| Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| Intellectual Developmental Disorder, 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 |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
| Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
| Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size |
ORPHA:436144 |
| 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, Long penis, Macroorchidism, Oligospermia |
ORPHA:3000 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries |
OMIM:184700 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism |
ORPHA:242 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
| Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Micropenis, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... |
OMIM:615542 |
| Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... |
ORPHA:90301 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, C... |
ORPHA:1646 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, Cryptorchidism, Microphallus |
OMIM:614840 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... |
ORPHA:206484 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619528 |
| 17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
| Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Azoospermia, Decreased testicular size |
ORPHA:98797 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
| Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropr... |
ORPHA:98798 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Azoospermia, Decreased testicular size |
OMIM:619145 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia |
OMIM:619831 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... |
ORPHA:1916 |
| Precocious Puberty, Male-Limited |
|
Precocious puberty in males, Decreased testicular size |
OMIM:176410 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
| Spermatogenic Failure 63 |
|
Oligospermia, Decreased testicular size |
OMIM:619689 |
| Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... |
ORPHA:199310 |
| Functioning Gonadotropic Adenoma |
|
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... |
ORPHA:91348 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Elevated circulating growth hormone concentration, Macroorchidism |
ORPHA:85327 |
| Rudiger Syndrome |
|
Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Streak ovary, B... |
ORPHA:261529 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty |
ORPHA:2229 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased testicular size, Micropenis |
OMIM:146110 |
| 46,Xy Sex Reversal 10 |
|
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... |
OMIM:616425 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
| 46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Elevated circulating l... |
OMIM:273250 |
| Xp22.13P22.2 Duplication Syndrome |
|
Polycystic ovaries, Macroorchidism |
ORPHA:284180 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Dec... |
OMIM:614837 |
| Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst |
ORPHA:397685 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
| Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
| Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
| Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
| 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 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... |
ORPHA:399805 |
| 47,Xyy Syndrome |
|
Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varicocele, Azoospermia, Increased circula... |
ORPHA:8 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
| 46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... |
OMIM:612965 |
| 46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Urogenital sinus anomaly, Hypoplasia of penis, Ambiguous genitalia, male, Bifid scrotum, Ambiguou... |
ORPHA:753 |
| Pseudovaginal Perineoscrotal Hypospadias |
|
Ambiguous genitalia, male, Micropenis, Bifid scrotum, Cryptorchidism, Perineal hypospadias |
OMIM:264600 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... |
ORPHA:755 |
| Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism |
OMIM:613546 |
| Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
| Ovarian Hyperstimulation Syndrome |
|
Ovarian cyst, Increased circulating gonadotropin level, Enlarged polycystic ovaries, Hemorrhagic ... |
ORPHA:64739 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadism, Decreased testicular size, Micropenis |
OMIM:616030 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Oligospermia, Gon... |
ORPHA:52901 |
| Estrogen Resistance Syndrome |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level, Enlarged polycystic ovaries, ... |
ORPHA:785 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... |
ORPHA:168563 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
| Xp22.3 Microdeletion Syndrome |
|
Polycystic ovaries, Hypogonadotropic hypogonadism |
ORPHA:1643 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Aromatase Deficiency |
|
Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Crypto... |
ORPHA:91 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Ovarian Fibroma |
|
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary |
ORPHA:314473 |
| Hereditary Breast And Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer |
ORPHA:145 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Decreased testicular size |
OMIM:614858 |
| Polyembryoma |
|
Isosexual precocious puberty, Macroorchidism |
ORPHA:180229 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... |
OMIM:614841 |
| Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... |
OMIM:194072 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Macroorchidism |
OMIM:300055 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Decreased testicular size, Small pituitary gland, Micropenis |
OMIM:614880 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries |
OMIM:608709 |
| Mental Retardation, X-Linked 92 |
|
Decreased testicular size |
OMIM:300851 |
| Isolated Splenogonadal Fusion |
|
Hydrocele testis, Abnormal penis morphology, Unilateral cryptorchidism, Testicular mass, Bilatera... |
ORPHA:457083 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Hypergonadotropic hypogonadism, Streak ovary |
OMIM:241090 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
| Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Cervix cancer |
ORPHA:2869 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Polycystic ovaries, Hepatomegaly |
ORPHA:79084 |
| Ovarian Dysgenesis 2 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary |
OMIM:300510 |
| Rabson-Mendenhall Syndrome |
|
Precocious puberty, Long penis, Enlarged ovaries, Clitoral hypertrophy, Increased pineal volume |
ORPHA:769 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in individual with 4... |
ORPHA:90790 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Cryptorchidism, Decreased testicular size |
ORPHA:3085 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot... |
OMIM:228300 |
| Opitz Gbbb Syndrome |
|
Bicornuate uterus, Bifid scrotum, Hypospadias, Enlarged ovaries, Shawl scrotum, Cryptorchidism |
ORPHA:2745 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Cli... |
OMIM:612964 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Macroorchidism |
ORPHA:324410 |
| Insulin-Resistance Syndrome Type B |
|
Polycystic ovaries, Enlarged ovaries, Enlarged polycystic ovaries, Abnormal salivary gland morpho... |
ORPHA:2298 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
| Non-Functioning Pituitary Adenoma |
|
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Decreased response to... |
ORPHA:91349 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Abnormality of the urethra, Abnormality of the ovary |
ORPHA:2795 |
| Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Decreased testicular siz... |
OMIM:612885 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary, Abnormal endometrium morphology |
ORPHA:314478 |
| Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
|
Hematocolpos, Uterus didelphys, Partial vaginal septum |
OMIM:192050 |
| 46,Xy Sex Reversal 8 |
|
Sex reversal, Ambiguous genitalia, Male pseudohermaphroditism, Cryptorchidism |
OMIM:614279 |
| Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
| Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... |
ORPHA:99429 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Elevated circulat... |
ORPHA:90797 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Macroorchidism |
OMIM:618874 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Cryptorchidism, Hypoplasia of the ovary, Micropenis |
OMIM:618841 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Elevated circulating growth hormone concentration, Ovarian cyst, Increased ci... |
ORPHA:562 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Leprechaunism |
|
Hepatomegaly, Long penis, Enlarged kidney, Enlarged ovaries, Labial hypertrophy, Clitoral hypertr... |
ORPHA:508 |
| Distal Monosomy 10P |
|
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis |
ORPHA:1580 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ... |
ORPHA:3130 |
| Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614129 |
| Persistent Müllerian Duct Syndrome |
|
Male pseudohermaphroditism, Cryptorchidism |
ORPHA:2856 |
| Premature Ovarian Failure 18 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... |
OMIM:619203 |
| Bangstad Syndrome |
|
Polycystic ovaries, Abnormality of the parathyroid gland, Abnormal testis morphology |
ORPHA:1227 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries |
ORPHA:280356 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube |
OMIM:158330 |
| Ovarian Dysgenesis 9 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... |
OMIM:619665 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... |
OMIM:612310 |
| Perrault Syndrome 2 |
|
Streak ovary |
OMIM:614926 |
| Trisomy 20P |
|
Hypospadias, Cryptorchidism, Abnormal autonomic nervous system physiology, Macroorchidism |
ORPHA:261318 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
| Premature Ovarian Failure 5 |
|
Hypoplasia of the ovary, Streak ovary |
OMIM:611548 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... |
OMIM:278850 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism |
OMIM:309520 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating follicle stimulating hormone level, Abnormal external genitalia, Micropenis,... |
ORPHA:95699 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
| 49,Xxxyy Syndrome |
|
Abnormality of the testis size, External genital hypoplasia, Micropenis, Ambiguous genitalia, Dec... |
ORPHA:261534 |
| Preeclampsia |
|
Polycystic ovaries |
ORPHA:275555 |
| Ataxia-Telangiectasia |
|
Polycystic ovaries, Abnormal testis morphology |
ORPHA:100 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Increased circulating prolactin concentration, Thyro... |
ORPHA:90674 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary |
ORPHA:247768 |
| Ovarian Dysgenesis 10 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... |
OMIM:619834 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Congenital Fibrinogen Deficiency |
|
Right ventricular hypertrophy, Micropenis, Left ventricular hypertrophy, Hemorrhagic ovarian cyst... |
ORPHA:335 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary |
OMIM:609993 |
| Premature Ovarian Failure 8 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:615723 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating gonadotropin level, Precocious puberty in females, Blind vagina, Adrenocort... |
ORPHA:90793 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Ambiguous genitalia, Clitoral hypertrophy, Abnormal... |
ORPHA:251510 |
| Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
| Estrogen Resistance |
|
Hypoplasia of the uterus |
OMIM:615363 |
| Carney Complex |
|
Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Sertoli cell neoplasm, Precociou... |
ORPHA:1359 |
| Lumbar Syndrome |
|
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... |
ORPHA:83628 |
| Congenital Factor Vii Deficiency |
|
Ovarian cyst |
ORPHA:327 |
| Vaginal Atresia |
|
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Cervicitis, Transverse vaginal septum, Ab... |
ORPHA:65681 |
| Frasier Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... |
ORPHA:347 |
| Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Adenoma sebaceum, Abnormality of the uterus, Go... |
ORPHA:201 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Hypergonadotropic hypogonadism, Polycystic ovaries |
OMIM:268020 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Aplasia of the ovary, Elevated circulating follic... |
OMIM:614324 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Hepatomegaly |
ORPHA:79085 |
| Hymen, Imperforate |
|
Hematocolpos, Imperforate hymen, Hydrocolpos |
OMIM:237100 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Precocious puberty, Abnormal penis morphology, Testicular neoplasm, Polycystic ovaries, Goiter, A... |
ORPHA:457059 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
| Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis |
ORPHA:722 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Gonadal dysgenesis |
ORPHA:1770 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, female, Precocious puberty, Premature thelarche, Isosexual precocious pubert... |
ORPHA:90795 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Orthostatic hypotension due to autonomic... |
ORPHA:66628 |
| Donohue Syndrome |
|
Ovarian cyst, Precocious puberty, Clitoral hypertrophy, Long penis |
OMIM:246200 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Hepatomegaly |
ORPHA:435651 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Abnormal labia majora morphology, Hepatomegaly |
ORPHA:435660 |
| Cowden Syndrome 6 |
|
Hydrocele testis, Varicocele, Ovarian cyst, Goiter |
OMIM:615109 |
| Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hepatomegaly, Clitoral hypertrophy, Polycystic ovaries, Overgrowth... |
ORPHA:528 |
| Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia... |
OMIM:615300 |
| Cowden Syndrome 5 |
|
Hydrocele testis, Goiter, Ovarian cyst |
OMIM:615108 |
| 49,Xyyyy Syndrome |
|
Abnormality of the testis size, External genital hypoplasia, Male hypogonadism, Decreased testicu... |
ORPHA:99330 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Hypogonadotropic h... |
ORPHA:432 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the uterus, A... |
OMIM:146255 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula |
OMIM:617466 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... |
OMIM:202010 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Polycystic ovaries |
OMIM:604367 |
| Cowden Syndrome 1 |
|
Hydrocele testis, Ovarian cyst, Varicocele, Goiter, Ovarian carcinoma |
OMIM:158350 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Ovarian cyst |
OMIM:610475 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian cyst, Pancreatic adenocarcinoma, Endometrial carcinoma |
ORPHA:454840 |
| Proteus Syndrome |
|
Ovarian neoplasm, Splenomegaly, Testicular neoplasm, Long penis, Thymus hyperplasia, Enlarged pol... |
ORPHA:744 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Adrenocorticotropic hormone e... |
ORPHA:168558 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Papillary cystadenoma of the epididymis, Pheochromocytoma, Epididymal c... |
OMIM:193300 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Adrenocorticotropic hormone e... |
ORPHA:289548 |
| Cystic Echinococcosis |
|
Ovarian cyst, Abnormality of the testis size, Hepatomegaly |
ORPHA:400 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Polycystic ovaries, Hepatomegaly, Splenomegaly |
ORPHA:2348 |
| Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Macroorchidism |
OMIM:619950 |
| Primary Lipodystrophy |
|
Polycystic ovaries, Splenomegaly |
ORPHA:90970 |
| Luscan-Lumish Syndrome |
|
Polycystic ovaries |
OMIM:616831 |
| Popliteal Pterygium Syndrome |
|
Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Cryptorchidism,... |
OMIM:119500 |
| 46,Xy Sex Reversal 4 |
|
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... |
OMIM:154230 |
| Peutz-Jeghers Syndrome |
|
Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Neoplasm of the pancreas |
OMIM:175200 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Hepatomegaly, Splenomegaly |
ORPHA:79083 |
| Renal Cysts And Diabetes Syndrome |
|
Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Hypospadias, Pancreatic hypopl... |
OMIM:137920 |
| Bardet-Biedl Syndrome 1 |
|
Micropenis, Left ventricular hypertrophy, Decreased testicular size, Hypogonadism, Vaginal atresi... |
OMIM:209900 |
| Pontocerebellar Hypoplasia Type 7 |
|
Micropenis, Gonadal dysgenesis, Absent penis, Optic atrophy, Ambiguous genitalia, Abnormal scrota... |
ORPHA:284339 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Polycystic ovaries, Premature thelarche, Papilledema, Nodular goiter |
ORPHA:371428 |
| Proteus-Like Syndrome |
|
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly |
ORPHA:2969 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Splenomegaly, Macroorchidism |
ORPHA:93 |
| Oeis Complex |
|
Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... |
OMIM:258040 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Macroorchidism |
OMIM:208400 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Cryptorchidism, Small pituitary gland, Streak ovary, Hypergonadotropic hypogonadism, Agonadism, A... |
ORPHA:2232 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia, Par... |
ORPHA:2237 |
| Chromosome 17Q12 Deletion Syndrome |
|
Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the uterus, Aplasia of the vagina... |
OMIM:614527 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Aplasia of the vagina, Urethral atresia, Absent external genitalia |
OMIM:271520 |
| Infantile Systemic Hyalinosis |
|
Polycystic ovaries |
ORPHA:2176 |
| Acquired Generalized Lipodystrophy |
|
Polycystic ovaries, Hepatomegaly |
ORPHA:79086 |
| Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Micropenis, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadi... |
OMIM:241080 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Papillary cystadenoma of the epididymis, Papilledema, Adrenal pheochrom... |
ORPHA:892 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Polycystic ovaries, Hepatomegaly, Splenomegaly |
ORPHA:79240 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Polycystic ovaries, Hepatomegaly, Splenomegaly |
ORPHA:370 |
| Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Elevated circulating growth hormone concentration, Ovarian cyst, T... |
ORPHA:249 |
| Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Micropenis, Stre... |
ORPHA:3464 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Polycystic ovaries, Hepatomegaly, Splenomegaly |
ORPHA:264580 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Polycystic ovaries, Hepatomegaly, Labial pseudohypertrophy |
OMIM:151660 |
| Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis |
ORPHA:2879 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Abnormal ex... |
ORPHA:90794 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Chordee, Labial hypoplasia, Vesicovaginal fistula, Bifid scrotum, Micropenis, Hypospadias, Ambigu... |
OMIM:201750 |
| Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology |
ORPHA:1521 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Polycystic ovaries, Hepatomegaly, Splenomegaly |
ORPHA:280365 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating lute... |
ORPHA:572333 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Splenomegaly, Labial hypertrophy, Clitoral hypertrophy, Polycystic ovaries |
OMIM:608594 |
| Limb-Mammary Syndrome |
|
Absent nipple, Bilateral breast hypoplasia, Hypoplastic nipples, Breast aplasia, Aplasia of the u... |
ORPHA:69085 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia |
ORPHA:457284 |
| Histiocytoid Cardiomyopathy |
|
Polycystic ovaries, Optic atrophy, Hepatomegaly, Cardiomegaly |
ORPHA:137675 |
| Exstrophy-Epispadias Complex |
|
Cystocele, Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Epi... |
ORPHA:322 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Splenomegaly, Labial hypertrophy, Clitoral hypertrophy, Polycystic ovaries |
OMIM:269700 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Micropenis, Unilateral cryptorchidism, Enlarged kidney, Ambiguous genitalia, Penos... |
OMIM:618280 |
| Floating-Harbor Syndrome |
|
Hypospadias, Glandular hypospadias, Varicocele, Congenital posterior urethral valve, Cryptorchidi... |
OMIM:136140 |
| Orofaciodigital Syndrome I |
|
Ovarian cyst, Pancreatic cysts |
OMIM:311200 |
| Floating-Harbor Syndrome |
|
Precocious puberty, Hypospadias, Varicocele, Congenital posterior urethral valve, Cryptorchidism,... |
ORPHA:2044 |
| Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Micropenis |
OMIM:614083 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Polycystic ovaries, Hepatomegaly, Enlarged kidney |
ORPHA:79259 |
| Digeorge Syndrome |
|
Hydrocele testis, Cholelithiasis, Splenomegaly, Ovarian cyst, Hypoplasia of the thymus, Parathyro... |
OMIM:188400 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Hypospadias, Bifid uterus, Rectoperineal fistula, Urethral valve, Cryptorchidism, ... |
OMIM:107480 |
| Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Bifid uterus, Hypospadias, Adrenal gland dysgenesis |
OMIM:236680 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine prolapse, Uterine rupture, Cystocele, Cervical insufficiency, Cryptorchidism |
OMIM:130050 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Hepatosplenomegaly, Pancreatic cysts |
OMIM:274000 |
| Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism |
OMIM:256520 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Anteriorly displaced genitalia, Hypospadias, Hypoplastic nipples, Aplasia of the uterus, Cryptorc... |
OMIM:276820 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma |
ORPHA:99413 |
| Turner Syndrome |
|
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma |
ORPHA:881 |
| Mosaic Monosomy X |
|
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma |
ORPHA:99228 |
| Monosomy X |
|
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma |
ORPHA:99226 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Wolf-Hirschhorn Syndrome |
|
Aplasia of the uterus, Hypospadias, Cryptorchidism, Precocious puberty |
OMIM:194190 |
| Coffin-Siris Syndrome 1 |
|
Aplasia of the uterus, Hypospadias, Cryptorchidism, Clitoral hypertrophy |
OMIM:135900 |
| Norrie Disease |
|
Optic atrophy, Cryptorchidism, Uterine rupture |
ORPHA:649 |
| Williams Syndrome |
|
Cholelithiasis, Precocious puberty, Hypoplasia of penis, Hypogonadotropic hypogonadism, Urethral ... |
ORPHA:904 |
| Okamoto Syndrome |
|
Bifid uterus, Splenomegaly |
ORPHA:2729 |
| Vascular Ehlers-Danlos Syndrome |
|
Uterine prolapse, Cystocele, Uterine rupture, Hypospadias, Cryptorchidism |
ORPHA:286 |
| Alström Syndrome |
|
Precocious puberty in females, Hepatomegaly, Decreased response to growth hormone stimulation tes... |
ORPHA:64 |
| Pallister-Killian Syndrome |
|
Labial hypoplasia, Supernumerary nipple, Hypospadias, Aplasia of the upper vagina, Hypoplastic la... |
OMIM:601803 |
