| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I |
ORPHA:488191 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Female infertility, Oocyte maturation arrest |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| 46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Gestational Choriocarcinoma |
|
Choriocarcinoma, Trophoblastic tumor, Neoplasm, Metrorrhagia |
ORPHA:99926 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:619245 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia |
ORPHA:397685 |
| Testicular Germ Cell Tumor |
|
Choriocarcinoma, Azoospermia, Embryonal neoplasm, Teratoma |
OMIM:273300 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility |
OMIM:619009 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Primary amenorrhea |
OMIM:300604 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Hyperprolactinemia |
|
Oligomenorrhea, Female infertility, Menorrhagia |
OMIM:615555 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
| Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
| Gonadoblastoma |
|
Gonadoblastoma |
OMIM:424500 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea |
OMIM:613546 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Premature Ovarian Failure 22 |
|
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:620548 |
| Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... |
ORPHA:137686 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
| Testicular Germ Cell Tumor 1 |
|
Germ cell neoplasia |
OMIM:300228 |
| Premature Ovarian Failure 13 |
|
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea |
OMIM:617442 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... |
OMIM:228300 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Oligomenorrhea, Polycystic ovaries |
ORPHA:280356 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia |
ORPHA:2795 |
| Rudiger Syndrome |
|
Micropenis, Bicornuate uterus, Ovarian cyst |
OMIM:268650 |
| Premature Ovarian Failure 6 |
|
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia... |
OMIM:612310 |
| Functioning Gonadotropic Adenoma |
|
Impotence, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation ... |
ORPHA:91348 |
| Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... |
ORPHA:157798 |
| Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... |
OMIM:611548 |
| Premature Ovarian Failure 20 |
|
Female infertility, Secondary amenorrhea |
OMIM:619938 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Aplasi... |
OMIM:277000 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Secondary amenorrhea, Hypergonadot... |
ORPHA:3085 |
| Teratoma, Pineal |
|
Teratoma |
OMIM:273120 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus, Seco... |
OMIM:300510 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries |
OMIM:608709 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Polycystic ovaries |
ORPHA:90301 |
| Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism |
|
Secondary amenorrhea, Hypergonadotropic hypogonadism, Polycystic ovaries |
OMIM:268020 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Polycystic ovaries |
ORPHA:79084 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Elevated circulating lu... |
ORPHA:90793 |
| Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... |
OMIM:612885 |
| Congenital Factor Vii Deficiency |
|
Menorrhagia, Ovarian cyst |
ORPHA:327 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Polycystic ovaries |
ORPHA:79085 |
| Estrogen Resistance |
|
Breast aplasia, Primary amenorrhea, Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased testicular size, De... |
ORPHA:90796 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Aplasia of the ovary, Primary amenorrhea |
OMIM:614324 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
| Li-Fraumeni Syndrome |
|
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... |
OMIM:151623 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Primary amenorrhea, Oligomenorrhea, Polycystic ovaries |
OMIM:604367 |
| Distal Deletion 10P |
|
Hypoplasia of penis, Cryptorchidism, Polycystic ovaries |
ORPHA:1580 |
| Premature Ovarian Failure 9 |
|
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... |
OMIM:615724 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Li-Fraumeni Syndrome |
|
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... |
ORPHA:524 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Polycystic ovaries |
ORPHA:435651 |
| Congenital Generalized Lipodystrophy |
|
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Polycystic... |
ORPHA:528 |
| Currarino Syndrome |
|
Bifid scrotum, Male pseudohermaphroditism, Hypoplasia of penis, Hypospadias, Sacrococcygeal teratoma |
ORPHA:1552 |
| Ovarian Dysgenesis 10 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Hypoplasia of the ovary, Elevated c... |
OMIM:619834 |
| 46,Xy Sex Reversal 1 |
|
Abnormal male external genitalia morphology, Gonadal dysgenesis, Abnormal female external genital... |
OMIM:400044 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Oligomenorrhea, Abnormal labia majora morphology |
ORPHA:435660 |
| Premature Ovarian Failure 21 |
|
Precocious puberty in females, Streak ovary, Elevated circulating follicle stimulating hormone le... |
OMIM:620311 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... |
ORPHA:206484 |
| Premature Ovarian Failure 8 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:615723 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty, Irregular menstruation, Clitoral hypertrophy, Long penis, Ambiguous genitalia... |
ORPHA:90795 |
| Ataxia-Telangiectasia |
|
Abnormal testis morphology, Polycystic ovaries |
ORPHA:100 |
| Familial Adenomatous Polyposis 4 |
|
Renal cyst, Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Dysmenorrhea, Polycystic ovaries, Oligomenorrhea, Primary amenorrhea, Secondary amenorrhea |
ORPHA:79083 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Hypospadias, Teratoma, Facial hemangioma, Hypoplastic labia majora, Hepatoblastoma... |
OMIM:269150 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Craniosynostosis |
ORPHA:88643 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Aicardi Syndrome |
|
Precocious puberty, Metastatic angiosarcoma, Teratoma, Hemangioma, Hepatoblastoma, Lipoma, Carcinoma |
OMIM:304050 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovarian cyst, Increased circulating gonado... |
ORPHA:64739 |
| Ovarian Dysgenesis 9 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... |
OMIM:619665 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, Polycystic ovaries |
OMIM:616831 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Dysmenorrhea, Secondary amenorrhea, Polycystic ovaries |
ORPHA:2348 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Sacrococcygeal teratoma |
ORPHA:1757 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... |
ORPHA:1772 |
| 46,Xy Sex Reversal 6 |
|
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Chordee, Gonadoblastoma, Hypospadias, Dys... |
OMIM:613762 |
| Schinzel-Giedion Syndrome |
|
Streak ovary, Ependymoma, Teratoma, Nephroblastoma, Facial hemangioma, Hepatoblastoma, Myeloid le... |
ORPHA:798 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries |
ORPHA:1227 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi... |
ORPHA:90797 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
| Duplication Of The Pituitary Gland |
|
Teratoma |
ORPHA:314621 |
| Donohue Syndrome |
|
Precocious puberty, Clitoral hypertrophy, Long penis, Ovarian cyst |
OMIM:246200 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Germ cell neoplasia, ... |
ORPHA:99429 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... |
ORPHA:168563 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Decreased testicular size, Micropenis |
ORPHA:335 |
| Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:614129 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Irregular menstruation, Increased circulating prolactin concentration, Goiter... |
ORPHA:562 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Gonadal dysgenesis, Polycystic ovaries |
ORPHA:1770 |
| Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... |
OMIM:614841 |
| Aromatase Deficiency |
|
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... |
ORPHA:91 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Micropenis, Hypoplasia of the ovary, Cryptorchidism, Primary amenorrhea |
OMIM:618841 |
| Preeclampsia |
|
Polycystic ovaries |
ORPHA:275555 |
| Cowden Syndrome 6 |
|
Varicocele, Hydrocele testis, Ovarian cyst, Goiter |
OMIM:615109 |
| Estrogen Resistance Syndrome |
|
Breast hypoplasia, Enlarged polycystic ovaries, Primary amenorrhea, Increased circulating gonadot... |
ORPHA:785 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Ovarian cyst |
OMIM:610475 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
| Frasier Syndrome |
|
Streak ovary, Nephroblastoma, Ambiguous genitalia, male, Male pseudohermaphroditism, Gonadal dysg... |
ORPHA:347 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Elevated circulating luteinizing hormone level, Female infertility, Lacrimal gland hypoplasia, St... |
ORPHA:572333 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Oligomenorrhea, Dysmenorrhea, Polycystic ovaries |
ORPHA:79240 |
| Cowden Syndrome 1 |
|
Varicocele, Goiter, Ovarian carcinoma, Ovarian cyst, Hydrocele testis |
OMIM:158350 |
| Cystic Echinococcosis |
|
Abnormality of the testis size, Hepatic cysts, Ovarian cyst, Renal cyst, Eosinophilia |
ORPHA:400 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Nephroblasto... |
OMIM:194072 |
| Cowden Syndrome 5 |
|
Hydrocele testis, Ovarian cyst, Goiter |
OMIM:615108 |
| 46,Xy Ovotesticular Difference Of Sex Development |
|
Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology... |
ORPHA:325345 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... |
ORPHA:3109 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... |
ORPHA:480536 |
| 46,Xy Sex Reversal 10 |
|
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... |
OMIM:616425 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... |
ORPHA:314478 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Oligomenorrhea, Dysmenorrhea, Polycystic ovaries |
ORPHA:264580 |
| Short Syndrome |
|
Ovarian cyst |
OMIM:269880 |
| Tetragametic Chimerism |
|
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... |
ORPHA:199310 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal male external genitalia morphology, Abnormal ovarian morphology, Elevated circulating lu... |
ORPHA:95699 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst |
ORPHA:454840 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Nodular goiter, Premature thelarche, Polycystic ovaries |
ORPHA:371428 |
| Peutz-Jeghers Syndrome |
|
Uterine neoplasm, Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor |
OMIM:175200 |
| Carney Complex |
|
Precocious puberty, Leydig cell neoplasia, Euthyroid multinodular goiter, Sertoli cell neoplasm, ... |
ORPHA:1359 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Dysmenorrhea, Secondary amenorrhea, Polycystic ovaries |
ORPHA:280365 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries |
ORPHA:2969 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Female infertility, Amenorrhea, Premature ovarian insufficiency, Hypoplas... |
OMIM:110100 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor... |
ORPHA:251510 |
| Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hypopla... |
ORPHA:3130 |
| Infantile Systemic Hyalinosis |
|
Polycystic ovaries |
ORPHA:2176 |
| Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Ovarian cyst |
OMIM:618188 |
| Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Ovarian cyst, Hyperpituitarism, Elevated circulating growth hormon... |
ORPHA:249 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Chromosome 17Q12 Deletion Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the... |
OMIM:614527 |
| Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Pancreatic adenocarcinoma, Cervix cancer, Multiple renal cysts |
ORPHA:2869 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Clitoral hypertrophy, Labial hypertrophy, Decreased fertility, Polycystic ovaries, Decreased fert... |
OMIM:269700 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria... |
OMIM:201750 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged polycystic ovaries, Enlarged ovaries, Abnormal salivary gland morphology, Polycystic ova... |
ORPHA:2298 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Labial hypertrophy, Clitoral hypertrophy, Decreased fertility in females, Polycystic ovaries |
OMIM:608594 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Ovarian serous cystadenoma, Hydrocele testis |
ORPHA:276280 |
| Acquired Generalized Lipodystrophy |
|
Polycystic ovaries |
ORPHA:79086 |
| Orofaciodigital Syndrome I |
|
Pancreatic cysts, Polycystic kidney dysplasia, Hepatic cysts, Ovarian cyst |
OMIM:311200 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Breast hypo... |
ORPHA:2232 |
| Bardet-Biedl Syndrome |
|
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas... |
ORPHA:110 |
| Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Female infertility, Male infertility |
ORPHA:244 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Labial pseudohypertrophy, Polycystic ovaries |
OMIM:151660 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Irregular menstruation, Menorrhagia, Polycystic ovaries |
ORPHA:79259 |
| Histiocytoid Cardiomyopathy |
|
Renal cyst, Polycystic ovaries |
ORPHA:137675 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
| Currarino Syndrome |
|
Presacral teratoma, Septate vagina, Rectovaginal fistula, Bicornuate uterus |
OMIM:176450 |
| Digeorge Syndrome |
|
Cholelithiasis, Parathyroid hypoplasia, Ovarian cyst, Parathyroid agenesis, Hypoplasia of the thy... |
OMIM:188400 |
| Williams Syndrome |
|
Precocious puberty, Cholelithiasis, Cryptorchidism, Polycystic ovaries, Hypogonadotropic hypogona... |
ORPHA:904 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
| Opsoclonus-Myoclonus Syndrome |
|
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... |
ORPHA:1183 |
| Cowden Syndrome |
|
Abnormal penis morphology, Abnormality of the uterus, Goiter, Endometrial carcinoma, Enlarged pol... |
ORPHA:201 |
| Sotos Syndrome |
|
Small cell lung carcinoma, Neoplasm, Decreased fertility, Cryptorchidism, Phimosis, Acute lymphob... |
ORPHA:821 |
| Rabson-Mendenhall Syndrome |
|
Precocious puberty, Clitoral hypertrophy, Long penis, Enlarged ovaries, Increased pineal volume |
ORPHA:769 |
| Opitz Gbbb Syndrome |
|
Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Bicornuate uterus, Hypospadias |
ORPHA:2745 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Female infertility, Abnormality of the ovary, Premature ovarian insufficiency, Melanoma, Primary ... |
ORPHA:99413 |
| Turner Syndrome |
|
Female infertility, Abnormality of the ovary, Premature ovarian insufficiency, Melanoma, Primary ... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Female infertility, Abnormality of the ovary, Premature ovarian insufficiency, Melanoma, Primary ... |
ORPHA:99228 |
| Monosomy X |
|
Female infertility, Abnormality of the ovary, Premature ovarian insufficiency, Melanoma, Primary ... |
ORPHA:99226 |
| Limb-Mammary Syndrome |
|
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... |
ORPHA:69085 |
| Leopard Syndrome 1 |
|
Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Micropenis, Hypo... |
OMIM:151100 |
| Leprechaunism |
|
Clitoral hypertrophy, Long penis, Overgrowth of external genitalia, Labial hypertrophy, Enlarged ... |
ORPHA:508 |
| Alström Syndrome |
|
Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Hypoplasia of the Ley... |
ORPHA:64 |
| Proteus Syndrome |
|
Long penis, Thymus hyperplasia, Enlarged polycystic ovaries, Renal cyst, Testicular neoplasm, Mac... |
ORPHA:744 |
| Nmda Receptor Encephalitis |
|
Testicular teratoma, Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neuroblastoma, N... |
ORPHA:217253 |
| Pyomyositis |
|
Testicular teratoma |
ORPHA:764 |
