46,Xy Sex Reversal 8 |
|
Male pseudohermaphroditism, Ambiguous genitalia, Sex reversal, Cryptorchidism |
OMIM:614279 |
46,Xy Sex Reversal 4 |
|
Sex reversal, Gonadal dysgenesis |
OMIM:154230 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Male pseudohermaphroditism, Infertility, Female external genitalia in individual with 46,XY karyo... |
OMIM:264300 |
46,Xy Sex Reversal 9 |
|
Fused labia minora, Ambiguous genitalia, Sex reversal, Gonadal dysgenesis |
OMIM:616067 |
46,Xy Sex Reversal 2 |
|
Sex reversal |
OMIM:300018 |
46,Xx Sex Reversal 3 |
|
Sex reversal |
OMIM:300833 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp... |
ORPHA:752 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
Testes, Rudimentary |
|
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism |
OMIM:273150 |
46,Xy Sex Reversal 1 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level, Gonadoblastoma, Abnormalit... |
OMIM:400044 |
Methemoglobinemia And Ambiguous Genitalia |
|
Hypospadias, Bifid scrotum, Micropenis, Ambiguous genitalia, Male pseudohermaphroditism |
OMIM:250790 |
46,Xy Sex Reversal 10 |
|
Sex reversal, Gonadoblastoma, Dysgerminoma, Micropenis, Ambiguous genitalia, Decreased testicular... |
OMIM:616425 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:619613 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
Leydig Cell Hypoplasia |
|
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Secondary amenorrhea, Abnormal... |
ORPHA:755 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hypospadias, Bifid scrotum, Absent scrotum, Micropenis, Ambiguous genitalia, Male pseudohermaphro... |
OMIM:201810 |
46,Xy Sex Reversal 5 |
|
Sex reversal |
OMIM:613080 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea |
OMIM:202110 |
Frasier Syndrome |
|
Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea, Gonadal dysgenesis |
OMIM:136680 |
Precocious Puberty, Male-Limited |
|
Precocious puberty in males, Decreased testicular size |
OMIM:176410 |
Denys-Drash Syndrome |
|
Male pseudohermaphroditism, Gonadal dysgenesis |
ORPHA:220 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
Mental Retardation, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Currarino Syndrome |
|
Hypospadias, Male pseudohermaphroditism, Hypoplasia of penis, Bifid scrotum |
ORPHA:1552 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Sex reversal |
ORPHA:85112 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... |
OMIM:612965 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Premature ovarian insufficiency, Elevated circulating follicle sti... |
OMIM:618723 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Decreased testicular size, Non-obstructive a... |
OMIM:619528 |
Frasier Syndrome |
|
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... |
ORPHA:347 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating growth hormone conc... |
ORPHA:90301 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sex reversal, Gonadoblastoma, Chordee, Dysgerminoma, Clitoral hypertrophy |
OMIM:613762 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicul... |
OMIM:614840 |
Premature Ovarian Failure 17 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... |
OMIM:619146 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries |
OMIM:184700 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Premature Ovarian Failure 1 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:311360 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decreased circu... |
ORPHA:453533 |
Denys-Drash Syndrome |
|
Ovarian gonadoblastoma, True hermaphroditism, Ambiguous genitalia, female, Ambiguous genitalia, m... |
OMIM:194080 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615724 |
Mental Retardation, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Oligomenorrhea,... |
OMIM:228300 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
46,Xx Sex Reversal 1 |
|
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... |
OMIM:400045 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Decreased fertility in females, Dysmenorrhea, Elevated circulating follicle stimulat... |
ORPHA:90796 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Azoospermia, Penoscrotal hypospadias, Ambiguous genitalia, female, Adrenocorticotrop... |
ORPHA:90791 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Premature Ovarian Failure 2A |
|
Premature ovarian insufficiency |
OMIM:300511 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Male pseudohermaphroditism |
OMIM:600122 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Sex reversal |
OMIM:613743 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615723 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Increased serum testosterone level, Gonadal dys... |
ORPHA:206484 |
Ovarian Dysgenesis 9 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... |
OMIM:619665 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... |
ORPHA:289548 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hy... |
OMIM:614841 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Male pseudohermaphroditism, Gonadal dysgenesis, male, Cryptorchidism |
ORPHA:2075 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:616030 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
Premature Ovarian Failure 18 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... |
OMIM:619203 |
Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Oligomenorrhea |
OMIM:604931 |
Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Hypoplasia of the ovary, Streak ovary, Premature ovarian insuffici... |
OMIM:611548 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Macroorchidism, Endometrial carcinoma, Female external genitalia in individu... |
ORPHA:90790 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Hy... |
OMIM:612885 |
Estrogen Resistance Syndrome |
|
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... |
ORPHA:785 |
Functioning Gonadotropic Adenoma |
|
Abnormal prolactin level, Oligospermia, Increased serum testosterone level, Adrenocorticotropic h... |
ORPHA:91348 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormality of male internal genitalia, Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Serkal Syndrome |
|
Hypospadias, Abnormal penis morphology, Sex reversal |
ORPHA:139466 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Hemorrhagic ovarian cyst, Increased circulating gonadotropin ... |
ORPHA:64739 |
Mccune-Albright Syndrome |
|
Macroorchidism, Goiter, Abnormal testis morphology, Hyperplasia of the Leydig cells, Increased ci... |
ORPHA:562 |
Chondrodysplasia-Disorder Of Sex Development Syndrome |
|
Male pseudohermaphroditism |
ORPHA:1422 |
Nivelon-Nivelon-Mabille Syndrome |
|
Male pseudohermaphroditism |
OMIM:600092 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Premature Ovarian Failure 7 |
|
Elevated circulating follicle stimulating hormone level, Clitoral hypertrophy, Premature ovarian ... |
OMIM:612964 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst |
ORPHA:397685 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
Ovarian Dysgenesis 2 |
|
Delayed puberty, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hy... |
OMIM:300510 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Premature Ovarian Failure 6 |
|
Streak ovary, Elevated circulating follicle stimulating hormone level, Premature ovarian insuffic... |
OMIM:612310 |
Insulin-Resistance Syndrome Type B |
|
Abnormal salivary gland morphology, Increased serum testosterone level, Type II diabetes mellitus... |
ORPHA:2298 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Hypospadias, Micropenis, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum |
ORPHA:2282 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormality of the male genitalia, Ambiguous genitalia, Cryptorchidism, Male pseudohermaphroditis... |
ORPHA:847 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size |
ORPHA:1875 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Polycystic ovaries, Hepatomegaly, Diabetes mellitus |
ORPHA:79084 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... |
OMIM:618841 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Increased circulating gonadotropin level,... |
ORPHA:8 |
Campomelic Dysplasia |
|
Male pseudohermaphroditism, Ambiguous genitalia |
ORPHA:140 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Long penis, Insulin-resistant diabetes mellitus, Diabetic ket... |
ORPHA:769 |
Non-Functioning Pituitary Adenoma |
|
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... |
ORPHA:91349 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Complete Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Increased serum testosterone level, Aplasia of the uterus,... |
ORPHA:99429 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogonadotropic hypogonadism, ... |
ORPHA:226307 |
Polyembryoma |
|
Macroorchidism, Irregular menstruation, Isosexual precocious puberty |
ORPHA:180229 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Ambiguous genitalia, female, Female infertility, Male infertility, ... |
ORPHA:91 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Rudiger Syndrome |
|
Bicornuate uterus, Micropenis, Ovarian cyst |
OMIM:268650 |
46,Xy Ovotesticular Disorder Of Sex Development |
|
True hermaphroditism, Bifid scrotum, Gonadoblastoma, Chordee, Abnormality of the male genitalia, ... |
ORPHA:325345 |
Plin1-Related Familial Partial Lipodystrophy |
|
Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus at puberty, Polyc... |
ORPHA:280356 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating progesterone, Hypospadias, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Polycystic ovaries |
ORPHA:1643 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries, Diabetes mellitus |
OMIM:608709 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Adrenal gland agenesis, Ovotestis, Sex reversal |
OMIM:611812 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypothalamic hypothyroidism, Hypo... |
ORPHA:2495 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Sex reversal, Micropenis, Ambiguous genitalia, Cryptorchidism, Microphallus |
OMIM:612651 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
Meckel Syndrome |
|
True hermaphroditism, Pancreatic cysts, Urethral atresia, Ambiguous genitalia, Cryptorchidism, Ma... |
ORPHA:564 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating progesterone, Adrenal hyperplasia, Oligospermia, Hypospadias, Fused labia m... |
ORPHA:95699 |
Perrault Syndrome 2 |
|
Streak ovary |
OMIM:614926 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... |
ORPHA:1227 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Ova... |
ORPHA:314478 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency |
OMIM:617565 |
Leprechaunism |
|
Central hypothyroidism, Hepatomegaly, Long penis, Enlarged ovaries, Labial hypertrophy, Clitoral ... |
ORPHA:508 |
Meacham Syndrome |
|
Bicornuate uterus, Male pseudohermaphroditism, Septate vagina, Blind vagina |
OMIM:608978 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hypospadias, Abnormal penis morphology, Clitoral hypertrophy, Abnormal testis morphology, Ambiguo... |
ORPHA:2556 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadism, Cryptorchidism, De... |
ORPHA:3085 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum leptin, De... |
ORPHA:79085 |
Partial Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Hypospadias, Increased serum testosterone level, Abnormal ... |
ORPHA:90797 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Cervix cancer, Enlarged polycystic ovaries |
ORPHA:2869 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Increased circulating androstenedione concentration, Increase... |
ORPHA:90795 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... |
ORPHA:199310 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Urogenital sinus anomaly, Displacement of the urethral meatus, Abnor... |
ORPHA:2973 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Male hypogonadism |
OMIM:300055 |
Opitz Gbbb Syndrome |
|
Hypospadias, Bifid scrotum, Enlarged ovaries, Bicornuate uterus, Thyroglossal cyst, Cryptorchidis... |
ORPHA:2745 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
Generalized Glucocorticoid Resistance Syndrome |
|
Oligospermia, Adrenal hyperplasia, Infertility, Oligomenorrhea, Ambiguous genitalia, Female pseud... |
ORPHA:786 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... |
OMIM:194072 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum leptin, De... |
ORPHA:435651 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
Ovarian Fibroma |
|
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma |
ORPHA:314473 |
Campomelic Dysplasia |
|
Sex reversal |
OMIM:114290 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Abnormality of the urethra, Polycystic ovaries |
ORPHA:2795 |
Ataxia-Telangiectasia |
|
Type II diabetes mellitus, Polycystic ovaries, Abnormal testis morphology, Diabetes mellitus, Apl... |
ORPHA:100 |
Preeclampsia |
|
Polycystic ovaries, Type I diabetes mellitus |
ORPHA:275555 |
Testicular Agenesis |
|
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... |
ORPHA:325124 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum leptin, De... |
ORPHA:435660 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin-resistant diabetes mellitus, Maternal diabetes, Hyperinsulinemia, Polycystic ovaries |
OMIM:604367 |
Cowden Syndrome |
|
Abnormal penis morphology, Goiter, Endometrial carcinoma, Adenoma sebaceum, Neoplasm of the thyro... |
ORPHA:201 |
Boucher-Neuhauser Syndrome |
|
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration |
OMIM:215470 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Macroorchidism |
ORPHA:324410 |
Distal Monosomy 10P |
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Cryptorchidism, Hypoplasia of penis, Polycystic ovaries |
ORPHA:1580 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
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Insulin-resistant diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadism |
OMIM:268020 |
Satoyoshi Syndrome |
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Abnormality of the ovary, Hypoplasia of the ovary, Abnormality of the uterus, Nephrogenic diabete... |
ORPHA:3130 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
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Abnormal penis morphology, Goiter, Polycystic ovaries, Neoplasm of the thyroid gland, Abnormal te... |
ORPHA:457059 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
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Hypospadias, Macroorchidism |
OMIM:618874 |
Donohue Syndrome |
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Long penis, Pancreatic islet-cell hyperplasia, Clitoral hypertrophy, Precocious puberty, Hyperins... |
OMIM:246200 |
Congenital Generalized Lipodystrophy |
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Hepatomegaly, Precocious puberty in females, Polycystic ovaries, Clitoral hypertrophy, Overgrowth... |
ORPHA:528 |
Trisomy 20P |
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Hypospadias, Macroorchidism, Cryptorchidism |
ORPHA:261318 |
Pagod Syndrome |
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Abnormal morphology of female internal genitalia, Abnormality of the uterus, Agonadism, Abnormal ... |
ORPHA:991 |
Müllerian Aplasia And Hyperandrogenism |
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Abnormality of the ovary, Increased serum testosterone level, Abnormal vagina morphology, Hypopla... |
ORPHA:247768 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Macroorchidism, Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thyroid-stimulati... |
ORPHA:90674 |
X-Linked Intellectual Disability, Snyder Type |
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Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism |
ORPHA:3063 |
Carney Complex |
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Oligospermia, Macroorchidism, Testicular adrenal rest tumor, Ovarian serous cystadenoma, Euthyroi... |
ORPHA:1359 |
Congenital Factor Vii Deficiency |
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Ovarian cyst |
ORPHA:327 |
Burkitt Lymphoma |
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Abnormality of the ovary |
ORPHA:543 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Hypoplastic labia minora, Central hypothyroidism, Central adrenal insufficiency, Premature adrena... |
ORPHA:98754 |
Congenital Fibrinogen Deficiency |
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Hemorrhagic ovarian cyst, Right ventricular hypertrophy, Left ventricular hypertrophy, Micropenis... |
ORPHA:335 |
Cowden Syndrome 6 |
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Goiter, Ovarian cyst, Thyroid adenoma, Varicocele, Hyperthyroidism, Thyroiditis, Hypothyroidism, ... |
OMIM:615109 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Hypoplastic labia minora, Central hypothyroidism, Central adrenal insufficiency, Premature adrena... |
ORPHA:98793 |
Cowden Syndrome 5 |
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Goiter, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Hydrocele te... |
OMIM:615108 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Hypoplastic labia minora, Central hypothyroidism, Central adrenal insufficiency, Premature adrena... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Hypoplastic labia minora, Central hypothyroidism, Central adrenal insufficiency, Premature adrena... |
ORPHA:177901 |
Cowden Syndrome 1 |
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Goiter, Ovarian cyst, Thyroid adenoma, Varicocele, Hyperthyroidism, Thyroiditis, Ovarian carcinom... |
OMIM:158350 |
Proteus Syndrome |
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Ovarian neoplasm, Macroorchidism, Thymus hyperplasia, Diabetes insipidus, Long penis, Neoplasm of... |
ORPHA:744 |
Pparg-Related Familial Partial Lipodystrophy |
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Hepatomegaly, Maternal diabetes, Insulin-resistant diabetes mellitus, Polycystic ovaries, Splenom... |
ORPHA:79083 |
Prader-Willi-Like Syndrome |
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Hypoplastic labia minora, Central hypothyroidism, Central adrenal insufficiency, Premature adrena... |
ORPHA:398073 |
Prader-Willi Syndrome |
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Hypoplastic labia minora, Central hypothyroidism, Central adrenal insufficiency, Hypoplastic labi... |
ORPHA:739 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Hepatomegaly, Polycystic ovaries, Diabetes mellitus, Splenomegaly |
ORPHA:2348 |
Familial Glucocorticoid Deficiency |
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Testicular adrenal rest tumor, Azoospermia, Precocious puberty, Cryptorchidism, Leydig cell neopl... |
ORPHA:361 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
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Polycystic ovaries, Gonadal dysgenesis |
ORPHA:1770 |
Primary Lipodystrophy |
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Polycystic ovaries, Type II diabetes mellitus, Splenomegaly |
ORPHA:90970 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Lacrimal gland aplasia, Streak ovary, Elevated circulating follicle stimulating hormone level, Po... |
ORPHA:572333 |
Fraser Syndrome |
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Hypospadias, Abnormal vagina morphology, Urethral atresia, Small scrotum, Bicornuate uterus, Vagi... |
ORPHA:2052 |
Peutz-Jeghers Syndrome |
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Neoplasm of the pancreas, Uterine neoplasm, Precocious puberty with Sertoli cell tumor, Ovarian cyst |
OMIM:175200 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
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Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst |
ORPHA:454840 |
Specc1L-Related Hypertelorism Syndrome |
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Female pseudohermaphroditism, Cryptorchidism, Shawl scrotum |
ORPHA:1519 |
Acquired Generalized Lipodystrophy |
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Insulin-resistant diabetes mellitus, Hepatomegaly, Polycystic ovaries, Hyperinsulinemia |
ORPHA:79086 |
Fibrous Dysplasia Of Bone |
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Precocious puberty in females, Thyroid carcinoma, Increased circulating cortisol level, Abnormali... |
ORPHA:249 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Premature thelarche, Polycystic ovaries, Nodular goiter, Type I diabetes mellitus |
ORPHA:371428 |
Proteus-Like Syndrome |
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Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly |
ORPHA:2969 |
Luscan-Lumish Syndrome |
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Polycystic ovaries |
OMIM:616831 |
Hypoplasminogenemia |
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Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
Lipodystrophy, Familial Partial, Type 2 |
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Hepatomegaly, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hyperinsulinemia, Labial p... |
OMIM:151660 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertro... |
OMIM:608594 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Hepatomegaly, Polycystic ovaries, Splenomegaly, Decreased adiponectin level, Diabetes mellitus, D... |
ORPHA:280365 |
Infantile Systemic Hyalinosis |
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Abnormality of the adrenal glands, Polycystic ovaries, Aplasia/Hypoplasia of the thymus |
ORPHA:2176 |
Cystic Echinococcosis |
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Hepatomegaly, Abnormality of the testis size, Ovarian cyst |
ORPHA:400 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertro... |
OMIM:269700 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney |
ORPHA:276280 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Hepatomegaly, Polycystic ovaries, Delayed puberty, Splenomegaly |
ORPHA:370 |
C Syndrome |
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Female pseudohermaphroditism, Cryptorchidism |
ORPHA:1308 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hepatomegaly, Polycystic ovaries, Delayed puberty, Splenomegaly |
ORPHA:264580 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Hypospadias, Bifid scrotum, Chordee, Vesicovaginal fistula, Labial hypoplasia, Abnormality of the... |
OMIM:201750 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Hepatomegaly, Polycystic ovaries, Splenomegaly |
ORPHA:79240 |
Chromosome 17Q12 Deletion Syndrome |
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Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Cryptorchidi... |
OMIM:614527 |
Orofaciodigital Syndrome I |
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Pancreatic cysts, Ovarian cyst |
OMIM:311200 |
Aspartylglucosaminuria |
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Macroorchidism |
ORPHA:93 |
Aspartylglucosaminuria |
|
Macroorchidism |
OMIM:208400 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hepatomegaly, Polycystic ovaries, Thyroiditis, Hypothyroidism, Delayed puberty, Enlarged kidney |
ORPHA:79259 |
Alström Syndrome |
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Oligospermia, Hyoplasia of the Leydig cells, Precocious puberty in females, Decreased response to... |
ORPHA:64 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Polycystic ovaries, Cardiomegaly |
ORPHA:137675 |
Williams Syndrome |
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Type II diabetes mellitus, Urethral stenosis, Hypogonadotropic hypogonadism, Polycystic ovaries, ... |
ORPHA:904 |