| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Maturity-onset diabetes of the young |
OMIM:616329 |
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
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 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
| Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:125852 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
| 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 |
| Maturity-Onset Diabetes Of The Young, Type 1 |
|
Maturity-onset diabetes of the young |
OMIM:125850 |
| Pancreas, Dorsal, Agenesis Of |
|
Diabetes mellitus |
OMIM:167755 |
| Ovarian Dysgenesis 2 |
|
Primary amenorrhea, Delayed puberty, Gonadal hypoplasia, Abnormality of the uterus, Secondary ame... |
OMIM:300510 |
| Partial Chromosome Y Deletion |
|
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... |
ORPHA:1646 |
| Ovarian Dysgenesis 7 |
|
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:618117 |
| Spermatogenic Failure 63 |
|
Oligospermia, Reduced progressive sperm motility, Male infertility, Decreased testicular size |
OMIM:619689 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... |
ORPHA:251510 |
| Ovarian Dysgenesis 9 |
|
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... |
OMIM:619665 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... |
OMIM:614837 |
| Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... |
OMIM:619712 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... |
ORPHA:90796 |
| Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... |
OMIM:619515 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... |
ORPHA:168563 |
| Spermatogenic Failure, X-Linked, 3 |
|
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... |
OMIM:301059 |
| Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Decreased fertility, Dysmenorrhea |
OMIM:131200 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... |
ORPHA:52901 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... |
OMIM:612964 |
| Spermatogenic Failure 54 |
|
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... |
OMIM:619379 |
| Spermatogenic Failure 40 |
|
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... |
OMIM:618664 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Primary amenorrhea, Streak ovary, Secondary amenorrhea, Premature ovarian... |
OMIM:617565 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Delayed puberty, Cryptorchidism, Micropenis, D... |
OMIM:614841 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... |
OMIM:619585 |
| Spermatogenic Failure 48 |
|
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619108 |
| Premature Ovarian Failure 18 |
|
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... |
OMIM:619203 |
| Spermatogenic Failure 47 |
|
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm |
OMIM:619102 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:617690 |
| Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... |
OMIM:618643 |
| Ring Chromosome Y Syndrome |
|
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:261529 |
| Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
| Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... |
OMIM:619177 |
| Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
| Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
| Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614129 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... |
ORPHA:529970 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm |
OMIM:618670 |
| Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... |
OMIM:612310 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Absence of puberta... |
OMIM:614840 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Gordon Holmes Syndrome |
|
Hypogonadotropic hypogonadism, Oligomenorrhea, Infertility |
OMIM:212840 |
| Premature Ovarian Failure 10 |
|
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... |
OMIM:612885 |
| Isochromosomy Yp |
|
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
| Estrogen Resistance |
|
Hypoplasia of the uterus, Primary amenorrhea, Hyperinsulinemia |
OMIM:615363 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea |
ORPHA:397685 |
| Premature Ovarian Failure 5 |
|
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... |
OMIM:611548 |
| Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea |
OMIM:300604 |
| Perrault Syndrome 4 |
|
Primary amenorrhea, Decreased serum estradiol, Bicornuate uterus, Secondary amenorrhea, Premature... |
OMIM:615300 |
| Spermatogenic Failure 64 |
|
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility |
OMIM:619696 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Infertility, Primary amenorrhea, Cryptorchidism, Micropenis, Decre... |
OMIM:146110 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Hypergonadotropic hypogonadism, Gonadal dysgenesis, Primary amenorrhea |
OMIM:607080 |
| Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:300511 |
| Isochromosomy Yq |
|
Primary gonadal insufficiency, Varicocele, Azoospermia, Decreased testicular size, Male infertili... |
ORPHA:98798 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... |
OMIM:618841 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus |
OMIM:602485 |
| Familial Male-Limited Precocious Puberty |
|
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility |
ORPHA:3000 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Primary amenorrhea, Delayed puberty, Cryptorc... |
ORPHA:432 |
| Premature Ovarian Failure 8 |
|
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... |
OMIM:615723 |
| Obesity Due To Congenital Leptin Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... |
ORPHA:66628 |
| Premature Ovarian Failure 1 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation |
OMIM:311360 |
| 46,Xx Gonadal Dysgenesis |
|
Primary amenorrhea, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Secondary amenor... |
ORPHA:243 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus |
OMIM:613370 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... |
ORPHA:179494 |
| Wolfram-Like Syndrome, Autosomal Dominant |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:614296 |
| Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Partial vaginal septum, Abnormality of the uterine cervix, Dysmenorrhea, Hydrocolpos, Uterus dide... |
ORPHA:3411 |
| Satoyoshi Syndrome |
|
Amenorrhea, Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, ... |
ORPHA:3130 |
| Functioning Gonadotropic Adenoma |
|
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... |
ORPHA:91348 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... |
OMIM:619528 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea |
OMIM:615724 |
| Spermatogenic Failure 50 |
|
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size |
OMIM:619145 |
| 46,Xy Sex Reversal 11 |
|
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... |
OMIM:273250 |
| 46,Xx Sex Reversal 2 |
|
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... |
OMIM:278850 |
| Spermatogenic Failure 2 |
|
Azoospermia, Oligospermia |
OMIM:108420 |
| Diethylstilbestrol Syndrome |
|
Epididymal cyst, Decreased fertility in females, Cryptorchidism, Micropenis, Abnormality of the u... |
ORPHA:1916 |
| Hydatidiform Mole |
|
Menometrorrhagia, Enlarged uterus, Hyperthyroidism, Miscarriage, Anemia |
ORPHA:99927 |
| Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
| Müllerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Abnormality of the ovary, Abnormal vagina morphology, Increased serum testost... |
ORPHA:247768 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
| Frasier Syndrome |
|
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... |
ORPHA:347 |
| Gonadal Dysgenesis, Xy Type, With Associated Anomalies |
|
Gonadal dysgenesis, Primary amenorrhea |
OMIM:233430 |
| Testicular Regression Syndrome |
|
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... |
ORPHA:983 |
| Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Oligospermia, Infertility, Type II diabetes mellitus |
OMIM:615703 |
| Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Premature ovarian insufficiency, Amenorrhea |
OMIM:619425 |
| Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
| Estrogen Resistance Syndrome |
|
Abnormal circulating hormone concentration, Primary amenorrhea, Hyperinsulinemia, Absence of pube... |
ORPHA:785 |
| Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
| Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
| Leydig Cell Hypoplasia |
|
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... |
ORPHA:755 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
| Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Premature ovarian insufficiency, Hypogonadism, Decreased testicular size |
ORPHA:261483 |
| Tetrasomy X |
|
Premature ovarian insufficiency |
ORPHA:9 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Premature ovarian insufficiency |
ORPHA:75325 |
| Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
| Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613375 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... |
ORPHA:2235 |
| Insulinomatosis And Diabetes Mellitus |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:147630 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... |
OMIM:228300 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Abnormal circulating hormone concentration, Infertility, Hyperinsulinemia, Polycystic ovaries, In... |
ORPHA:280356 |
| Xp22.3 Microdeletion Syndrome |
|
Secondary amenorrhea, Decreased fertility, Hypogonadotropic hypogonadism, Polycystic ovaries |
ORPHA:1643 |
| Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... |
ORPHA:314478 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility |
OMIM:619672 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Premature ovarian insufficiency |
OMIM:615889 |
| Hyperprolactinemia |
|
Menorrhagia, Infertility, Increased circulating prolactin concentration, Oligomenorrhea |
OMIM:615555 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Hypergonadotropic hypogonadism, Streak ovary |
OMIM:241090 |
| Hypersecretion Of Adrenal Androgens, Familial |
|
Premature pubarche, Increased circulating androgen concentration, Amenorrhea, Adrenal overactivity |
OMIM:145295 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Premature ovarian insufficiency |
ORPHA:2278 |
| 46,Xy Sex Reversal 7 |
|
Abnormality of the epididymis, Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, ... |
OMIM:233420 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Pure red cell aplasia, Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... |
ORPHA:399805 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormality of the uterine cervix, Aplasia of the uterus, Increased antimullerian hormone level, ... |
ORPHA:99429 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Amenorrhea |
OMIM:600705 |
| 46,Xy Sex Reversal 1 |
|
Primary amenorrhea, Elevated circulating luteinizing hormone level, Abnormality of female externa... |
OMIM:400044 |
| Perrault Syndrome 5 |
|
Hypergonadotropic hypogonadism, Gonadal dysgenesis, Primary amenorrhea |
OMIM:616138 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Decreased circulating follicle stimulating hormone concentration, Primary amenorrhea... |
OMIM:229070 |
| Leptin Deficiency Or Dysfunction |
|
Primary amenorrhea, Micropenis, Decreased serum leptin, Hypogonadism, Decreased testicular size |
OMIM:614962 |
| Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Oligomenorrhea |
OMIM:604931 |
| Spermatogenic Failure 4 |
|
Azoospermia |
OMIM:270960 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... |
ORPHA:293964 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... |
OMIM:202010 |
| Partial Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... |
ORPHA:90797 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233300 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
| Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
| Spermatogenic Failure 22 |
|
Azoospermia, Infertility |
OMIM:617706 |
| Kennedy Disease |
|
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy |
ORPHA:481 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:617175 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Amenorrhea, Female infertility, Premature ovarian insufficiency, Increase... |
OMIM:110100 |
| Amenorrhea-Galactorrhea Syndrome |
|
Secondary amenorrhea, Pituitary adenoma |
OMIM:104600 |
| Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Cryptorchidi... |
OMIM:300200 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadism, Decreased testicular size |
OMIM:616030 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Poikilocytosis, Azoospermia, Splenomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia... |
OMIM:615234 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Primary gonadal insufficiency, Infertility, Primary amenorrhea, Delayed pu... |
ORPHA:2232 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Primary adrenal insufficiency, Irregular menstruation, Primary amenorrhea, Elevated circulating l... |
ORPHA:90793 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Infertility, Testicular atrophy |
OMIM:613909 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
| Premature Ovarian Failure 16 |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Decreas... |
OMIM:618723 |
| Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... |
ORPHA:754 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Bicornuate uterus, Hypoplasia of the uterus |
OMIM:601076 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Amenorrhea, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tub... |
OMIM:158330 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus, Amenorrhea |
OMIM:277000 |
| Premature Ovarian Failure 17 |
|
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... |
OMIM:619146 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Amenorrhea, Polycystic ovaries, Abnormality of the ovary, Menorrhagia, Abnormality of the urethra... |
ORPHA:2795 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Increased adipose tissue, Childhood-onset truncal obesity, Type II dia... |
ORPHA:71529 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Increased hepat... |
OMIM:232700 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Polycystic ovaries, Cryptorchidism, Secondary amenorrhea, Type II diabetes mell... |
ORPHA:3085 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Pituicytoma |
|
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... |
ORPHA:251623 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Diabetes mellitus,... |
OMIM:610628 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Premature ovarian insufficiency, Hypothyroidism, Male hypogonadism |
OMIM:618625 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Streak ova... |
OMIM:194072 |
| Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Male infertility, Testicular atrophy |
ORPHA:276183 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Micropenis, Cryptorchidism, Azoospermia, Decreased testicular size |
OMIM:614897 |
| Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Male infertility, Testicular atrophy |
OMIM:309120 |
| Transient Neonatal Diabetes Mellitus |
|
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Failure to thrive, Transient ne... |
ORPHA:99886 |
| Beta-Thalassemia |
|
Cholelithiasis, Microcytic anemia, Hypogonadotropic hypogonadism, Splenomegaly, Anemia, Abnormal ... |
ORPHA:848 |
| Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:609441 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Primary amenorrhea, Delayed puberty, Secondary growth hormone deficiency, Increased circulating g... |
ORPHA:2410 |
| Leukoencephalopathy With Vanishing White Matter |
|
Primary gonadal insufficiency, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuff... |
OMIM:603896 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased testicular size |
OMIM:614880 |
| Androgen Insensitivity Syndrome |
|
Primary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follicle... |
OMIM:300068 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Abn... |
ORPHA:171706 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| 47,Xyy Syndrome |
|
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Increased serum testosterone level, Oligospe... |
ORPHA:8 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... |
ORPHA:399808 |
| Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia, Splenomegaly |
OMIM:602390 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Amenorrhea, Oligomenorrhea, Panhypopituitarism, Anterior hypopituitarism, Increased circulating p... |
ORPHA:91351 |
| Post-Traumatic Pituitary Deficiency |
|
Central diabetes insipidus, Hypogonadotropic hypogonadism, Infertility, Delayed puberty, Amenorrh... |
ORPHA:95619 |
| Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Hypothyroidism, Hyperinsulinemia, Delayed puberty, Micropenis, Abnormal... |
ORPHA:3464 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Adrenal hyperplasia, Oligomenorrhea, Increased urinary cortisol level, Oligospermia,... |
ORPHA:786 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... |
ORPHA:2138 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Neo... |
ORPHA:324575 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency |
OMIM:618124 |
| Non-Functioning Pituitary Adenoma |
|
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... |
ORPHA:91349 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... |
ORPHA:90039 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea |
OMIM:617442 |
| Premature Ovarian Failure 15 |
|
Oligomenorrhea |
OMIM:618096 |
| Hemoglobin E Disease |
|
Splenomegaly, Miscarriage, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequ... |
ORPHA:2133 |
| Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Amenorrhea, Neutropenia, Anemia, Impotence, Lymphopenia |
OMIM:604250 |
| Polyembryoma |
|
Irregular menstruation, Increased serum testosterone level, Increased serum serotonin, Abnormal c... |
ORPHA:180229 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Primary amenorrhea, Hypergonadotropic hypogonadism, Ovarian cyst |
OMIM:613546 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased testicular size |
OMIM:614858 |
| Bardet-Biedl Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Hypoplasia of the ovary |
ORPHA:110 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Irregular menstruation, Polycystic ovaries, Goiter, Abnormal penis morphology, Abnormal calcium-p... |
ORPHA:457059 |
| Hyperostosis Frontalis Interna |
|
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration |
OMIM:144800 |
| Myotonic Dystrophy 2 |
|
Oligospermia, Elevated circulating follicle stimulating hormone level, Diabetes mellitus, Hypogon... |
OMIM:602668 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis |
OMIM:612702 |
| Woodhouse-Sakati Syndrome |
|
Hypogonadotropic hypogonadism, Micropenis, Decreased serum testosterone concentration, Hypoplasia... |
OMIM:241080 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Obesity, Central a... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Obesity, Central a... |
ORPHA:71526 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Se... |
OMIM:301033 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Premature ovarian insufficiency, Decreased serum testosterone concentration |
ORPHA:101006 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome |
|
Premature ovarian insufficiency |
ORPHA:126 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Secondary amenorrhea, Hypergonadotropic hypogonadism, Polycystic ovaries, Insulin-resistant diabe... |
OMIM:268020 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Irregular menstruation, Premature pubarche, ... |
ORPHA:90795 |
| 46,Xy Sex Reversal 3 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... |
OMIM:612965 |
| Galactosemia |
|
Decreased fertility, Primary amenorrhea, Cryptorchidism, Secondary amenorrhea, Decreased serum in... |
ORPHA:352 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Decreased s... |
ORPHA:79085 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Lipodystrophy, Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Loss of gluteal subcutane... |
OMIM:604367 |
| 46,Xy Sex Reversal 4 |
|
Hypoplastic labia majora, Gonadal dysgenesis, Sex reversal, Hypergonadotropic hypogonadism, Hypop... |
OMIM:154230 |
| Bdv Syndrome |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:619326 |
| Lig4 Syndrome |
|
Pancytopenia, Hypothyroidism, Amenorrhea, Cryptorchidism, Micropenis, Thrombocytopenia |
OMIM:606593 |
| Classic Galactosemia |
|
Decreased fertility in females, Primary amenorrhea, Cryptorchidism, Secondary amenorrhea, Decreas... |
ORPHA:79239 |
| Vaginal Atresia |
|
Vaginal hematocele, Primary amenorrhea, Uterus didelphys, Vaginal atresia, Transverse vaginal sep... |
ORPHA:65681 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy |
OMIM:264270 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Decreased fertility, Decreased circulating progesterone, Polycystic ova... |
ORPHA:572333 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Secondary amenorrhea, Premature pubarche |
OMIM:612847 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia, Primary amenorrhea |
OMIM:191830 |
| Prolactinoma |
|
Irregular menstruation, Erectile dysfunction, Central adrenal insufficiency, Adrenocorticotropic ... |
ORPHA:2965 |
| Hemochromatosis, Type 2B |
|
Secondary amenorrhea, Anemia, Splenomegaly, Hypogonadism |
OMIM:613313 |
| Alpha-Heavy Chain Disease |
|
Premature ovarian insufficiency, Splenomegaly, Anemia |
ORPHA:100025 |
| Hymen, Imperforate |
|
Hydrocolpos, Amenorrhea, Hematocolpos, Imperforate hymen |
OMIM:237100 |
| Amed Syndrome, Digenic |
|
Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Adrenal hypoplasia, Anemia, Hypoplasia of t... |
OMIM:619151 |
| Hemochromatosis, Type 1 |
|
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Splenomegaly, Testicular atrophy, Impoten... |
OMIM:235200 |
| Gonadoblastoma |
|
Abnormality of the ovary, Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal cal... |
ORPHA:206484 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Pancreatiti... |
ORPHA:435651 |
| Frasier Syndrome |
|
Male pseudohermaphroditism, Ovarian gonadoblastoma, Gonadal dysgenesis, Primary amenorrhea |
OMIM:136680 |
| Interstitial Cystitis |
|
Abnormal vagina morphology, Abnormal labia morphology, Dyspareunia, Abnormality of the urethra, A... |
ORPHA:37202 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hypercholesterolemia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglycerid... |
OMIM:306000 |
| Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233400 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly |
OMIM:610539 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614839 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Micropenis |
OMIM:244200 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... |
OMIM:308700 |
| Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, H... |
OMIM:612526 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Central diabetes insipidus, Hypopituitarism, Increased circulating prolactin concentration, Adren... |
ORPHA:91354 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Blepharitis, Decreased HDL cholesterol concentration, Failure to thrive, Psoriasiform dermatitis,... |
OMIM:616834 |
| 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Cryptorchidism, Male pseudohermaphrod... |
ORPHA:752 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Primary amenorrhea, Septate vagina, Uterus didelphys, Aplasia of the vagin... |
OMIM:146255 |
| Mody |
|
Glycosuria, Exocrine pancreatic insufficiency, Large for gestational age, Neonatal hypoglycemia, ... |
ORPHA:552 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Abnormal labia majora morphology, Polycystic ovaries, Insulin-resistant diabetes mellitus, Decrea... |
ORPHA:435660 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus |
ORPHA:2578 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... |
ORPHA:276580 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia,... |
OMIM:246700 |
| Popliteal Pterygium Syndrome |
|
Hypoplastic labia majora, Small scrotum, Hypoplasia of the vagina, Cryptorchidism, Bifid scrotum,... |
OMIM:119500 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... |
ORPHA:276575 |
| Lead Poisoning |
|
Abnormal sperm morphology, Infertility, Decreased female libido, Decreased circulating osteocalci... |
ORPHA:330015 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligospermia |
OMIM:314300 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... |
ORPHA:478 |
| Asherman Syndrome |
|
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... |
ORPHA:137686 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Primary amenorrhea, Male pseudohermaphroditism, Ambiguous genitalia, Adre... |
OMIM:202110 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, A... |
ORPHA:1772 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Premature ovarian insufficiency |
ORPHA:2928 |
| Senior-Loken Syndrome |
|
Premature ovarian insufficiency |
ORPHA:3156 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Giant cell hepatitis, Intrahepatic cholest... |
OMIM:607765 |
| Pituitary Stalk Interruption Syndrome |
|
Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Primary ameno... |
ORPHA:95496 |
| Pituitary Gigantism |
|
Premature pubarche, Increased serum insulin-like growth factor 1, Amenorrhea, Pituitary prolactin... |
ORPHA:99725 |
| Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Polycystic ovaries, Hyperinsulinemia, Oligomenorrhea, Amenorrhea, ... |
ORPHA:528 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... |
OMIM:308750 |
| Androgen Insensitivity, Partial |
|
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... |
OMIM:312300 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis |
ORPHA:2183 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Male pseudohermaphroditism, Female external genitalia in individual with 46,XY karyotype, Inferti... |
OMIM:264300 |
| Ring Chromosome 21 Syndrome |
|
Azoospermia, Infertility, Diabetes insipidus, Amenorrhea |
ORPHA:1445 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Hepatosplenomegaly, Leukocytosis, Splenome... |
ORPHA:231222 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... |
ORPHA:90794 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased serum estradiol, Hypergonadotropic h... |
OMIM:604168 |
| Obesity |
|
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio |
OMIM:601665 |
| Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation, Reduced circulating prolactin concentration |
OMIM:264110 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Reduced intraabdominal adipose tissue, G... |
ORPHA:363400 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Lipoatrophy, Hepatomegaly, Diabetes mell... |
ORPHA:79084 |
| Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia, Testicular atrophy |
OMIM:613987 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... |
ORPHA:79299 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... |
ORPHA:90791 |
| Ovarian Dysgenesis 8 |
|
Hypoplastic labia majora, Elevated circulating luteinizing hormone level, Elevated circulating fo... |
OMIM:618187 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Female infertility, Premature ovarian insufficiency, Mitochondrial hypertrophy |
OMIM:619518 |
| Galactosemia I |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hemolytic anemia |
OMIM:230400 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Hypoglycemic seizures, Increased C-peptide level, Excessive insulin re... |
ORPHA:276556 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Premature ovarian insufficiency, Hy... |
OMIM:157640 |
| Galactokinase Deficiency |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Hyperinsulin... |
ORPHA:79237 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Lipodystrophy, Acute pancreatitis, Hepatic steatosis, Hyperinsulinemia, Hypercholesterolemia, Los... |
OMIM:151660 |
| Growth Hormone Insensitivity Syndrome |
|
Hypoglycemia, Insulin resistance, Diabetes insipidus, Hypercholesterolemia, Truncal obesity, Fail... |
ORPHA:181393 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Primary amenorrhea, Polycystic ovaries, Dysmenorrhea, Splenomegaly, Insulin-resistant diabetes me... |
ORPHA:79083 |
| Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea |
OMIM:266510 |
| Gapo Syndrome |
|
Oligospermia, Amenorrhea, Hypogonadism, Dysmenorrhea |
ORPHA:2067 |
| Potocki-Lupski Syndrome |
|
Hypothyroidism, Small for gestational age, Oral-pharyngeal dysphagia, Failure to thrive, Hypochol... |
OMIM:610883 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Delayed puberty |
OMIM:147950 |
| Testicular Agenesis |
|
Absent testis, Micropenis, Decreased serum testosterone concentration, Increased circulating gona... |
ORPHA:325124 |
| Aromatase Deficiency |
|
Primary amenorrhea, Cryptorchidism, Ambiguous genitalia, female, Enlarged polycystic ovaries, Mac... |
ORPHA:91 |
| Squalene Synthase Deficiency |
|
Elevated circulating methylsuccinic acid concentration, Increased circulating farnesol concentrat... |
OMIM:618156 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Hepatic steatosis, Flexion contracture, Hepatomegaly, Abnormal subcutaneous fat t... |
OMIM:212065 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatosplenomegaly, Primary testicular failure, Oligospermia, Anemia, Male infertility, Abnormal ... |
ORPHA:85450 |
| 49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, Azoospermia, Decreased serum testo... |
ORPHA:99330 |
| Premature Ovarian Failure 11 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomenorrhea |
OMIM:616946 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal exte... |
ORPHA:95699 |
| Tetragametic Chimerism |
|
Perineal hypospadias, Ovotestis, Cryptorchidism, Abnormality of the ovary, Micropenis, True herma... |
ORPHA:199310 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... |
ORPHA:289548 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... |
ORPHA:263458 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rickets, Reduced C-peptide le... |
ORPHA:2126 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hepatomegaly, Failure to thrive... |
ORPHA:369 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:600955 |
| Primary Lipodystrophy |
|
Menometrorrhagia, Polycystic ovaries, Splenomegaly, Type II diabetes mellitus, Pancreatitis |
ORPHA:90970 |
| Ovarian Dysgenesis 3 |
|
Primary amenorrhea |
OMIM:614324 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Delayed puberty, Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormon... |
ORPHA:280679 |
| Kennerknecht Syndrome |
|
Hypoplasia of the uterus, Agonadism |
OMIM:600908 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hepatosple... |
ORPHA:300298 |
| Congenital Factor Vii Deficiency |
|
Menorrhagia, Ovarian cyst |
ORPHA:327 |
| Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Increased serum insulin-like growth factor 1, Pituitary prolactin cell ad... |
OMIM:102200 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Hypogonadism, Testicular atrophy |
OMIM:160900 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... |
OMIM:256450 |
| Whim Syndrome 1 |
|
Abnormal morphology of female internal genitalia, Abnormality of female external genitalia, Neutr... |
OMIM:193670 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Amenorrhea, Erectile dysfunction, Dec... |
ORPHA:465508 |
| Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Decreased fertility, Pancytopenia, Irregular menstruation, Goiter,... |
ORPHA:562 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the scrotum, Uterine neoplasm, Ovarian neoplasm, Anemia, Precocious puberty, Metrorrh... |
ORPHA:370348 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Premature ovarian insufficiency, Abnormality of the thyroid gland, Diabetes mellitus, Hypogonadism |
OMIM:609286 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, Polycystic ovaries |
OMIM:616831 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Cholestasis, Jaundice, Failure t... |
OMIM:617156 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypothyroidism, Schistocytosis, Circulating nucleated red blood cells, Reticulocytosis, Decreased... |
OMIM:613673 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... |
OMIM:601820 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Micropenis, Male pseudohermaphroditism, Bifid scrotum, Ambiguous genitalia, Methemoglobinemia, Hy... |
OMIM:250790 |
| Leopard Syndrome 1 |
|
Cryptorchidism, Micropenis, Aplasia of the ovary, Delayed menarche, Delayed puberty, Hypospadias,... |
OMIM:151100 |
| Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... |
ORPHA:411593 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Anemia, Thrombocytopenia |
ORPHA:3319 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Polycystic ovaries, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Diabetes mellitus, Pancreat... |
ORPHA:2348 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Small pituitary gland, Hypogonadotropic hypogonadism, Small scrotum, Premature pubarche, Infertil... |
ORPHA:398079 |
| Renal Cysts And Diabetes Syndrome |
|
Epididymal cyst, Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Maturity-onset diabete... |
OMIM:137920 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Increased subcutaneous truncal adipos... |
ORPHA:2457 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Azoospermia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadis... |
OMIM:300845 |
| Carney Complex |
|
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Ovarian carcinom... |
ORPHA:1359 |
| Chylomicron Retention Disease |
|
Hepatic steatosis, Increased hepatocellular lipid droplets, Failure to thrive, Elevated hepatic t... |
ORPHA:71 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Wolfram Syndrome 1 |
|
Hypothyroidism, Sideroblastic anemia, Diabetes insipidus, Megaloblastic anemia, Testicular atroph... |
OMIM:222300 |
| Tsh-Secreting Pituitary Adenoma |
|
Infertility, Irregular menstruation, Euthyroid hyperthyroxinemia, Erectile dysfunction, Central a... |
ORPHA:91347 |
| Rin2 Syndrome |
|
Cryptorchidism, Premature ovarian insufficiency, Hypergonadotropic hypogonadism |
ORPHA:217335 |
| Richards-Rundle Syndrome |
|
Primary amenorrhea, Hypogonadism, Absence of secondary sex characteristics |
OMIM:245100 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypothyroidism, Chordee, Miscarriage, Bilateral cryptorchidism, Premature ovarian insufficiency, ... |
ORPHA:96179 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias, Clitoral hypertrophy |
OMIM:309801 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Primary adrenal insufficiency, Female hypo... |
OMIM:240300 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Decreased body weight, Diabetes insipidus, Elevated circulating creatine ki... |
ORPHA:96180 |
| Prune Belly Syndrome |
|
Patent ductus arteriosus, Cryptorchidism, Abnormality of the uterus, Congenital posterior urethra... |
ORPHA:2970 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Primary amenorrhea, Fused labia minora, Increased size of the clitoris, Ambiguous genitalia, female |
ORPHA:2975 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Hypoglycemia, Prolonged neonatal jaundice, Congenit... |
ORPHA:446 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hyperinsulinemia, Sple... |
OMIM:613327 |
| Burkitt Lymphoma |
|
Abnormality of the ovary, Decreased proportion of CD4-positive helper T cells, Abnormality of the... |
ORPHA:543 |
| 46,Xx Sex Reversal 1 |
|
Ovotestis, Azoospermia, Elevated circulating luteinizing hormone level, True hermaphroditism, Ele... |
OMIM:400045 |
| Alg12-Cdg |
|
Recurrent pneumonia, Hyponatremia, Chronic rhinitis, Recurrent hypoglycemia, Abnormal adipose tis... |
ORPHA:79324 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Hypothyroidism, Dysmenorrhea, Cryptorchidism, Bifid scrotum, Microphallus, Hypospadias, Abnormali... |
ORPHA:397590 |
| Acrodysostosis |
|
Cryptorchidism, Abnormality of female external genitalia, Irregular menstruation, Hypogonadism |
ORPHA:950 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Cryptorchidism, Microcytic anemia, Hypospadias, HbH hemoglobin |
ORPHA:98791 |
| Ciliary Dyskinesia, Primary, 40 |
