Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Familial Hyperprolactinemia |
|
Amenorrhea, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Menorrhagia, Female hypogonadism |
ORPHA:397685 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Gestational Choriocarcinoma |
|
Choriocarcinoma, Neoplasm, Trophoblastic tumor, Metrorrhagia |
ORPHA:99926 |
Testicular Germ Cell Tumor |
|
Azoospermia, Embryonal neoplasm, Choriocarcinoma, Teratoma |
OMIM:273300 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
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 |
46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism |
ORPHA:242 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Gonadoblastoma |
|
Gonadoblastoma |
OMIM:424500 |
Xp22.3 Microdeletion Syndrome |
|
Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea, Decreased fertility |
ORPHA:1643 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty |
ORPHA:2229 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Polycystic Ovary Syndrome 1 |
|
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries |
OMIM:184700 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Oligomenorrhea, Female infertility, Hypoplasia of the uterus |
OMIM:617442 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Testicular Germ Cell Tumor 1 |
|
Germ cell neoplasia |
OMIM:300228 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Amenorrhea, Abnormality of the urethra, Menorrhagia, Oligomenorrhea, Polycystic ovaries, Abnormal... |
ORPHA:2795 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot... |
OMIM:228300 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Rudiger Syndrome |
|
Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
Plin1-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Infertility, Oligomenorrhea |
ORPHA:280356 |
Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary amenorr... |
OMIM:612310 |
Functioning Gonadotropic Adenoma |
|
Amenorrhea, Infertility, Adrenocorticotropic hormone deficiency, Impotence, Abnormal prolactin le... |
ORPHA:91348 |
Premature Ovarian Failure 5 |
|
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... |
OMIM:611548 |
Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... |
ORPHA:157798 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Secondary amenorrhea, Decreased testicular size, Polycystic ovari... |
ORPHA:3085 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... |
OMIM:300510 |
Teratoma, Pineal |
|
Teratoma |
OMIM:273120 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries |
OMIM:608709 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovaries |
ORPHA:90301 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Polycystic ovaries |
ORPHA:79084 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea |
OMIM:268020 |
Congenital Factor Vii Deficiency |
|
Ovarian cyst, Menorrhagia |
ORPHA:327 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating gonadotropin level, Precocious puberty in females, Blind vagina, Adrenocort... |
ORPHA:90793 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Ambiguous geni... |
ORPHA:90796 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decr... |
OMIM:612885 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Female infertility, Primary amenorrhea |
OMIM:614324 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
46,Xy Sex Reversal 1 |
|
Sex reversal, Abnormality of male external genitalia, Male pseudohermaphroditism, Primary amenorr... |
OMIM:400044 |
Akt2-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Oligomenorrhea |
ORPHA:79085 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
Currarino Syndrome |
|
Hypoplasia of penis, Bifid scrotum, Hypospadias, Male pseudohermaphroditism, Sacrococcygeal teratoma |
ORPHA:1552 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Hypergonadotropic hypogonadism, Streak ovary |
OMIM:241090 |
Distal Monosomy 10P |
|
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis |
ORPHA:1580 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... |
ORPHA:206484 |
Lipodystrophy, Familial Partial, Type 3 |
|
Polycystic ovaries, Oligomenorrhea, Primary amenorrhea |
OMIM:604367 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Breast carcinoma, Micropenis, Hypospadias, Melanoma, De... |
ORPHA:1916 |
Congenital Generalized Lipodystrophy |
|
Amenorrhea, Precocious puberty in females, Oligomenorrhea, Clitoral hypertrophy, Polycystic ovari... |
ORPHA:528 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Preeclampsia |
|
Polycystic ovaries |
ORPHA:275555 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Precocious puberty, Abnormal penis morphology, Irregular menstruation, Abnormality of the menstru... |
ORPHA:457059 |
46,Xy Sex Reversal 10 |
|
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Gonadoblastoma, Decreased testicular... |
OMIM:616425 |
Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... |
OMIM:233420 |
Cidec-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Oligomenorrhea |
ORPHA:435651 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, female, Precocious puberty, Premature thelarche, Irregular menstruation, Iso... |
ORPHA:90795 |
Lipe-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Oligomenorrhea, Abnormal labia majora morphology |
ORPHA:435660 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:615723 |
Ataxia-Telangiectasia |
|
Polycystic ovaries, Abnormal testis morphology |
ORPHA:100 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Pparg-Related Familial Partial Lipodystrophy |
|
Dysmenorrhea, Oligomenorrhea, Primary amenorrhea, Secondary amenorrhea, Polycystic ovaries |
ORPHA:79083 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Hepatoblastoma, Teratoma, Micropenis, Bicornuate uterus, Hypospadias, Facial hemangioma, Hypoplas... |
OMIM:269150 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Craniosynostosis |
ORPHA:88643 |
Aicardi Syndrome |
|
Lipoma, Precocious puberty, Hepatoblastoma, Teratoma, Hemangioma, Metastatic angiosarcoma, Carcinoma |
OMIM:304050 |
Ovarian Hyperstimulation Syndrome |
|
Ovarian cyst, Increased circulating gonadotropin level, Enlarged polycystic ovaries, Hemorrhagic ... |
ORPHA:64739 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Fused labia majora, Perineal h... |
ORPHA:90797 |
Bangstad Syndrome |
|
Polycystic ovaries, Abnormality of the parathyroid gland, Abnormal testis morphology |
ORPHA:1227 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Polycystic ovaries, Secondary amenorrhea, Dysmenorrhea |
ORPHA:2348 |
Xp22.13P22.2 Duplication Syndrome |
|
Polycystic ovaries, Macroorchidism |
ORPHA:284180 |
46,Xy Sex Reversal 6 |
|
Chordee, Sex reversal, Hypospadias, Clitoral hypertrophy, Dysgerminoma, Gonadoblastoma |
OMIM:613762 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female... |
ORPHA:168563 |
46,Xy Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Chordee, Abnormality of the clitoris, Bifid scrotum, Micropenis, Abnorm... |
ORPHA:325345 |
Schinzel-Giedion Syndrome |
|
Hepatoblastoma, Teratoma, Streak ovary, Micropenis, Hypospadias, Nephroblastoma, Facial hemangiom... |
ORPHA:798 |
Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Primary amenorrhea, Female external genitalia in individual with 46,XY karyotype, T... |
ORPHA:99429 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Luscan-Lumish Syndrome |
|
Polycystic ovaries, Irregular menstruation |
OMIM:616831 |
Fibular Dimelia-Diplopodia Syndrome |
|
Sacrococcygeal teratoma |
ORPHA:1757 |
Donohue Syndrome |
|
Ovarian cyst, Precocious puberty, Clitoral hypertrophy, Long penis |
OMIM:246200 |
Duplication Of The Pituitary Gland |
|
Teratoma |
ORPHA:314621 |
Primary Lipodystrophy |
|
Polycystic ovaries, Menometrorrhagia |
ORPHA:90970 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Gonadal dysgenesis |
ORPHA:1770 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Decreased testicular size, Micropenis |
ORPHA:335 |
Mccune-Albright Syndrome |
|
Precocious puberty, Elevated circulating growth hormone concentration, Ovarian cyst, Irregular me... |
ORPHA:562 |
Frasier Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... |
ORPHA:347 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Pri... |
OMIM:614841 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Cryptorchidism, Hypoplasia of the ovary, Primary amenorrhea, Micropenis |
OMIM:618841 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Abnormal vagina morphology, Streak ovary, Hypospadias, Nephroblastoma, Abnormality of the uterus,... |
OMIM:194072 |
Cowden Syndrome 6 |
|
Hydrocele testis, Varicocele, Ovarian cyst, Goiter |
OMIM:615109 |
Estrogen Resistance Syndrome |
|
Hypoplasia of the uterus, Primary amenorrhea, Breast hypoplasia, Increased circulating gonadotrop... |
ORPHA:785 |
Aromatase Deficiency |
|
Ambiguous genitalia, female, Female infertility, Hypergonadotropic hypogonadism, Primary amenorrh... |
ORPHA:91 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Female infertility, Streak ovary, Hypergonadotropic hypogonadism, Eleva... |
ORPHA:572333 |
Cowden Syndrome 1 |
|
Hydrocele testis, Ovarian cyst, Varicocele, Goiter, Ovarian carcinoma |
OMIM:158350 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... |
ORPHA:199310 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Ovarian cyst |
OMIM:610475 |
Cowden Syndrome 5 |
|
Hydrocele testis, Goiter, Ovarian cyst |
OMIM:615108 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Polycystic ovaries, Irregular menstruation, Oligomenorrhea, Dysmenorrhea |
ORPHA:79240 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Polycystic ovaries, Oligomenorrhea, Irregular menstruation, Dysmenorrhea |
ORPHA:370 |
Ovarian Fibrothecoma |
|
Abnormal endometrium morphology, Metrorrhagia, Gonadal calcification, Ovarian fibroma, Abnormalit... |
ORPHA:314478 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... |
ORPHA:480536 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Primary amenorrhea, Oligome... |
OMIM:615300 |
Cystic Echinococcosis |
|
Ovarian cyst, Renal cyst, Abnormality of the testis size, Hepatic cysts |
ORPHA:400 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Polycystic ovaries, Irregular menstruation, Oligomenorrhea, Dysmenorrhea |
ORPHA:264580 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Female infertility, Premature ovarian insufficiency |
OMIM:619518 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Premature ovari... |
OMIM:110100 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian cyst, Pancreatic adenocarcinoma, Endometrial carcinoma |
ORPHA:454840 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating follicle stimulating hormone level, Abnormal external genitalia, Micropenis,... |
ORPHA:95699 |
Carney Complex |
|
Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Sertoli cell neoplasm, Precociou... |
ORPHA:1359 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Polycystic ovaries, Premature thelarche, Nodular goiter |
ORPHA:371428 |
Peutz-Jeghers Syndrome |
|
Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Neoplasm of the pancreas |
OMIM:175200 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Polycystic ovaries, Secondary amenorrhea, Dysmenorrhea |
ORPHA:280365 |
Proteus-Like Syndrome |
|
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland |
ORPHA:2969 |
Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnorma... |
ORPHA:3130 |
Infantile Systemic Hyalinosis |
|
Polycystic ovaries |
ORPHA:2176 |
Chromosome 17Q12 Deletion Syndrome |
|
Ovarian cyst, Multicystic kidney dysplasia, Renal cyst, Unicornuate uterus, Urethral stenosis, Ap... |
OMIM:614527 |
Ovarian Fibroma |
|
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary |
ORPHA:314473 |
Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Elevated circulating growth hormone concentration, Ovarian cyst, T... |
ORPHA:249 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Multiple renal cysts, Cervix cancer |
ORPHA:2869 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Ovarian serous cystadenoma |
ORPHA:276280 |
Split Cord Malformation |
|
Lipoma, Teratoma, Hypospadias, Spinal cord tumor, Capillary hemangioma |
ORPHA:573278 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased fertility in females, Labial hypertrophy, Clitoral hypertrophy, Polycystic ovaries, Dec... |
OMIM:269700 |
Insulin-Resistance Syndrome Type B |
|
Polycystic ovaries, Enlarged ovaries, Enlarged polycystic ovaries, Abnormal salivary gland morpho... |
ORPHA:2298 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Polycystic ovaries, Labial hypertrophy, Clitoral hypertrophy, Decreased fertility in females |
OMIM:608594 |
Orofaciodigital Syndrome I |
|
Myelomeningocele, Ovarian cyst, Hepatic cysts, Polycystic kidney dysplasia, Pancreatic cysts |
OMIM:311200 |
Acquired Generalized Lipodystrophy |
|
Polycystic ovaries |
ORPHA:79086 |
Müllerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary |
ORPHA:247768 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Chordee, Labial hypoplasia, Vesicovaginal fistula, Bifid scrotum, Micropenis, Hypospadias, Ambigu... |
OMIM:201750 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Impotence, Cryptorchidism, Small pituitary gland, Streak ovary, Hypergonadotropic hy... |
ORPHA:2232 |
Lipodystrophy, Familial Partial, Type 2 |
|
Polycystic ovaries, Labial pseudohypertrophy |
OMIM:151660 |
Primary Ciliary Dyskinesia |
|
Female infertility, Abnormal sperm motility, Male infertility |
ORPHA:244 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Polycystic ovaries, Irregular menstruation, Menorrhagia |
ORPHA:79259 |
Histiocytoid Cardiomyopathy |
|
Polycystic ovaries, Renal cyst |
ORPHA:137675 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Currarino Syndrome |
|
Presacral teratoma, Rectovaginal fistula, Septate vagina, Bicornuate uterus |
OMIM:176450 |
Digeorge Syndrome |
|
Hydrocele testis, Cholelithiasis, Ovarian cyst, Hypoplasia of the thymus, Parathyroid agenesis, P... |
OMIM:188400 |
Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis |
ORPHA:722 |
Williams Syndrome |
|
Cholelithiasis, Precocious puberty, Hypoplasia of penis, Functional abnormality of male internal ... |
ORPHA:904 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Adenoma sebaceum, Abnormality of the uterus, Go... |
ORPHA:201 |
Opsoclonus-Myoclonus Syndrome |
|
Neoplasm, Neuroblastoma, Breast carcinoma, Ovarian teratoma, Melanoma, Small cell lung carcinoma,... |
ORPHA:1183 |
Sotos Syndrome |
|
Hydrocele testis, Neoplasm, Neuroblastoma, Hemangioma, Hypospadias, Small cell lung carcinoma, Ch... |
ORPHA:821 |
Rabson-Mendenhall Syndrome |
|
Precocious puberty, Long penis, Enlarged ovaries, Clitoral hypertrophy, Increased pineal volume |
ORPHA:769 |
Opitz Gbbb Syndrome |
|
Bicornuate uterus, Bifid scrotum, Hypospadias, Enlarged ovaries, Shawl scrotum, Cryptorchidism |
ORPHA:2745 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Female infertility, Melanoma, Primary amenorrhea, Secondary amenorrhea, Gonadoblastoma, Abnormali... |
ORPHA:99413 |
Turner Syndrome |
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Female infertility, Melanoma, Primary amenorrhea, Secondary amenorrhea, Gonadoblastoma, Abnormali... |
ORPHA:881 |
Mosaic Monosomy X |
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Female infertility, Melanoma, Primary amenorrhea, Secondary amenorrhea, Gonadoblastoma, Abnormali... |
ORPHA:99228 |
Monosomy X |
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Female infertility, Melanoma, Primary amenorrhea, Secondary amenorrhea, Gonadoblastoma, Abnormali... |
ORPHA:99226 |
Leopard Syndrome 1 |
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Hypoplasia of the ovary, Micropenis, Delayed menarche, Hypospadias, Cryptorchidism, Aplasia of th... |
OMIM:151100 |
Limb-Mammary Syndrome |
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Absent nipple, Bilateral breast hypoplasia, Primary amenorrhea, Hypoplastic nipples, Breast aplas... |
ORPHA:69085 |
Proteus Syndrome |
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Ovarian neoplasm, Testicular neoplasm, Long penis, Thymus hyperplasia, Renal cyst, Enlarged polyc... |
ORPHA:744 |
Leprechaunism |
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Long penis, Enlarged ovaries, Labial hypertrophy, Clitoral hypertrophy, Overgrowth of external ge... |
ORPHA:508 |
Alström Syndrome |
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Precocious puberty in females, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:64 |
Nmda Receptor Encephalitis |
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Hodgkin lymphoma, Neuroblastoma, Ovarian teratoma, Neoplasm of the thymus, Neoplasm of the lung, ... |
ORPHA:217253 |
Pyomyositis |
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Testicular teratoma |
ORPHA:764 |