| Testicular Torsion |
|
Torsion of appendix of testis, Testicular torsion |
OMIM:187400 |
| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| Mental Retardation, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries |
ORPHA:393 |
| Mental Retardation, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
| Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size |
ORPHA:436144 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Cryptorchidism, Micropenis |
OMIM:202150 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
| Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Macroorchidism, Long penis, Oligospermia |
ORPHA:3000 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries |
OMIM:184700 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... |
ORPHA:983 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries |
ORPHA:242 |
| Diethylstilbestrol Syndrome |
|
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... |
ORPHA:1916 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, ... |
ORPHA:90301 |
| Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M... |
OMIM:615542 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Cryptorchidism, Microphallus, Hypogonadotropic hypogonadism, Decreased testicular size, Micropenis |
OMIM:614840 |
| Premature Ovarian Failure 2A |
|
Premature ovarian insufficiency |
OMIM:300511 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... |
ORPHA:2138 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Gonadoblastoma |
|
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... |
ORPHA:206484 |
| Partial Chromosome Y Deletion |
|
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal sp... |
ORPHA:1646 |
| Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
| 17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Azoospermia, Cryptozoospermia |
OMIM:617960 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Decreased testicular size, Azoospermia |
ORPHA:98797 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Premature ovarian insufficiency |
ORPHA:75325 |
| Isochromosomy Yq |
|
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... |
ORPHA:98798 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
| Spermatogenic Failure 50 |
|
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest |
OMIM:619145 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
| Premature Ovarian Failure 5 |
|
Premature ovarian insufficiency |
OMIM:611548 |
| Ovarian Dysgenesis 2 |
|
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... |
OMIM:300510 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Functioning Gonadotropic Adenoma |
|
Panhypopituitarism, Ovarian cyst, Increased circulating gonadotropin level, Anterior hypopituitar... |
ORPHA:91348 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency |
OMIM:608996 |
| Tetragametic Chimerism |
|
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... |
ORPHA:199310 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
| Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst |
ORPHA:397685 |
| Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:311360 |
| 46,Xy Sex Reversal 10 |
|
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... |
OMIM:616425 |
| Premature Ovarian Failure 19 |
|
Premature ovarian insufficiency |
OMIM:619245 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Precocious puberty, Polycystic ovaries |
ORPHA:2229 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased testicular size, Micropenis |
OMIM:146110 |
| Rudiger Syndrome |
|
Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism |
OMIM:300055 |
| Ring Chromosome Y Syndrome |
|
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... |
ORPHA:261529 |
| Xq27.3Q28 Duplication Syndrome |
|
Hypogonadism, Cryptorchidism, Decreased testicular size, Premature ovarian insufficiency |
ORPHA:261483 |
| Premature Ovarian Failure 16 |
|
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Reduced... |
OMIM:618723 |
| 46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Abnor... |
OMIM:273250 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... |
ORPHA:52901 |
| Premature Ovarian Failure 9 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:615724 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency |
OMIM:300604 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased t... |
OMIM:614837 |
| Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Cryptorchidism, Elevated circulating luteinizing hormone level, Ambiguous genitalia, male, Hyperg... |
ORPHA:90796 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Increased circulating gonadotro... |
ORPHA:755 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis |
ORPHA:3055 |
| Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged polycystic ovaries, ... |
ORPHA:785 |
| Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
| Pseudovaginal Perineoscrotal Hypospadias |
|
Cryptorchidism, Ambiguous genitalia, male, Bifid scrotum, Perineal hypospadias, Micropenis |
OMIM:264600 |
| 46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... |
ORPHA:753 |
| 47,Xyy Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Macroorchidi... |
ORPHA:8 |
| Ovarian Hyperstimulation Syndrome |
|
Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating gonadotropin level, Enlarged polycy... |
ORPHA:64739 |
| Aromatase Deficiency |
|
Hypergonadotropic hypogonadism, Ovarian cyst, Female pseudohermaphroditism |
OMIM:613546 |
| Tetrasomy X |
|
Premature ovarian insufficiency |
ORPHA:9 |
| 46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... |
OMIM:612965 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Premature ovarian insufficiency |
ORPHA:2278 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... |
ORPHA:399805 |
| Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Cli... |
OMIM:612964 |
| Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm |
OMIM:615723 |
| Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Hypogonadism, Cryptorchidism, Decreased testicular size, Micropenis |
OMIM:616030 |
| Aromatase Deficiency |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Ambiguous genitalia... |
ORPHA:91 |
| Hypogonadotropic Hypogonadism 23 Without Anosmia |
|
Ovarian cyst, Abnormality of the Leydig cells, Micropenis, Hypogonadotropic hypogonadism, Testicu... |
OMIM:228300 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
| Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Polycystic ovaries |
ORPHA:1643 |
| Testicular Agenesis |
|
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... |
ORPHA:325124 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Dec... |
OMIM:612885 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormality of peripheral nerve conduction, Increased circulating gonadotropin level, Male hypogo... |
ORPHA:168563 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Decreased testicular size |
OMIM:614858 |
| Hereditary Breast And Ovarian Cancer Syndrome |
|
Abnormal fallopian tube morphology, Neoplasm of the pancreas, Prostate cancer, Ovarian neoplasm |
ORPHA:145 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Cryptorchidism, Abnormality of the uterus, Abnormal vagina morphology, Gonadoblastoma, Streak ova... |
OMIM:194072 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
| 46,Xy Sex Reversal 7 |
|
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... |
OMIM:233420 |
| Perrault Syndrome 6 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... |
ORPHA:754 |
| Polyembryoma |
|
Isosexual precocious puberty, Macroorchidism |
ORPHA:180229 |
| Ovarian Fibroma |
|
Ovarian fibroma, Abnormality of the ovary, Gonadal calcification |
ORPHA:314473 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Cryptorchidism, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased testicular siz... |
OMIM:614841 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Decreased testicular size, Small pituitary gland, Micropenis |
OMIM:614880 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries |
OMIM:608709 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Polycystic ovaries |
ORPHA:79084 |
| Non-Functioning Pituitary Adenoma |
|
Panhypopituitarism, Abnormality of the pituitary gland, Male hypogonadism, Increased circulating ... |
ORPHA:91349 |
| Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Cervix cancer, Pancreatic adenocarcinoma |
ORPHA:2869 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Decreased testicular size, Polycystic ovaries |
ORPHA:3085 |
| Rabson-Mendenhall Syndrome |
|
Long penis, Enlarged ovaries, Increased pineal volume, Clitoral hypertrophy, Precocious puberty |
ORPHA:769 |
| Isolated Splenogonadal Fusion |
|
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Bilateral cryptorchidism... |
ORPHA:457083 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Macroorchidism, Abnormality of female external genitalia, Female external ... |
ORPHA:90790 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... |
ORPHA:399808 |
| Premature Ovarian Failure 18 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... |
OMIM:619203 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Hypergonadotropic hypogonadism, Streak ovary |
OMIM:241090 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Decreased testicular size, Azoospermia, Micropenis |
OMIM:614897 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Elevated ... |
OMIM:612310 |
| Mental Retardation, X-Linked 92 |
|
Decreased testicular size |
OMIM:300851 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter, Premature ovarian insufficiency |
OMIM:617175 |
| 46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism |
OMIM:614279 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Cardiomegaly |
ORPHA:324410 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal salivary gland morphology, Enlarged polycystic ovaries, Polycystic ova... |
ORPHA:2298 |
| Premature Ovarian Failure 17 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:619146 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Abnormality of the urethra, Polycystic ovaries |
ORPHA:2795 |
| Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
|
Partial vaginal septum, Uterus didelphys, Hematocolpos |
OMIM:192050 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618086 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... |
ORPHA:99429 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Aplasia of the uterus, Anteriorly displaced urethral meatus |
OMIM:266810 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Abnormality of the ovary, Abnormality of the endometrium, Gonadal calcification |
ORPHA:314478 |
| Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Blind vagina, Aplasia of the... |
ORPHA:90797 |
| Mccune-Albright Syndrome |
|
Ovarian cyst, Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration,... |
ORPHA:562 |
| Opitz Gbbb Syndrome |
|
Cryptorchidism, Bifid scrotum, Enlarged ovaries, Bicornuate uterus, Hypospadias, Shawl scrotum |
ORPHA:2745 |
| Carney Complex |
|
Pituitary growth hormone cell adenoma, Ovarian cyst, Elevated circulating growth hormone concentr... |
ORPHA:1359 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Cryptorchidism, Micropenis, Hypoplasia of the ovary |
OMIM:618841 |
| Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
| Leprechaunism |
|
Long penis, Enlarged kidney, Enlarged ovaries, Hepatomegaly, Overgrowth of external genitalia, La... |
ORPHA:508 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Premature ovarian insufficiency, Decreased nerve conduction velocity |
ORPHA:2928 |
| Distal Monosomy 10P |
|
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries |
ORPHA:1580 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries |
ORPHA:280356 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Aplasia of the vagina |
OMIM:158330 |
| Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614129 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries |
ORPHA:1227 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Cryptorchidism, Elevated circulating luteinizing hormone level, Oligospermia... |
ORPHA:95699 |
| 46,Xx Sex Reversal 2 |
|
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... |
OMIM:278850 |
| Trisomy 20P |
|
Cryptorchidism, Macroorchidism, Abnormal autonomic nervous system physiology, Hypospadias |
ORPHA:261318 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome |
|
Premature ovarian insufficiency |
ORPHA:126 |
| Satoyoshi Syndrome |
|
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the uterus, Hypoplasia of the ... |
ORPHA:3130 |
| Perrault Syndrome 2 |
|
Streak ovary |
OMIM:614926 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
| Preeclampsia |
|
Polycystic ovaries |
ORPHA:275555 |
| 49,Xxxyy Syndrome |
|
Ambiguous genitalia, Increased circulating gonadotropin level, Male hypogonadism, Abnormality of ... |
ORPHA:261534 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Goiter, Macroorchidism, Pituitary hypothyroidism, Increased circulating prolactin concentration, ... |
ORPHA:90674 |
| Ataxia-Telangiectasia |
|
Abnormal testis morphology, Polycystic ovaries |
ORPHA:100 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology |
ORPHA:247768 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Premature ovarian insufficiency, Splenomegaly |
ORPHA:100025 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Ovarian cyst, Male hypogonadism, Elevated circulating luteinizing hormone level, Ambiguous genita... |
ORPHA:90793 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Cryptorchidism, Abnormal internal genitalia, Female external genitalia in individual with 46,XY k... |
ORPHA:251510 |
| Androgen Insensitivity, Partial |
|
Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadias, Male pseud... |
OMIM:312300 |
| Cowden Syndrome |
|
Abnormality of the uterus, Goiter, Abnormal penis morphology, Endometrial carcinoma, Adenoma seba... |
ORPHA:201 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Right ventricular hypertrophy, Left ventricular hypertrophy, Decreased ... |
ORPHA:335 |
| Congenital Factor Vii Deficiency |
|
Ovarian cyst |
ORPHA:327 |
| Von Hippel-Lindau Syndrome |
|
Pheochromocytoma, Pancreatic cysts, Epididymal cyst, Papillary cystadenoma of the epididymis, Neo... |
OMIM:193300 |
| Estrogen Resistance |
|
Hypoplasia of the uterus |
OMIM:615363 |
| Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
| Lumbar Syndrome |
|
Cryptorchidism, Bifid uterus, Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Hypos... |
ORPHA:83628 |
| Frasier Syndrome |
|
Increased circulating gonadotropin level, Ambiguous genitalia, male, Gonadoblastoma, Hypergonadot... |
ORPHA:347 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Hypergonadotropic hypogonadism, Polycystic ovaries |
OMIM:268020 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries |
ORPHA:79085 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia... |
OMIM:615300 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Goiter, Abnormal testis morphology, Abnormal penis morphology, Polycystic ovaries, Testicular neo... |
ORPHA:457059 |
| Hymen, Imperforate |
|
Hydrocolpos, Imperforate hymen, Hematocolpos |
OMIM:237100 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Cryptorchidism, Chordee, Abnormal internal genitalia, Epispadias, Micropenis, Ambiguous genitalia... |
ORPHA:1772 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, Long penis, Premature pubarche, Ambiguous genitalia, female, Polycystic ovar... |
ORPHA:90795 |
| Renal Cysts And Diabetes Syndrome |
|
Hypoplasia of the uterus, Epididymal cyst, Bicornuate uterus, Pancreatic hypoplasia, Hypospadias,... |
OMIM:137920 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Gonadal dysgenesis, Polycystic ovaries |
ORPHA:1770 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia |
OMIM:601076 |
| Donohue Syndrome |
|
Ovarian cyst, Clitoral hypertrophy, Precocious puberty, Long penis |
OMIM:246200 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, H... |
ORPHA:432 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries |
ORPHA:435651 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Abnormal labia majora morphology, Polycystic ovaries |
ORPHA:435660 |
| Obesity Due To Congenital Leptin Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Hypergonadotropic hypogonadism, Pituitary h... |
ORPHA:66628 |
| Congenital Generalized Lipodystrophy |
|
Polycystic ovaries, Hepatomegaly, Precocious puberty in females, Overgrowth of external genitalia... |
ORPHA:528 |
| Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Aganglionic megacolon, Vaginal atresia, Left ventricular hypertrophy, D... |
OMIM:209900 |
| 46,Xx Gonadal Dysgenesis |
|
Increased circulating gonadotropin level, Streak ovary, Aplasia/hypoplasia of the uterus, Gonadal... |
ORPHA:243 |
| Cowden Syndrome 6 |
|
Hydrocele testis, Goiter, Ovarian cyst, Varicocele |
OMIM:615109 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Polycystic ovaries |
OMIM:604367 |
| 49,Xyyyy Syndrome |
|
Male hypogonadism, Increased circulating gonadotropin level, Azoospermia, Abnormality of the test... |
ORPHA:99330 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula |
OMIM:617466 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Disease |
|
Septate vagina, Pseudopapilledema, Uterus didelphys, Hypoparathyroidism, Aplasia of the uterus, A... |
OMIM:146255 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Hypergonadotropic hypogonadism, Pituitary h... |
ORPHA:179494 |
| Proteus Syndrome |
|
Ovarian neoplasm, Long penis, Macroorchidism, Splenomegaly, Testicular neoplasm, Thymus hyperplas... |
ORPHA:744 |
| Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
| Cowden Syndrome 5 |
|
Hydrocele testis, Goiter, Ovarian cyst |
OMIM:615108 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Long penis, Clitoral hypertrophy, Precocious puberty in males, Hypoplasia of the uterus, Congenit... |
OMIM:202010 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian cyst, Endometrial carcinoma, Pancreatic adenocarcinoma |
ORPHA:454840 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Floating-Harbor Syndrome |
|
Cryptorchidism, Epididymal cyst, Congenital posterior urethral valve, Hypospadias, Varicocele |
OMIM:136140 |
| Cowden Syndrome 1 |
|
Hydrocele testis, Ovarian cyst, Goiter, Ovarian carcinoma, Varicocele |
OMIM:158350 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
| Von Hippel-Lindau Disease |
|
Pancreatic cysts, Epididymal cyst, Adrenal pheochromocytoma, Papilledema, Papillary cystadenoma o... |
ORPHA:892 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Cryptorchidism, Elevated circulating luteinizing hormone level, Midshaft hypospadias, Ambiguous g... |
ORPHA:168558 |
| Peutz-Jeghers Syndrome |
|
Precocious puberty with Sertoli cell tumor, Neoplasm of the pancreas, Ovarian cyst, Uterine neoplasm |
OMIM:175200 |
| Popliteal Pterygium Syndrome |
|
Cryptorchidism, Bifid scrotum, Scrotal hypoplasia, Hypoplasia of the uterus, Hypoplastic labia ma... |
OMIM:119500 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Cryptorchidism, Elevated circulating luteinizing hormone level, Midshaft hypospadias, Ambiguous g... |
ORPHA:289548 |
| Cystic Echinococcosis |
|
Hepatomegaly, Ovarian cyst, Abnormality of the testis size |
ORPHA:400 |
| Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome |
|
Urethral atresia, Cryptorchidism, Absent external genitalia, Persistent cloaca, Aplasia of the ut... |
ORPHA:94095 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries |
ORPHA:2348 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
| Luscan-Lumish Syndrome |
|
Polycystic ovaries |
OMIM:616831 |
| Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypoplasia of the fallopian tube, Elevated circulating thyroid-st... |
OMIM:241080 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| Primary Lipodystrophy |
|
Splenomegaly, Polycystic ovaries |
ORPHA:90970 |
| Pontocerebellar Hypoplasia Type 7 |
|
Cryptorchidism, Ambiguous genitalia, Microphallus, Absent penis, Abnormal scrotal rugation, Clito... |
ORPHA:284339 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries |
ORPHA:79083 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Nodular goiter, Premature thelarche, Polycystic ovaries |
ORPHA:371428 |
| Cardiac-Urogenital Syndrome |
|
Cryptorchidism, Ambiguous genitalia, Bifid scrotum, Micropenis, Aplasia of the uterus |
OMIM:618280 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycystic ovaries |
ORPHA:2969 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Macroorchidism, Splenomegaly |
ORPHA:93 |
| Oeis Complex |
|
Cryptorchidism, Bifid uterus, Ambiguous genitalia, male, Ambiguous genitalia, female, Rectovagina... |
OMIM:258040 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Macroorchidism |
OMIM:208400 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Septate vagina, Vaginal atresia, Parathyroid hypoplasia, Uterus didelphys, Hypoparathyroidism, Ap... |
ORPHA:2237 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Aplasia of the ovary, Breast hypoplasia... |
ORPHA:2232 |
| Woodhouse-Sakati Syndrome |
|
Micropenis, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ovary, Decreased t... |
ORPHA:3464 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the uterus, Aplas... |
OMIM:614527 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
| Infantile Systemic Hyalinosis |
|
Polycystic ovaries |
ORPHA:2176 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries |
ORPHA:79086 |
| Floating-Harbor Syndrome |
|
Cryptorchidism, Epididymal cyst, Congenital posterior urethral valve, Hypospadias, Precocious pub... |
ORPHA:2044 |
| Acromesomelic Dysplasia, Demirhan Type |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:609441 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Ambiguous genitalia, Urogenital sinus anomaly, Long penis, Premature pubarche, Decreased testicul... |
ORPHA:90794 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries |
ORPHA:370 |
| Fibrous Dysplasia Of Bone |
|
Ovarian cyst, Elevated circulating growth hormone concentration, Precocious puberty in females, H... |
ORPHA:249 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Increased circulating gonadotropin level, Hypoplasia of the uterus, Premature ovarian insufficiency |
OMIM:110100 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Hypergonadotropic hypo... |
ORPHA:572333 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Labial pseudohypertrophy, Polycystic ovaries |
OMIM:151660 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries |
ORPHA:264580 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis |
ORPHA:2879 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology |
ORPHA:1521 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries |
ORPHA:280365 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Clitoral hypertrophy, Polycystic ovaries, Hepatomegaly, Splenomegaly, Labial hypertrophy |
OMIM:608594 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Cryptorchidism, Ambiguous genitalia, Bifid scrotum, Chordee, Scrotal hypoplasia, Polycystic ovari... |
OMIM:201750 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Ovotestis, Chordee, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Micropenis |
OMIM:309801 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Clitoral hypertrophy, Polycystic ovaries, Hepatomegaly, Splenomegaly, Labial hypertrophy |
OMIM:269700 |
| Orofaciodigital Syndrome I |
|
Pancreatic cysts, Ovarian cyst |
OMIM:311200 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
| Exstrophy-Epispadias Complex |
|
Cryptorchidism, Bifid uterus, Bifid scrotum, Penoscrotal transposition, Cystocele, Absent penis, ... |
ORPHA:322 |
| Limb-Mammary Syndrome |
|
Absent nipple, Bilateral breast hypoplasia, Aplasia of the ovary, Breast aplasia, Hypoplastic nip... |
ORPHA:69085 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Optic atrophy, Cardiomegaly, Polycystic ovaries |
ORPHA:137675 |
| Townes-Brocks Syndrome 1 |
|
Cryptorchidism, Bifid uterus, Bifid scrotum, Urethral valve, Rectovaginal fistula, Hypospadias, R... |
OMIM:107480 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Hepatosplenomegaly, Aplasia of the uterus |
OMIM:274000 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Enlarged kidney, Polycystic ovaries |
ORPHA:79259 |
| Hydrolethalus Syndrome 1 |
|
Hypospadias, Bifid uterus, Abnormal vagina morphology, Adrenal gland dysgenesis |
OMIM:236680 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Uterine rupture, Cystocele, Cervical insufficiency, Uterine prolapse |
OMIM:130050 |
| Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Bifid uterus |
OMIM:256520 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Cryptorchidism, Scrotal hypoplasia, Hypoplastic nipples, Hypospadias, Anteriorly displaced genita... |
OMIM:276820 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Turner Syndrome |
|
Gonadoblastoma, Abnormality of the ovary, Increased circulating gonadotropin level, Premature ova... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Gonadoblastoma, Abnormality of the ovary, Increased circulating gonadotropin level, Premature ova... |
ORPHA:99228 |
| Monosomy X |
|
Gonadoblastoma, Abnormality of the ovary, Increased circulating gonadotropin level, Premature ova... |
ORPHA:99226 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Gonadoblastoma, Abnormality of the ovary, Increased circulating gonadotropin level, Premature ova... |
ORPHA:99413 |
| Coffin-Siris Syndrome 1 |
|
Hypospadias, Cryptorchidism, Aplasia of the uterus, Clitoral hypertrophy |
OMIM:135900 |
| Rubinstein-Taybi Syndrome 1 |
|
Cryptorchidism, Bifid uterus, Shawl scrotum, Aganglionic megacolon, Papillary cystadenoma of the ... |
OMIM:180849 |
| Wolf-Hirschhorn Syndrome |
|
Aplasia of the uterus, Hypospadias, Cryptorchidism, Precocious puberty |
OMIM:194190 |
| Norrie Disease |
|
Cryptorchidism, Optic atrophy, Uterine rupture |
ORPHA:649 |
| Okamoto Syndrome |
|
Bifid uterus, Splenomegaly |
ORPHA:2729 |
| Williams Syndrome |
|
Cryptorchidism, Cholelithiasis, Polycystic ovaries, Urethral stenosis, Cardiomegaly, Hypoplasia o... |
ORPHA:904 |
| Pallister-Killian Syndrome |
|
Cryptorchidism, Small scrotum, Hypoplastic labia majora, Aplasia of the upper vagina, Hypospadias... |
OMIM:601803 |
| Vascular Ehlers-Danlos Syndrome |
|
Cryptorchidism, Uterine rupture, Cystocele, Hypospadias, Uterine prolapse |
ORPHA:286 |
| Alström Syndrome |
|
Hyoplasia of the Leydig cells, Oligospermia, Hypergonadotropic hypogonadism, Testicular fibrosis,... |
ORPHA:64 |
