonadotropic hypogonadism, Polycy... |
OMIM:268020 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
| Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... |
OMIM:618086 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty, Irregular menstruation, Clitoral hypertrophy, Long penis, Premature adrenarch... |
ORPHA:90795 |
| Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Bicornuate uterus, Primary amenorrhea |
OMIM:191830 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... |
OMIM:154230 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am... |
OMIM:612702 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pancreatiti... |
ORPHA:435651 |
| Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... |
ORPHA:65681 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea |
OMIM:264270 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... |
ORPHA:206484 |
| Lead Poisoning |
|
Decreased male libido, Imbalanced hemoglobin synthesis, Abnormality of the menstrual cycle, Infer... |
ORPHA:330015 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... |
OMIM:308700 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... |
OMIM:618096 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... |
ORPHA:572333 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Secondary amenorrhea, Premature pubarche |
OMIM:612847 |
| Hemochromatosis, Type 2B |
|
Hypogonadism, Splenomegaly, Anemia, Secondary amenorrhea |
OMIM:613313 |
| Amed Syndrome, Digenic |
|
Leukopenia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Anemia, Hypoplasia of t... |
OMIM:619151 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... |
OMIM:614324 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... |
ORPHA:91354 |
| Mody |
|
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... |
ORPHA:552 |
| Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis |
OMIM:233400 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... |
OMIM:604367 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... |
ORPHA:435660 |
| Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Decreased fertil... |
ORPHA:91349 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly |
OMIM:610539 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Secondary ameno... |
OMIM:301033 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impoten... |
OMIM:235200 |
| Premature Ovarian Failure 22 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... |
OMIM:620548 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis |
OMIM:614880 |
| Frasier Syndrome |
|
Primary amenorrhea, Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis |
OMIM:136680 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
| Ovarian Dysgenesis 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplastic labia majo... |
OMIM:618187 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Lipodystrophy, Hepatomegaly |
OMIM:608776 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... |
ORPHA:71529 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Classic Galactosemia |
|
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... |
ORPHA:79239 |
| Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Failure to thrive, Hypocholesterolemia, Psoriasiform dermatitis, Decreased LDL cholesterol concen... |
OMIM:616834 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... |
OMIM:146255 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... |
ORPHA:1772 |
| Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615842 |
| Placental Site Trophoblastic Tumor |
|
Amenorrhea, Metrorrhagia |
ORPHA:99928 |
| Kallmann Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Breast hypoplasia, H... |
ORPHA:478 |
| Potocki-Lupski Syndrome |
|
Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Hypothyroidism, Hyperactivity,... |
OMIM:610883 |
| Androgen Insensitivity, Partial |
|
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... |
OMIM:312300 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatic failure, Intrahepatic cholestasis, Elevated circulating hepatic tra... |
OMIM:607765 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism |
ORPHA:2183 |
| Popliteal Pterygium Syndrome |
|
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... |
OMIM:119500 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hypochromia, Poikilocytosis, Anemi... |
OMIM:615234 |
| Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
| Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Cryptorchidism, Hypothyroidism, Delayed puberty, Adrenal hypoplasia,... |
ORPHA:95496 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hy... |
ORPHA:324575 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... |
OMIM:246700 |
| Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Hypogonadotropic hypogonadism, Decreased circulati... |
OMIM:600955 |
| Narcolepsy Type 1 |
|
Precocious puberty, Hyperhidrosis, Male sexual dysfunction, Female sexual dysfunction |
ORPHA:2073 |
| Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Vaginal atresia, Hydrometrocolpos |
OMIM:615989 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia |
OMIM:618165 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea |
OMIM:244200 |
| Congenital Generalized Lipodystrophy |
|
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hyperinsul... |
ORPHA:528 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea, Adrenog... |
OMIM:202110 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
| Pituitary Gigantism |
|
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... |
ORPHA:99725 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... |
ORPHA:90791 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H... |
ORPHA:752 |
| Ring Chromosome 21 Syndrome |
|
Amenorrhea, Azoospermia, Diabetes insipidus, Infertility |
ORPHA:1445 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Increase... |
ORPHA:231222 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Infertility, Male pseudohermaphroditism, Hypothyroidism, Female external genitalia in individual ... |
OMIM:264300 |
| Obesity |
|
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Amenorrhea, Premature ovarian insufficiency |
OMIM:619425 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... |
OMIM:614839 |
| Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... |
ORPHA:325124 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased serum estradiol, Decreased testicular size, Hypogonadotropic hypogonadism, Primary amen... |
OMIM:604168 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... |
OMIM:612526 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Splenomegaly, Dysmenorrhea, Polycystic ovaries, Oligomenorrh... |
ORPHA:79083 |
| Prolactinoma |
|
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... |
ORPHA:2965 |
| Spermatogenic Failure 13 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615841 |
| 49,Xyyyy Syndrome |
|
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... |
ORPHA:99330 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... |
OMIM:250790 |
| Premature Ovarian Failure 11 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea |
OMIM:616946 |
| Trisomy X |
|
Precocious puberty, Premature ovarian insufficiency, Secondary amenorrhea |
ORPHA:3375 |
| Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... |
OMIM:301077 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:300946 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Abnormal circulating dehydroepia... |
ORPHA:90794 |
| Tetragametic Chimerism |
|
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Blood group antigen abnormality, A... |
ORPHA:199310 |
| Lig4 Syndrome |
|
Pancytopenia, Type II diabetes mellitus, Cryptorchidism, Amenorrhea, Hypothyroidism, Thrombocytop... |
OMIM:606593 |
| Myotonic Dystrophy 2 |
|
Hypogonadism, Type II diabetes mellitus, Elevated circulating follicle stimulating hormone level,... |
OMIM:602668 |
| Interstitial Cystitis |
|
Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormal vagina morph... |
ORPHA:37202 |
| Whim Syndrome 1 |
|
Abnormal female external genitalia morphology, Neutropenia, Abnormal morphology of female interna... |
OMIM:193670 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, Polycystic ovaries |
OMIM:616831 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary amenorrhea, Micropenis |
OMIM:147950 |
| Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Hepatom... |
OMIM:266510 |
| Aromatase Deficiency |
|
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... |
ORPHA:91 |
| 48,Xyyy Syndrome |
|
Male hypogonadism, Primary gonadal insufficiency, Azoospermia |
ORPHA:99329 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Secondary amenorrhea, Goiter |
OMIM:617175 |
| Congenital Factor Vii Deficiency |
|
Menorrhagia, Ovarian cyst |
ORPHA:327 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:289548 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... |
ORPHA:95699 |
| Gapo Syndrome |
|
Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea |
ORPHA:2067 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... |
ORPHA:280679 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypogonadism, Adrenal insufficiency, Azoospermia, Hepatosplenomegaly, Hypothyroidism, Reticulocyt... |
ORPHA:300298 |
| Solitary Fibrous Tumor |
|
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of the liver, Weight los... |
ORPHA:2126 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Metrorrhagia, Pancreatitis, Anemia... |
ORPHA:370348 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Hepatosplenomegaly, Oligozoospermia, Abnormal testis morphology, Anemia, Primary te... |
ORPHA:85450 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:369 |
| Squalene Synthase Deficiency |
|
Elbow flexion contracture, Hypocholesterolemia, Failure to thrive in infancy, Knee flexion contra... |
OMIM:618156 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Decreased libido, Splenomegaly, Hypogonadotropic hypo... |
ORPHA:465508 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... |
ORPHA:261519 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Premature Ovarian Failure 2A |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circula... |
OMIM:300511 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... |
ORPHA:562 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
OMIM:212065 |
| Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... |
OMIM:102200 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... |
OMIM:201750 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Burkitt Lymphoma |
|
Abnormality of the ovary, Abnormality of the spleen, Decreased proportion of CD4-positive helper ... |
ORPHA:543 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Ambiguous genitalia, female, Fused labia minora, Increased size of the clitoris, Primary amenorrhea |
ORPHA:2975 |
| Prune Belly Syndrome |
|
Abnormality of the uterus, Decreased testicular size, Decreased fertility, Cryptorchidism, Urogen... |
ORPHA:2970 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Diabetes mellitus, Secondary amenor... |
ORPHA:2348 |
| Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency, P... |
OMIM:137920 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Premature Ovarian Failure 14 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... |
OMIM:618014 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, Small scrotum, Small pituitary gland, Premature adrenarche, Xerostomia, Centr... |
ORPHA:398079 |
| Leopard Syndrome 1 |
|
Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,... |
OMIM:151100 |
| 46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... |
OMIM:400045 |
| Alg12-Cdg |
|
Hypoalbuminemia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Fa... |
ORPHA:79324 |
| Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Testicular atrophy,... |
OMIM:222300 |
| Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia, Patent ductus arteriosus, Absent outer dynein arms |
OMIM:618300 |
| Premature Ovarian Failure 20 |
|
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... |
OMIM:619938 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Type I diabetes mellitus, Hypocholesterolemia, Abetalipoproteinemia, Elevated circulating creatin... |
ORPHA:96180 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Microphallus, Abnormal scrotum morphology, Cryptorchidism, Dysmenorrhea, Hypothyro... |
ORPHA:397590 |
| Chylomicron Retention Disease |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... |
ORPHA:71 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... |
ORPHA:98754 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... |
OMIM:300845 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, HbH hemoglobin, Hypospadias, Cryptorchidism |
ORPHA:98791 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:617914 |
| Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias |
OMIM:309801 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... |
ORPHA:98793 |
| Meckel Syndrome 12 |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:616258 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Type I diabetes mellitus, Hypogonadism, Delayed menarche, Type II diabetes mellitus, Hypothyroidi... |
ORPHA:412057 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... |
OMIM:615962 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Pancytopenia, Thrombocytopenia |
OMIM:613987 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormal morphology of female internal genitalia |
ORPHA:2141 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... |
ORPHA:177904 |
| Hand-Foot-Genital Syndrome |
|
Uterus didelphys, Bifid scrotum, Chordee, Micropenis, Hypospadias, Longitudinal vaginal septum |
OMIM:140000 |
| Adenohypophysitis |
|
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Fa... |
OMIM:617872 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... |
ORPHA:177901 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... |
OMIM:615558 |
| Bardet-Biedl Syndrome 6 |
|
Vaginal atresia, External genital hypoplasia, Hypospadias, Diabetes mellitus |
OMIM:605231 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... |
OMIM:157640 |
| Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Pigment gallstones, Increased mean corpus... |
ORPHA:232 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Splenomegaly, Dysmenorrhea, Polycystic ovaries, Abnormal erythrocyte enzy... |
ORPHA:264580 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
| Panhypophysitis |
|
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... |
ORPHA:95513 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Patent ductus arteriosus, Abnormal vagina morphology, Thrombocytopenia |
ORPHA:2123 |
| Chronic Mucocutaneous Candidiasis |
|
Dyspareunia, Abnormal vagina morphology |
ORPHA:1334 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Delayed puberty |
OMIM:615866 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Irregular menstruation, Supernumerary nipple |
ORPHA:1809 |
| Familial Glucocorticoid Deficiency |
|
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... |
ORPHA:361 |
| 8P11.2 Deletion Syndrome |
|
Hypogonadism, Azoospermia, Cryptorchidism, Splenomegaly, Hypogonadotropic hypogonadism, Patent du... |
ORPHA:251066 |
| Galactokinase Deficiency |
|
Small for gestational age, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,... |
ORPHA:79237 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Oligomenorrhea, Insulin-resistant diabetes mellitus |
OMIM:613877 |
| Prader-Willi Syndrome |
|
Premature adrenarche, Small scrotum, Xerostomia, Central adrenal insufficiency, Cryptorchidism, H... |
ORPHA:739 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... |
OMIM:151660 |
| Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer, Neoplasm of the pancreas |
ORPHA:145 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Splenomegaly, Dysmenorrhea, Polycystic ovaries, Oligomenorrhea, Anemia |
ORPHA:79240 |
| Duplication Of Urethra |
|
Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Chorde... |
ORPHA:237 |
| Pituitary Apoplexy |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:95613 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... |
OMIM:618820 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decreased testicu... |
ORPHA:90695 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypocholesterolemia, Neonatal death |
OMIM:618810 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Irregular menstruation, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoacidosis |
OMIM:615238 |
| Camptobrachydactyly |
|
Septate vagina |
ORPHA:1319 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... |
OMIM:615160 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... |
ORPHA:14 |
| Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... |
ORPHA:91347 |
| Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Nephrogenic diabetes insipidus... |
OMIM:209900 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Clitoral hypoplasia, Breast hypoplasia, Diabetes mellitus, Oligozoospermia |
OMIM:614813 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| Glanzmann Thrombasthenia |
|
Menometrorrhagia, Menorrhagia |
ORPHA:849 |
| H Syndrome |
|
Histiocytosis, Hypogonadism, Decreased testicular size, Azoospermia, Microcytic anemia, Hepatospl... |
ORPHA:168569 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... |
ORPHA:453533 |
| Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia |
OMIM:267400 |
| Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... |
OMIM:306000 |
| Bardet-Biedl Syndrome |
|
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas... |
ORPHA:110 |
| Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Menorrhagia |
ORPHA:168816 |
| Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Hepato... |
OMIM:231100 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... |
OMIM:305400 |
| Bloom Syndrome |
|
Azoospermia, Decreased proportion of CD4-positive T cells, Abnormal proportion of CD8-positive T ... |
ORPHA:125 |
| Renal Hypodysplasia/Aplasia 3 |
|
Abnormality of the uterus |
OMIM:617805 |
| Renal Nutcracker Syndrome |
|
Varicocele, Dysmenorrhea, Vulval varicose vein, Dyspareunia, Anemia, Infertility |
ORPHA:71273 |
| Gangliocytoma |
|
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... |
ORPHA:251937 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Acrodysostosis |
|
Abnormal female external genitalia morphology, Cryptorchidism, Irregular menstruation, Hypogonadism |
ORPHA:950 |
| Peters-Plus Syndrome |
|
Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the vagina, Bilobate gallbladder, Hypopla... |
OMIM:261540 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic... |
OMIM:618419 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... |
OMIM:601186 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Micropenis, Decreased testicular size, Hypoplasia of the ovary, Leukocytosis |
OMIM:619321 |
| Camptobrachydactyly |
|
Septate vagina |
OMIM:114150 |
| Familial Afibrinogenemia |
|
Menometrorrhagia |
ORPHA:98880 |
| Meacham Syndrome |
|
Abnormal vagina morphology, Hydrometrocolpos, Abnormality of the spleen, Cryptorchidism, Ambiguou... |
ORPHA:3097 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Cyanosis, Low p... |
OMIM:261680 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormality of the male genitalia, Cryptorchidism, Abnormal hemoglobin, Male pseudohermaphroditis... |
ORPHA:847 |
| Sheehan Syndrome |
|
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... |
ORPHA:91355 |
| Denys-Drash Syndrome |
|
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... |
OMIM:194080 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Irregular menstruation, Elevated circulating parathyroid hormone level, Elevated circulating thyr... |
OMIM:101800 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Klippel-Trénaunay Syndrome |
|
Abnormality of the menstrual cycle, Microcytic anemia, Patent ductus arteriosus |
ORPHA:90308 |
| Ulnar-Mammary Syndrome |
|
Abnormality of the uterus, Breast aplasia, Decreased fertility, Cryptorchidism, Hypoplastic nippl... |
ORPHA:3138 |
| Malakoplakia |
|
Abnormality of the menstrual cycle, Prostate neoplasm, Orchitis |
ORPHA:556 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Exocrine pancrea... |
OMIM:617052 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... |
OMIM:610475 |
| Prader-Willi Syndrome |
|
Precocious puberty, Small scrotum, Decreased response to growth hormone stimulation test, Externa... |
OMIM:176270 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Wilson Disease |
|
Abnormality of the menstrual cycle, Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:905 |
| Limb-Mammary Syndrome |
|
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... |
ORPHA:69085 |
| Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... |
OMIM:613027 |
| Wolfram Syndrome 2 |
|
Diabetes insipidus, Oligomenorrhea, Diabetes mellitus, Primary amenorrhea |
OMIM:604928 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231226 |
| Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid gland, Leukemia, Pure r... |
ORPHA:99867 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal morphology of female internal genitalia |
ORPHA:1797 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Decreased fertility, Type II diabetes... |
OMIM:269700 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypoparathyroidism, Aplasia of the uter... |
ORPHA:2237 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Irregular menstruation, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine n... |
ORPHA:189427 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231214 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypop... |
ORPHA:95494 |
| Tenorio Syndrome |
|
Recurrent pneumonia, Hypoglycemia, Recurrent aphthous stomatitis, Keratoconjunctivitis sicca, Hyp... |
OMIM:616260 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy, Megaloblastic anemia |
OMIM:300322 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... |
ORPHA:90363 |
| Bloom Syndrome |
|
Azoospermia, Type II diabetes mellitus, Cryptorchidism, Decreased fertility in females, Leukemia,... |
OMIM:210900 |
| Hereditary Mucoepithelial Dysplasia |
|
Abnormal morphology of female internal genitalia |
ORPHA:1839 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... |
OMIM:620454 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Irregular menstruation, Uterine leiomyoma |
OMIM:616482 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... |
OMIM:614736 |
| Apparent Mineralocorticoid Excess |
|
Polydipsia, Failure to thrive, Abnormality of circulating cortisol level, Decreased circulating r... |
ORPHA:320 |
| Alg9-Cdg |
|
Hypoplastic nipples, Bicornuate uterus, Hypoplasia of the ovary |
ORPHA:79328 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Thrombocytopenia, Metrorrhagia, Menorrhagia |
OMIM:614074 |
| Diabetic Embryopathy |
|
Micropenis, Cryptorchidism, Abnormal morphology of female internal genitalia |
ORPHA:1926 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Splenomegaly, Polycystic ovaries, Dec... |
OMIM:608594 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Cryptorchidism, Shawl scrotum, Hypochromic microcytic anemia, Micropenis, Reduced... |
OMIM:301040 |
| Mckusick-Kaufman Syndrome |
|
Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Vaginal atresia, Rectovaginal fistul... |
OMIM:236700 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormality of the uterus, Pancreatic lymphangiectasis, Hepatosplenomegaly, Cryptorchidism, Splen... |
ORPHA:1655 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Primary amenorrhea, Micr... |
OMIM:603457 |
| Dubowitz Syndrome |
|
Eczematoid dermatitis, Hypocholesterolemia, Inguinal hernia, Otitis media, Hyperactivity |
OMIM:223370 |
| Mckusick-Kaufman Syndrome |
|
Hydrometrocolpos, Glandular hypospadias, Cryptorchidism, Urogenital sinus anomaly, Patent ductus ... |
ORPHA:2473 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... |
ORPHA:322 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase... |
OMIM:617049 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
| Hemophilia B |
|
Menometrorrhagia |
ORPHA:98879 |
| Trisomy 13 |
|
Patent ductus arteriosus, Displacement of the urethral meatus, Cryptorchidism, Abnormal morpholog... |
ORPHA:3378 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... |
OMIM:201810 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Hypoglycemia, Dec... |
OMIM:617093 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... |
OMIM:251880 |
| Smith-Lemli-Opitz Syndrome |
|
Cholestatic liver disease, Hypoalbuminemia, Precocious puberty, Eczematoid dermatitis, Failure to... |
OMIM:270400 |
| Meacham Syndrome |
|
Accessory spleen, Septate vagina, Male pseudohermaphroditism, Patent ductus arteriosus, Bicornuat... |
OMIM:608978 |
| Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia, Failure to thrive |
OMIM:244450 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Irregular menstruation, Menorrhagia, Polycystic ovaries, Hypothyroidism, Pancreatitis, Delayed pu... |
ORPHA:79259 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Alstrom Syndrome |
|
Irregular menstruation, Insulin-resistant diabetes mellitus, Decreased response to growth hormone... |
OMIM:203800 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Xerostomia, Decreased response to growth hormone stimulation test, Transverse vaginal septum, Cry... |
OMIM:129900 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Increased circulating ACTH level, Oligomenorrhea, Pituitary adenoma |
OMIM:219090 |
| Late-Onset Isolated Acth Deficiency |
|
Type I diabetes mellitus, Pituitary adenoma, Hepatitis, Hypoglycemia, Graves disease, Adrenocorti... |
ORPHA:199299 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Xerostomia, Decreased response to growth hormone stimulation test, Transverse vaginal septum, Cry... |
OMIM:604292 |
| Meningioma |
|
Secondary growth hormone deficiency, Impotence, Decreased serum estradiol, Hypothalamic hypothyro... |
ORPHA:2495 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Hypothyroidism, Neut... |
OMIM:618849 |
| Alkaptonuria |
|
Black pigment gallstones, Methemoglobinemia, Prostatitis, Hypothyroidism, Hemolytic anemia |
ORPHA:56 |
| Congenital Factor V Deficiency |
|
Metrorrhagia, Menorrhagia |
ORPHA:326 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Clitoral hypertrophy, Septate vagina, Labial hypoplasia, Rectovaginal fistula, Bicornuate uterus |
OMIM:300707 |
| Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... |
ORPHA:79444 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Multiple Endocrine Neoplasia, Type I |
|
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Hypoglycemia, Subcutane... |
OMIM:131100 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... |
ORPHA:64739 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Vaginal atresia, Cryptorchidism |
ORPHA:3301 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... |
ORPHA:404454 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Vaginal atresia, Hypoplastic labia majora, Fused labia minora |
OMIM:207410 |
| Apparent Mineralocorticoid Excess |
|
Failure to thrive, Decreased circulating renin level, Hypokalemia, Decreased circulating aldoster... |
OMIM:218030 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Hypospadias, Cryptorchidism, Abnormal morphology of female internal genitalia |
ORPHA:2311 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Hypochromic anemia, Metrorrhagia, Refractory anemia, Menorrhagia |
ORPHA:99147 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:103900 |
| Lumbar Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... |
ORPHA:83628 |
| Vacterl/Vater Association |
|
Bifid scrotum, Abnormal morphology of female internal genitalia, Cryptorchidism, Ambiguous genita... |
ORPHA:887 |
| Hypomandibular Faciocranial Dysostosis |
|
Patent ductus arteriosus, Abnormal morphology of female internal genitalia |
ORPHA:1790 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Abnormality of the menstrual cycle, Microcytic an... |
ORPHA:906 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... |
ORPHA:99413 |
| Turner Syndrome |
|
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... |
ORPHA:99228 |
| Monosomy X |
|
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... |
ORPHA:99226 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the spleen, Abnormal morphology of female internal genitalia |
ORPHA:1834 |
| Schinzel-Giedion Syndrome |
|
Annular pancreas, Central hypothyroidism, Streak ovary, Myeloid leukemia, Micropenis, Hypospadias |
ORPHA:798 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Somatomammotropinoma |
|
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... |
ORPHA:314769 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Patent ductus arteriosus, Macrocytic anemia, Persistence of he... |
OMIM:612561 |
| Currarino Syndrome |
|
Septate vagina, Rectovaginal fistula, Bicornuate uterus |
OMIM:176450 |
| Familial Adenomatous Polyposis 4 |
|
Thyroid adenoma, Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Pneumonia, Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circul... |
ORPHA:90790 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia |
OMIM:613677 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... |
OMIM:616026 |
| Addison Disease |
|
Adrenal calcification, Weight loss, Anorexia, Hypoparathyroidism, Hyperkalemia, Thymoma, Androgen... |
ORPHA:85138 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
| Tetrasomy 9P |
|
Absent gallbladder, Cryptorchidism, Oligozoospermia, Micropenis, Infertility |
ORPHA:3310 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
| Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia |
ORPHA:31150 |
| Cushing Disease |
|
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... |
ORPHA:96253 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Adrenal hype... |
ORPHA:99889 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micropenis, Septate vagina, Absent gallbladder, Uterus didelphys |
OMIM:617925 |
| Steinert Myotonic Dystrophy |
|
Male hypogonadism, Cholelithiasis, Decreased response to growth hormone stimulation test, Decreas... |
ORPHA:273 |
| Dyskeratosis Congenita |
|
Abnormal morphology of female internal genitalia, Splenomegaly, Displacement of the urethral meat... |
ORPHA:1775 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... |
OMIM:617156 |
| Pagod Syndrome |
|
Abnormality of the uterus, Abnormal morphology of female internal genitalia, Abnormality of the s... |
ORPHA:991 |
| Alström Syndrome |
|
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly... |
ORPHA:64 |
| Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Glucocortocoid-i... |
ORPHA:231580 |
| Peters Plus Syndrome |
|
Congenital hypothyroidism, Cryptorchidism, Patent ductus arteriosus, Hypoplasia of the uterus, Hy... |
ORPHA:709 |
| Pallister-Hall Syndrome |
|
Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ... |
ORPHA:672 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Thrombocytopenia |
ORPHA:3320 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Manitoba Oculotrichoanal Syndrome |
|
Vaginal atresia |
OMIM:248450 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Vaginal atresia, Splenomegaly, Patent ductus arteriosus, Hydrometrocolpos |
OMIM:617088 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Increased circulating cortisol level, Decreased circulating renin level, Hypokalemia, Neoplasm of... |
ORPHA:231625 |
| X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism |
ORPHA:3063 |
| Waardenburg Syndrome, Type 1 |
|
Aplasia of the vagina |
OMIM:193500 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia, Reduced blood ... |
OMIM:300539 |
| Townes-Brocks Syndrome 2 |
|
Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Imperforate hymen, Hematocolpos, Cryptorchidism, Chordee, Hydrocele testis, Hypospadias, Patent d... |
OMIM:619522 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Adenoma sebaceum, Abnormal morphology of female internal genitalia |
ORPHA:3353 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Renal Agenesis, Bilateral |
|
Abnormal morphology of female internal genitalia |
ORPHA:1848 |
| Microphthalmia, Syndromic 2 |
|
Adrenal insufficiency, Septate vagina, Cryptorchidism, Hypothyroidism, Hypospadias, Patent ductus... |
OMIM:300166 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Apert Syndrome |
|
Vaginal atresia, Hyperhidrosis, Cryptorchidism |
OMIM:101200 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... |
ORPHA:231632 |
| Oeis Complex |
|
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... |
OMIM:258040 |
| Tetraamelia Syndrome 1 |
|
Absent external genitalia, Adrenal gland agenesis, Vaginal atresia, Asplenia, Hypoplasia of the f... |
OMIM:273395 |
| Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
| Norrie Disease |
|
Uterine rupture, Cryptorchidism, Delayed puberty, Erectile dysfunction, Diabetes mellitus |
ORPHA:649 |
| Chand Syndrome |
|
Imperforate hymen, Hypohidrosis |
ORPHA:1401 |
| Ellis Van Creveld Syndrome |
|
Acute leukemia, Abnormal morphology of female internal genitalia, Cryptorchidism, Hypospadias, Ep... |
ORPHA:289 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple |
ORPHA:1521 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Primary hyperaldosteronism, Decreased circulating renin level |
OMIM:615474 |
| Charge Syndrome |
|
Bifid scrotum, Abnormal morphology of female internal genitalia, Cryptorchidism, Hypogonadotropic... |
ORPHA:138 |
| Glycogen Storage Disease Ic |
|
Inflammation of the large intestine, Hypoglycemia, Xanthelasma, Gout, Chronic pancreatitis, Hyper... |
OMIM:232240 |
| Johanson-Blizzard Syndrome |
|
Clitoral hypertrophy, Exocrine pancreatic insufficiency, Septate vagina, Cryptorchidism, Splenome... |
OMIM:243800 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Pontocerebellar Hypoplasia Type 7 |
|
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... |
ORPHA:284339 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Acute myeloid leuke... |
OMIM:260400 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus, Anemia |
OMIM:614083 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Persistence of hemoglobin F |
OMIM:619769 |
| Mowat-Wilson Syndrome |
|
Webbed penis, Bifid scrotum, Septate vagina, Cryptorchidism, Chordee, Oligomenorrhea, Micropenis,... |
ORPHA:2152 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Imperforate hymen, Small scrotum, Axillary apocrine gland hypoplasia... |
OMIM:181450 |
| Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618126 |
| Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:177200 |
| Trisomy 18 |
|
Cryptorchidism, Abnormal morphology of female internal genitalia |
ORPHA:3380 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism, Decreased circulating renin level |
OMIM:614492 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Peno... |
OMIM:618280 |
| Fraser Syndrome 1 |
|
Clitoral hypertrophy, Cryptorchidism, Micropenis, Abnormal thymus morphology, Vaginal atresia, Bi... |
OMIM:219000 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Fraser Syndrome |
|
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Ambiguou... |
ORPHA:2052 |
| African Trypanosomiasis |
|
Abnormality of the menstrual cycle, Hepatosplenomegaly, Abnormality of circulating cortisol level... |
ORPHA:3385 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Bilateral cryptorchidism, Hyperhidrosis, Hypohidrosis, Hydrometrocolpos |
OMIM:150230 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Webbed penis, Bifid scrotum, Septate vagina, Cryptorchidism, Chordee, Micropenis, Asplenia, Hydro... |
ORPHA:261537 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Aplasia of the uterus, Eosinophilia, Thrombocytopenia, Anemia, ... |
OMIM:274000 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| Lymphangioleiomyomatosis |
|
Abnormal morphology of female internal genitalia |
ORPHA:538 |
| Adams-Oliver Syndrome 1 |
|
Imperforate hymen, Supernumerary nipple |
OMIM:100300 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Webbed penis, Bifid scrotum, Septate vagina, Cryptorchidism, Chordee, Micropenis, Asplenia, Hydro... |
ORPHA:261552 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Abnormal vagina morphology, Adrenal gland dysgenesis, Bifid uterus, Hypospadias |
OMIM:236680 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Anemia, Cervical insufficiency |
OMIM:130050 |
| Loeys-Dietz Syndrome |
|
Patent ductus arteriosus, Uterine rupture |
ORPHA:60030 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Accessory spleen, Cryptorchidism, Aplasia of the uterus, Hypospadias |
OMIM:194190 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Cryptorchidism, Hypothyroidism, Rectoperineal fistula, Bifid uterus, Rectovaginal ... |
OMIM:107480 |
| Neu-Laxova Syndrome 1 |
|
Bifid uterus, Patent ductus arteriosus, Cryptorchidism |
OMIM:256520 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypoplastic... |
OMIM:276820 |
| Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Hypospadias, Patent ductus arteriosus |
OMIM:135900 |
| Okamoto Syndrome |
|
Bifid uterus, Splenomegaly |
ORPHA:2729 |
| Pallister-Killian Syndrome |
|
Small scrotum, Supernumerary nipple, Cryptorchidism, Aplasia of the uterus, Hypoplastic labia maj... |
OMIM:601803 |
| Vascular Ehlers-Danlos Syndrome |
|
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypospadias |
ORPHA:286 |
