Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Ovarian neoplasm, Neoplasm of the pancreas, Breast carcinoma, Abnormal fallopian tube morphology,... |
ORPHA:145 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Ovarian Cancer |
|
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma |
OMIM:167000 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Serrated Polyposis Syndrome |
|
Colorectal polyposis, Ovarian neoplasm, Bladder carcinoma, Hodgkin lymphoma, Adenomatous colonic ... |
ORPHA:157798 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Breast carcinoma, Ovarian carcinoma |
OMIM:613399 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
46,Xy Sex Reversal 10 |
|
Sex reversal, Gonadoblastoma, Dysgerminoma, Micropenis, Ambiguous genitalia, Decreased testicular... |
OMIM:616425 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... |
OMIM:615723 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
Li-Fraumeni Syndrome |
|
Ovarian neoplasm, Acute lymphoblastic leukemia, Astrocytoma, Thyroid carcinoma, Choriocarcinoma, ... |
ORPHA:524 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... |
ORPHA:206484 |
Isochromosomy Yp |
|
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... |
ORPHA:98797 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Subependymoma |
|
Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the breast, Ependymoma, Neoplasm of the liver... |
ORPHA:251639 |
Ependymoma |
|
Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the breast, Ependymoma, Neoplasm of the liver... |
ORPHA:251636 |
Maffucci Syndrome |
|
Neoplasm of the parathyroid gland, Ovarian neoplasm, Astrocytoma, Goiter, Neoplasm of the adrenal... |
ORPHA:163634 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
Familial Multinodular Goiter |
|
Colorectal polyposis, Ovarian neoplasm, Testicular seminoma, Thyroid carcinoma, Sertoli cell neop... |
ORPHA:276399 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Goiter, Multinodular goiter, Embryonal rhabdomyosarcoma, Ovarian thecoma, Thyroid nodule, Nephrob... |
OMIM:180295 |
Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:50944 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Oocyte Maturation Defect 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 |
|
Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endometrial carcinoma |
OMIM:614337 |
Frasier Syndrome |
|
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis, Primary amenorrhea |
OMIM:136680 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... |
ORPHA:91348 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
N Syndrome |
|
Hypospadias, Abnormality of chromosome stability, Leukemia, Neoplasm, Cryptorchidism |
OMIM:310465 |
Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sex reversal, Gonadoblastoma, Chordee, Dysgerminoma, Clitoral hypertrophy |
OMIM:613762 |
Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Familial Hyperprolactinemia |
|
Menorrhagia, Hemorrhagic ovarian cyst, Infertility, Oligomenorrhea, Amenorrhea, Female hypogonadism |
ORPHA:397685 |
Desmoplastic Small Round Cell Tumor |
|
Ovarian neoplasm, Hepatomegaly, Neoplasm of the lung, Neoplasm of the central nervous system, Neo... |
ORPHA:83469 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Dif... |
ORPHA:314478 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Ovarian neoplasm, Neoplasm of the breast, Visceral angiomatosis, Lymphangioma, Neoplasm of the th... |
ORPHA:137608 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia, Hepatic steatosis |
OMIM:615703 |
Fanconi Anemia, Complementation Group S |
|
Breast carcinoma, Ovarian neoplasm, Anemia, Chromosome breakage |
OMIM:617883 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Neoplasm of the breast, Neoplasm, Neoplasm of the respiratory system |
ORPHA:2221 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries, Hepatocellular adenoma |
OMIM:142330 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
Werner Syndrome |
|
Ovarian neoplasm, Secondary amenorrhea, Thyroid carcinoma, Meningioma, Acral lentiginous melanoma... |
ORPHA:902 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the lung, Abnormality of the gallbladder, Stomach cancer, Neoplasm of the nose, Neopl... |
ORPHA:2869 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... |
OMIM:612310 |
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 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... |
ORPHA:90796 |
Cowden Syndrome 1 |
|
Meningioma, Transitional cell carcinoma of the bladder, Goiter, Carcinoma, Ovarian cyst, Thyroid ... |
OMIM:158350 |
Ovarian Fibroma |
|
Abnormality of the ovary, Odontogenic keratocysts of the jaw, Basal cell carcinoma, Ovarian fibro... |
ORPHA:314473 |
Bloom Syndrome |
|
Decreased fertility in females, Chromosome breakage, Type II diabetes mellitus, Abnormality of ch... |
OMIM:210900 |
Peripheral Primitive Neuroectodermal Tumor |
|
Ovarian neoplasm, Brain neoplasm, Neoplasm of the pancreas, Metrorrhagia, Pancreatitis, Periphera... |
ORPHA:370348 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... |
OMIM:228300 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating growth hormone conc... |
ORPHA:90301 |
Carney Complex |
|
Oligospermia, Thyroid carcinoma, Gonadal neoplasm, Sertoli cell neoplasm, Neoplasm of the pharynx... |
ORPHA:1359 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Breast carcinoma, Ab... |
ORPHA:1916 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28, Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Esophageal neoplasm, Uterine leiomyoma, Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Va... |
ORPHA:523 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Hepatic ste... |
ORPHA:91 |
Xp22.3 Microdeletion Syndrome |
|
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased fertility |
ORPHA:1643 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size |
ORPHA:1875 |
Denys-Drash Syndrome |
|
Ovarian gonadoblastoma, True hermaphroditism, Ambiguous genitalia, female, Ambiguous genitalia, m... |
OMIM:194080 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614897 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Neoplasm of the skin, Juvenile gastrointestinal polyposis, Astrocytoma, Neo... |
ORPHA:480536 |
Lynch Syndrome |
|
Ovarian neoplasm, Neuroblastoma, Neoplasm of the rectum, Hepatocellular carcinoma, Glioblastoma m... |
ORPHA:144 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
Adrenal Hypoplasia, Congenital |
|
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... |
OMIM:300200 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... |
ORPHA:454840 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Estrogen Resistance Syndrome |
|
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... |
ORPHA:785 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Neoplasm of the liver, Breast carcinoma, Hepatosplenomegaly, Ovarian c... |
ORPHA:1333 |
Cowden syndrome 3 |
|
Renal cell carcinoma, Neoplasm of the thyroid gland, Uterine leiomyoma |
OMIM:615106 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... |
OMIM:615234 |
Ectopic Aldosterone-Producing Tumor |
|
Ovarian neoplasm, Renal cortical adenoma, Decreased circulating renin level, Glucocortocoid-insen... |
ORPHA:231632 |
Ataxia-Telangiectasia |
|
Type II diabetes mellitus, Abnormality of chromosome stability, Polycystic ovaries, Neoplasm, Abn... |
ORPHA:100 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility |
ORPHA:481 |
Lhermitte-Duclos Disease |
|
Trichilemmoma, Ovarian neoplasm, Fibroadenoma of the breast, Neoplasm of the thyroid gland |
ORPHA:65285 |
Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... |
OMIM:618086 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Pure red cell aplasia, Anemia, Hypogonadism |
OMIM:618165 |
Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Oligomenorrhea, Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Po... |
ORPHA:280356 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Cowden-Like syndrome |
|
Endometrial carcinoma, Breast carcinoma, Papillary thyroid carcinoma, Uterine leiomyoma |
OMIM:612359 |
Testicular Germ Cell Tumor |
|
Azoospermia, Choriocarcinoma, Embryonal neoplasm, Teratoma |
OMIM:273300 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
Fragile X Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Leukemia, Anemia, Prolonged G2 phase of cell cycle, Chromosomal breakage induced by ... |
OMIM:227650 |
Insulin-Resistance Syndrome Type B |
|
Abnormal salivary gland morphology, Increased serum testosterone level, Type II diabetes mellitus... |
ORPHA:2298 |
Legius Syndrome |
|
Non-small cell lung carcinoma, Ovarian neoplasm, Vestibular Schwannoma, Male urethral meatus sten... |
ORPHA:137605 |
Cowden Syndrome |
|
Neoplasm of the skin, Meningioma, Goiter, Endometrial carcinoma, Papilloma, Conjunctival hamartom... |
ORPHA:201 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Leukemia, Anemia, Prolonged G2 phase of cell cycle, Chromosomal breakage induced by ... |
OMIM:600901 |
47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... |
ORPHA:8 |
Immunodeficiency 54 |
|
Chromosome breakage, Hepatomegaly, Adrenal insufficiency, Lymphoproliferative disorder, Splenomeg... |
OMIM:609981 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... |
ORPHA:90797 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Amenorrhea, Azoospermia, Hypogonadotr... |
OMIM:235200 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Uterine leiomyoma, Renal cell carcinoma, Uterine leiomyosarcoma, Cutaneous leiomyosarcoma, Cutane... |
OMIM:150800 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:300511 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... |
OMIM:611548 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... |
OMIM:300510 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... |
ORPHA:91351 |
Spermatogenic Failure 4 |
|
Recurrent spontaneous abortion, Azoospermia |
OMIM:270960 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Micropenis, Anemia, Abnormality of chromosome stability |
OMIM:614083 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Secondary amenorrhea, Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadi... |
ORPHA:3085 |
Hydatidiform Mole, Recurrent, 4 |
|
Recurrent spontaneous abortion, Female infertility |
OMIM:618432 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Oligospermia, Cryptorchidism |
OMIM:314300 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal penis morphology, Neoplasm of the breast, Goiter, Abnormality of the menstrual cycle, Po... |
ORPHA:457059 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, ... |
OMIM:602390 |
Oocyte Maturation Defect 10 |
|
Female infertility, Spontaneous abortion |
OMIM:619176 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Long penis, Insulin-resistant diabetes mellitus, Enlarged ova... |
ORPHA:769 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Leukemia, Anemia, Prolonged G2 phase of cell cycle, Chromosomal breakage induced by ... |
OMIM:227645 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... |
ORPHA:79084 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Hemorrhagic ovarian cyst, Increased circulating gonadotropin ... |
ORPHA:64739 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... |
ORPHA:199310 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Female infertility, Mitochondrial hypertrophy, Premature ovarian insufficiency |
OMIM:619518 |
Neuroendocrine Neoplasm Of Appendix |
|
Ovarian neoplasm, Hepatomegaly, Appendiceal mucinous neoplasm, Increased serum serotonin, Primary... |
ORPHA:100079 |
Perrault Syndrome 6 |
|
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... |
OMIM:617565 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Neutropenia, Abnormality of chromosome stability, Leukemia, Anemia, Thrombocytopenia |
OMIM:614082 |
Rudiger Syndrome |
|
Bicornuate uterus, Micropenis, Ovarian cyst |
OMIM:268650 |
Myotonic Dystrophy 2 |
|
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... |
OMIM:602668 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia |
OMIM:618300 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... |
OMIM:614841 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Oligospermia, Hypospadias, Increased circulating progesterone, Adrenal hyperplasia, Fused labia m... |
ORPHA:95699 |
Muir-Torre Syndrome |
|
Neoplasm of the skin, Malignant genitourinary tract tumor, Neoplasm of the stomach, Endometrial c... |
ORPHA:587 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... |
OMIM:194072 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit... |
ORPHA:2795 |
Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
Leydig Cell Hypoplasia |
|
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... |
ORPHA:755 |
Ovarian Dysgenesis 9 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... |
OMIM:619665 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Lig4 Syndrome |
|
Hepatomegaly, Leukocytosis, Type II diabetes mellitus, Abnormality of chromosome stability, Acute... |
ORPHA:99812 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Basal Cell Nevus Syndrome |
|
Cardiac rhabdomyoma, Rhabdomyoma, Odontogenic keratocysts of the jaw, Basal cell carcinoma, Ovari... |
OMIM:109400 |
Frasier Syndrome |
|
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... |
ORPHA:347 |
Premature Ovarian Failure 18 |
|
Secondary amenorrhea, Decreased antimullerian hormone level, Elevated circulating follicle stimul... |
OMIM:619203 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Thrombocytopenia, Pancytopenia, Cirrhosis |
OMIM:613987 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Burkitt Lymphoma |
|
Abnormality of the ovary, Abnormality of the spleen, Abnormality of the liver, Neoplasm of the or... |
ORPHA:543 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... |
ORPHA:432 |
Fanconi Anemia, Complementation Group D1 |
|
T-cell acute lymphoblastic leukemias, Acute myeloid leukemia, Chromosomal breakage induced by cro... |
OMIM:605724 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia |
ORPHA:2578 |
Cowden Syndrome 6 |
|
Meningioma, Transitional cell carcinoma of the bladder, Goiter, Ovarian cyst, Thyroid adenoma, Br... |
OMIM:615109 |
Premature Ovarian Failure 1 |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:311360 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Fanconi Anemia, Complementation Group D2 |
|
Neutropenia, Annular pancreas, Leukemia, Anemia, Prolonged G2 phase of cell cycle, Chromosomal br... |
OMIM:227646 |
Crouzon Syndrome |
|
Dysgerminoma |
OMIM:123500 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Secondary amenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hypergonadotropic ... |
OMIM:268020 |
Leprechaunism |
|
Hepatomegaly, Central hypothyroidism, Long penis, Enlarged ovaries, Labial hypertrophy, Clitoral ... |
ORPHA:508 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... |
OMIM:618841 |
Opitz Gbbb Syndrome |
|
Hypospadias, Bifid scrotum, Enlarged ovaries, Bicornuate uterus, Thyroglossal cyst, Cryptorchidis... |
ORPHA:2745 |
Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Rectal polyposis, Astrocytoma, Neoplasm of the stomach, Adenomatous colonic... |
ORPHA:220460 |
Opsoclonus-Myoclonus Syndrome |
|
Neuroblastoma, Neoplasm of the lung, Neoplasm, Breast carcinoma, Ovarian teratoma, Small cell lun... |
ORPHA:1183 |
Premature Ovarian Failure 9 |
|
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615724 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Genital neoplasm, Neoplasm of the lung, Neoplasia of the pleura, Soft tissue neoplasm, Neoplasm, ... |
ORPHA:2126 |
Apert Syndrome |
|
Ovarian neoplasm |
ORPHA:87 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Testicular adrenal rest tumor, Increased serum testosterone level, Increased circulating androste... |
ORPHA:90795 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic st... |
ORPHA:79085 |
Asherman Syndrome |
|
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
Fanconi Anemia, Complementation Group F |
|
Leukopenia, Decreased response to growth hormone stimulation test, Anemia, Chromosomal breakage i... |
OMIM:603467 |
Generalized Glucocorticoid Resistance Syndrome |
|
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen... |
ORPHA:786 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries, Diabetes mellitus |
OMIM:608709 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... |
ORPHA:1227 |
Atypical Werner Syndrome |
|
Ovarian neoplasm, Neoplasm of the skin, Secondary amenorrhea, Meningioma, Insulin-resistant diabe... |
ORPHA:79474 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Chromosomal Instability With Tissue-Specific Radiosensitivity |
|
Abnormality of chromosome stability, Neoplasm |
OMIM:215510 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Cirrh... |
OMIM:604367 |
Bloom Syndrome |
|
Oligospermia, Neoplasm of the skin, Acute lymphoblastic leukemia, Malignant genitourinary tract t... |
ORPHA:125 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... |
OMIM:612964 |
Cowden Syndrome 5 |
|
Meningioma, Transitional cell carcinoma of the bladder, Goiter, Ovarian cyst, Thyroid adenoma, Br... |
OMIM:615108 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Neoplasm of the skin, Non-medullary thyroid carcinoma, Endometrial carcinoma,... |
ORPHA:273 |
Gardner Syndrome |
|
Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ... |
ORPHA:79665 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Hepatomegaly, Anemia, Hypogonadism, Abnormal testis morphology, Primary testicular ... |
ORPHA:85450 |
Mccune-Albright Syndrome |
|
Increased serum testosterone level, Goiter, Increased circulating cortisol level, Hepatitis, Cuta... |
ORPHA:562 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia |
OMIM:300985 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf... |
OMIM:110100 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Premature... |
OMIM:618723 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pancreatit... |
ORPHA:435651 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Hepatomegaly, Infertility, Cholangiocarcinoma, Hepatocellular carcinoma, Amen... |
ORPHA:465508 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
Proteus Syndrome |
|
Ovarian neoplasm, Macroorchidism, Neoplasm of the lung, Meningioma, Neoplasm of the central nervo... |
ORPHA:744 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
Lead Poisoning |
|
Oligospermia, Abnormal sperm morphology, Decreased circulating osteocalcin level, Infertility, Im... |
ORPHA:330015 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Preeclampsia |
|
Elevated hepatic transaminase, Abnormality of the hepatic vasculature, Type I diabetes mellitus, ... |
ORPHA:275555 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Precocious puberty in females, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Cirr... |
ORPHA:528 |
Peutz-Jeghers Syndrome |
|
Biliary tract abnormality, Gastrointestinal carcinoma, Neoplasm of the pancreas, Ovarian cyst, Br... |
OMIM:175200 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Fanconi Anemia, Complementation Group N |
|
Neuroblastoma, Chromosomal breakage induced by crosslinking agents, Aplastic anemia, Nephroblasto... |
OMIM:610832 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Gapo Syndrome |
|
Oligospermia, Dysmenorrhea, Amenorrhea, Hemangioma, Hypogonadism |
ORPHA:2067 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic st... |
ORPHA:435660 |
Meningioma |
|
Neoplasm of the skin, Hypothalamic hypothyroidism, Decreased circulating follicle stimulating hor... |
ORPHA:2495 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Muir-Torre Syndrome |
|
Sebaceous gland carcinoma, Malignant genitourinary tract tumor, Benign gastrointestinal tract tum... |
OMIM:158320 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Adrenal insufficiency, Anisopoikilocytosis, Elevated hepatic iron concentration, Azoospermia, Abn... |
ORPHA:300298 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Secondary amenorrhea, Maternal diabetes, Dysmenorrhea, Oligomenorrhea, Insulin-resi... |
ORPHA:79083 |
Perrault Syndrome 4 |
|
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... |
OMIM:615300 |
46,Xx Sex Reversal 1 |
|
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... |
OMIM:400045 |
Distal Monosomy 10P |
|
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries |
ORPHA:1580 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypospadias, Palmoplantar hyperhidrosis, Carcinoma, Laryngeal carcinoma, External genital hypopla... |
OMIM:610644 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... |
ORPHA:90791 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Endometrial carcinom... |
ORPHA:447877 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia |
OMIM:601076 |
Non-Functioning Pituitary Adenoma |
|
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... |
ORPHA:91349 |
Congenital Factor Vii Deficiency |
|
Menorrhagia, Ovarian cyst |
ORPHA:327 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Leukemia, Abnormality of the thymus, Abnormality of chromosome stability, Chromosome breakage |
OMIM:208910 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Oligomen... |
ORPHA:370 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia |
OMIM:616950 |
Satoyoshi Syndrome |
|
Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Abnormality of the uterus, Nephrog... |
ORPHA:3130 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Streak ovary, Elevated circulating ... |
ORPHA:572333 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 5 |
|
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma |
OMIM:614350 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Hypogonadism, Micropenis, Hypergonadotropic hypogonadism, Th... |
OMIM:300514 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Secondary amenorrhea, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Splenomegaly,... |
ORPHA:2348 |
Prolactinoma |
|
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... |
ORPHA:2965 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Aplasia/hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Abse... |
ORPHA:2232 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Fanconi Anemia, Complementation Group I |
|
Chromosomal breakage induced by crosslinking agents, Decreased response to growth hormone stimula... |
OMIM:609053 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Renal angiomyolipoma,... |
ORPHA:276152 |
Donohue Syndrome |
|
Hepatic fibrosis, Long penis, Clitoral hypertrophy, Pancreatic islet-cell hyperplasia, Cholestasi... |
OMIM:246200 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Secondary growth hormone deficiency, Abse... |
ORPHA:2235 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia, Pancreatitis, Splenomegaly, Cirr... |
ORPHA:90970 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Diabetes mell... |
OMIM:222300 |
Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Basal cell carcinoma, Cardiac fibroma, Ovar... |
ORPHA:77301 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Primary... |
ORPHA:247768 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Portal fibrosis, Hepatic fibrosis, Oligomenorrhea, Polycystic ovaries... |
ORPHA:264580 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Hepatic fibrosis, Hepatocellular carcinoma, Oligomenorrhea, Polycysti... |
ORPHA:79240 |
Familial Adenomatous Polyposis |
|
Neoplasm of the gallbladder, Astrocytoma, Neoplasm of the adrenal gland, Cholangiocarcinoma, Aden... |
ORPHA:733 |
Hereditary Mixed Polyposis Syndrome |
|
Colorectal polyposis, Rectal polyposis, Thyroid carcinoma, Neoplasm of the rectum, Adenomatous co... |
ORPHA:157794 |
Familial Colorectal Cancer Type X |
|
Neuroblastoma, Neoplasm of the rectum, Stomach cancer, Hepatocellular carcinoma, Glioblastoma mul... |
ORPHA:440437 |
Transcobalamin Deficiency |
|
Neutropenia, Abnormality of chromosome stability, Lymphopenia, Pancytopenia, Thrombocytopenia |
ORPHA:859 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Oligospermia, Breast hypoplasia, Clitoral hypoplasia, Diabetes mellitus |
OMIM:614813 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... |
OMIM:157640 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
Porokeratosis 1, Multiple Types |
|
Neoplasm of the skin, Abnormality of chromosome stability |
OMIM:175800 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Right ventricular hypertrophy, Left ventricular hypertrophy, Micropenis... |
ORPHA:335 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating aldosterone level, Testicular adrenal rest tumor, Adrenal insufficiency, Co... |
ORPHA:361 |
Familial Adenomatous Polyposis 1 |
|
Adrenocortical carcinoma, Osteoma, Astrocytoma, Adrenocortical adenoma, Adenomatous colonic polyp... |
OMIM:175100 |
Fanconi Anemia |
|
Hypospadias, Pyridoxine-responsive sideroblastic anemia, Myelodysplasia, Abnormality of chromosom... |
ORPHA:84 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Hashimoto thyroiditis, Carcinoma, Pituitary adenoma, Carcinoid tumor,... |
OMIM:610755 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Astrocytoma, Insulin-resistant diabetes mellitus, Polycystic ovaries, Lymphoma, Cir... |
ORPHA:79086 |
Luscan-Lumish Syndrome |
|
Irregular menstruation, Polycystic ovaries |
OMIM:616831 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:305400 |
Ring Chromosome 12 Syndrome |
|
Uterine leiomyoma, Hemangioma, Hypothyroidism, Cryptorchidism, Breast hypoplasia, Glandular hypos... |
ORPHA:1439 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Ovarian serous cystadenoma, Multiple lipomas, Nephroblastoma, Hydrocele testis, Enlarged kidney |
ORPHA:276280 |
Fibrous Dysplasia Of Bone |
|
Hyperpituitarism, Precocious puberty in females, Thyroid carcinoma, Neoplasm of the breast, Incre... |
ORPHA:249 |
Cystic Echinococcosis |
|
Hepatomegaly, Biliary tract obstruction, Hepatic cysts, Cholestatic liver disease, Elevated hepat... |
ORPHA:400 |
Limbic Encephalitis With Nmda Receptor Antibodies |
|
Neuroblastoma, Neoplasm of the lung, Neoplasm of the breast, Hodgkin lymphoma, Neoplasm of the th... |
ORPHA:217253 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Hemangioma, Polycystic ovaries, Exostoses, Splenomegaly, Abnormality of the p... |
ORPHA:2969 |
Cancer-Associated Retinopathy |
|
Cutaneous melanoma, Malignant genitourinary tract tumor, Neoplasm of the breast, Hodgkin lymphoma... |
ORPHA:71505 |
Endometrial Cancer |
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Endometrial carcinoma |
OMIM:608089 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
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Polycystic ovaries, Gonadal dysgenesis |
ORPHA:1770 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertro... |
OMIM:269700 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
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Esophageal neoplasm, Diffuse leiomyomatosis, Abnormality of the female genitalia, Fibroma, Vagina... |
ORPHA:1018 |
Primary Ciliary Dyskinesia |
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Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertro... |
OMIM:608594 |
Bardet-Biedl Syndrome 1 |
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Abnormality of the ovary, Hepatic fibrosis, Hypogonadism, Vaginal atresia, Micropenis, Nephrogeni... |
OMIM:209900 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Elevated circulating parathyroid hormone level, Thyroid carcinoma, Uterine leiomyoma, Pancreatic ... |
ORPHA:99880 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Hepatomegaly, Secondary amenorrhea, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Splenomegaly,... |
ORPHA:280365 |
Lesch-Nyhan Syndrome |
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Testicular atrophy, Megaloblastic anemia |
OMIM:300322 |
Parathyroid Carcinoma |
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Elevated circulating parathyroid hormone level, Thyroid carcinoma, Parathyroid carcinoma, Uterine... |
ORPHA:143 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Thyroid carcinoma, Meningioma, Neoplasm of the breast, Neoplasm of the adrenal cortex, Visceral a... |
ORPHA:109 |
Turcot Syndrome With Polyposis |
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Astrocytoma, Thyroid carcinoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... |
ORPHA:99818 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Abnormality of the ovary, Secondary amenorrhea, Type II diabetes mellitus, Hepatic fibrosis, Gona... |
ORPHA:99413 |
Turner Syndrome |
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Abnormality of the ovary, Secondary amenorrhea, Type II diabetes mellitus, Hepatic fibrosis, Gona... |
ORPHA:881 |
Monosomy X |
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Abnormality of the ovary, Secondary amenorrhea, Type II diabetes mellitus, Hepatic fibrosis, Gona... |
ORPHA:99226 |
Mosaic Monosomy X |
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Abnormality of the ovary, Secondary amenorrhea, Type II diabetes mellitus, Hepatic fibrosis, Gona... |
ORPHA:99228 |
Hypoplasminogenemia |
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Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
Tetrasomy 9P |
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Oligospermia, Infertility, Absent gallbladder, Micropenis, Biliary atresia, Cryptorchidism, Pilom... |
ORPHA:3310 |
Nijmegen Breakage Syndrome |
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Abnormality of chromosome stability, Rhabdomyosarcoma, Acute leukemia, Neoplasm, Lymphoma, B-cell... |
ORPHA:647 |
Lipodystrophy, Familial Partial, Type 2 |
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Hepatomegaly, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic steatosis, Hyperin... |
OMIM:151660 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Nodular goiter, Polycystic ovaries, Premature thelarche, Type I diabetes mellitus |
ORPHA:371428 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hepatomegaly, Menorrhagia, Hepatocellular carcinoma, Increased hepatic glycogen content, Polycyst... |
ORPHA:79259 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Adrenocortical carcinoma, Adrenocortical cytomegaly, Gonadoblastoma, Cardiomegaly, ... |
OMIM:130650 |
Infantile Systemic Hyalinosis |
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Abnormality of the adrenal glands, Polycystic ovaries, Aplasia/Hypoplasia of the thymus |
ORPHA:2176 |
Icf Syndrome |
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Abnormality of neutrophils, Abnormality of chromosome stability, Anemia, Lymphopenia |
ORPHA:2268 |
Orofaciodigital Syndrome I |
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Pancreatic cysts, Hepatic fibrosis, Hypothalamic hamartoma, Hepatic cysts, Ovarian cyst |
OMIM:311200 |
Chromosome 17Q12 Deletion Syndrome |
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Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Elevated hep... |
OMIM:614527 |
Riddle Syndrome |
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Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Hypospadias, Bifid scrotum, Chordee, Vesicovaginal fistula, Labial hypoplasia, Polycystic ovaries... |
OMIM:201750 |
X-Linked Intellectual Disability, Snyder Type |
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Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism |
ORPHA:3063 |
Alström Syndrome |
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Oligospermia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concentra... |
ORPHA:64 |
Cartilage-Hair Hypoplasia |
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Anemia, Hepatomegaly, Neutropenia, Abnormality of chromosome stability |
ORPHA:175 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Polycystic ovaries, Cardiomegaly |
ORPHA:137675 |
Ovarian Dysgenesis 4 |
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Primary amenorrhea |
OMIM:616185 |
Williams Syndrome |
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Type II diabetes mellitus, Urethral stenosis, Functional abnormality of male internal genitalia, ... |
ORPHA:904 |