Testes, Rudimentary |
|
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism |
OMIM:273150 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Oligospermia, Abnormal sperm morphology, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormal circulating hormone concentration, Bilateral cryptorchidism, Male infertility, Abnormali... |
OMIM:261550 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Micropenis, Cryptorchidism, Congenital adrenal hypoplasia |
OMIM:202150 |
Isochromosomy Yp |
|
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... |
ORPHA:98797 |
Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Diabetes mellitus, Hypergonadotropic ... |
OMIM:614963 |
46,Xy Sex Reversal 4 |
|
Sex reversal, Gonadal dysgenesis |
OMIM:154230 |
46,Xy Sex Reversal 10 |
|
Sex reversal, Gonadoblastoma, Dysgerminoma, Micropenis, Ambiguous genitalia, Decreased testicular... |
OMIM:616425 |
46,Xy Sex Reversal 8 |
|
Male pseudohermaphroditism, Ambiguous genitalia, Sex reversal, Cryptorchidism |
OMIM:614279 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Ambiguous genitalia, Increased circulating ACTH level |
OMIM:613571 |
46,Xy Sex Reversal 9 |
|
Fused labia minora, Ambiguous genitalia, Sex reversal, Gonadal dysgenesis |
OMIM:616067 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Decreased testicular size, Non-obstructive a... |
OMIM:619528 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Cone-Rod Dystrophy 1 |
|
Hypogonadism |
OMIM:600624 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Hypogonadotropic hypogonadism |
ORPHA:1180 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... |
OMIM:614840 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Thyroid Hormone Metabolism, Abnormal |
|
Elevated circulating thyroid-stimulating hormone concentration |
OMIM:609698 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Male infertility, Reduced progressiv... |
OMIM:619585 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenal insufficiency, Sex reversal, Adrenocorticotropic hormone excess, Hyperaldosteronism |
OMIM:613743 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... |
OMIM:612965 |
Hypersecretion Of Adrenal Androgens, Familial |
|
Increased circulating androgen concentration, Adrenal overactivity, Amenorrhea, Premature pubarche |
OMIM:145295 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... |
ORPHA:90797 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... |
OMIM:228300 |
Adrenal Hypoplasia, Cytomegalic Type |
|
Primary adrenal insufficiency, Congenital adrenal hypoplasia |
OMIM:202155 |
46,Xy Sex Reversal 1 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level, Gonadoblastoma, Absence of... |
OMIM:400044 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Deafness, Congenital, With Total Albinism |
|
Hypogonadism |
OMIM:220900 |
46,Xy Sex Reversal 11 |
|
Vanishing testis, Gonadal dysgenesis with female appearance, male, Aplasia of the uterus, Decreas... |
OMIM:273250 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
46,Xy Sex Reversal 5 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Leydig Cell Hypoplasia |
|
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... |
ORPHA:755 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hy... |
OMIM:614841 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Aplasia/hypoplasia of the uterus, Absence of secondary sex characteristics, Increas... |
ORPHA:2232 |
Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
Pituicytoma |
|
Increased circulating prolactin concentration, Amenorrhea, Hypogonadotropic hypogonadism, Pituita... |
ORPHA:251623 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... |
OMIM:146110 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... |
OMIM:618841 |
46,Xx Sex Reversal 3 |
|
Sex reversal |
OMIM:300833 |
46,Xy Sex Reversal 2 |
|
Sex reversal |
OMIM:300018 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
Oocyte Maturation Defect 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating progesterone, Hypospadias, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
Prader-Willi syndrome (Type 1) |
|
Hypogonadism |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Hypogonadism |
DECIPHER:53 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism |
ORPHA:1014 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
X-Linked Intellectual Disability, Van Esch Type |
|
Type II diabetes mellitus, Absence of secondary sex characteristics, Increased circulating gonado... |
ORPHA:163976 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia, Hypercholesterolemia, Hypertri... |
OMIM:615703 |
46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... |
ORPHA:90791 |
Spermatogenic Failure 18 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Spermatogenic Failure 35 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sex reversal, Gonadoblastoma, Chordee, Dysgerminoma, Clitoral hypertrophy |
OMIM:613762 |
Complete Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Increased serum testosterone level, Aplasia of the uterus,... |
ORPHA:99429 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome, Ambiguous genitalia, Primary amenorrhea, Male pseudo... |
OMIM:202110 |
Adrenal Hypoplasia, Congenital |
|
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... |
OMIM:300200 |
46,Xx Sex Reversal 1 |
|
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... |
OMIM:400045 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Increased circulating gonadotropin level, Hypogonadism, Cryptorchidism, Decreased testicular size... |
OMIM:300869 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Polyembryoma |
|
Macroorchidism, Increased serum testosterone level, Increased serum serotonin, Abnormality of the... |
ORPHA:180229 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Hypogonadism, Delayed puberty |
OMIM:615270 |
Generalized Glucocorticoid Resistance Syndrome |
|
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, O... |
ORPHA:786 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Functioning Gonadotropic Adenoma |
|
Abnormal prolactin level, Oligospermia, Increased serum testosterone level, Abnormality of the me... |
ORPHA:91348 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypospadias, Absence of secondary sex characteristics, Increased circulating gonadotropin level, ... |
ORPHA:163971 |
Mccune-Albright Syndrome |
|
Macroorchidism, Increased serum testosterone level, Goiter, Primary hypercortisolism, Increased c... |
ORPHA:562 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hypospadias, Adrenal hyperplasia, Bifid scrotum, Absent scrotum, Micropenis, Ambiguous genitalia,... |
OMIM:201810 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormality of thalamus morphology, Leukoencephalopathy, Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
47,Xyy Syndrome |
|
Hypospadias, Macroorchidism, Increased serum testosterone level, Oligospermia, Azoospermia, Incre... |
ORPHA:8 |
Craniopharyngioma |
|
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Cerebral calc... |
ORPHA:54595 |
Ovarian Dysgenesis 9 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... |
OMIM:619665 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Testicular dysgenesis, Micropenis, Ambiguous genitalia, Perineal hypospadias, Cryptorchidism, Mic... |
OMIM:615542 |
Premature Ovarian Failure 17 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... |
OMIM:619146 |
Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Hypoplasia of the ovary, Streak ovary, Premature ovarian insuffici... |
OMIM:611548 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:616030 |
46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Sex reversal |
ORPHA:85112 |
Non-Functioning Pituitary Adenoma |
|
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... |
ORPHA:91349 |
Precocious Puberty, Male-Limited |
|
Precocious puberty in males, Decreased testicular size |
OMIM:176410 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... |
OMIM:612310 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... |
ORPHA:90796 |
49,Xxxyy Syndrome |
|
External genital hypoplasia, Increased circulating gonadotropin level, Micropenis, Male hypogonad... |
ORPHA:261534 |
Mental Retardation, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:619613 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Premature ovarian insufficiency, Elevated circulating follicle sti... |
OMIM:618723 |
Central Precocious Puberty |
|
Hypothalamic hamartoma, Isosexual precocious puberty, Premature thelarche, Increased circulating ... |
ORPHA:759 |
Gordon Holmes Syndrome |
|
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea |
OMIM:212840 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism |
OMIM:615988 |
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 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Increased serum testosterone level, Gonadal dys... |
ORPHA:206484 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
Spastic Paraparesis And Deafness |
|
Hypogonadism |
OMIM:312910 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronism, Decreased circulating renin level |
OMIM:103900 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Primary amenorrhea, Gonadal dysgenesis, Hypergonadotropic hypogonadism |
OMIM:607080 |
Premature Ovarian Failure 18 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... |
OMIM:619203 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Micropenis, Hypoplasia of penis, Cryptorchidism |
ORPHA:85274 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Micropenis, Decreased testicular size, Cryptorchidism |
OMIM:614880 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... |
ORPHA:432 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Hypogonadism |
OMIM:254000 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Mental Retardation, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... |
ORPHA:289548 |
Frasier Syndrome |
|
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... |
ORPHA:347 |
Serkal Syndrome |
|
Hypospadias, Abnormal penis morphology, Sex reversal, Abnormality of the adrenal glands |
ORPHA:139466 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Increased circulating androstenedione concentration, Testicul... |
ORPHA:90795 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... |
ORPHA:168558 |
Hyperprolactinemia |
|
Menorrhagia, Infertility, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism |
OMIM:615989 |
Cataract-Deafness-Hypogonadism Syndrome |
|
Hypogonadism |
ORPHA:1383 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Met... |
ORPHA:314478 |
Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility |
ORPHA:481 |
Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:240950 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism |
OMIM:612702 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Spontaneous abortion, Clitoral hypertrophy, Congenital adrena... |
ORPHA:96181 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration |
OMIM:201100 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decreased circu... |
ORPHA:453533 |
49,Xyyyy Syndrome |
|
Azoospermia, External genital hypoplasia, Increased circulating gonadotropin level, Male hypogona... |
ORPHA:99330 |
Familial Hyperprolactinemia |
|
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism |
ORPHA:397685 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... |
OMIM:194072 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... |
OMIM:300510 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g... |
ORPHA:85327 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Hypoplasia of the ovary, Abse... |
ORPHA:2235 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Premature ovarian insufficiency, Decreased serum testosterone concentration |
ORPHA:101006 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Micropenis, Decreased testicular size, Hypergonadotropic hypogonadism |
OMIM:601217 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Dystonia 30 |
|
Hypothalamic hamartoma, Globus pallidus hypointensity on susceptibility-weighted imaging, Diffuse... |
OMIM:619291 |
Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, ... |
ORPHA:280356 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Macroorchidism, Hyperactive renin-angiotensin system, Endometrial carcinoma,... |
ORPHA:90790 |
Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Pituitary hypot... |
ORPHA:95619 |
Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... |
OMIM:618086 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 level, D... |
ORPHA:171706 |
Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Micropenis, External genital hypoplasia |
OMIM:615983 |
Perrault Syndrome 2 |
|
Streak ovary |
OMIM:614926 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... |
OMIM:202010 |
Image Syndrome |
|
Hypospadias, Cryptorchidism, Hypogonadism, Adrenal hypoplasia |
ORPHA:85173 |
Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... |
ORPHA:1501 |
Paternal Uniparental Disomy Of Chromosome X |
|
Micropenis, Infertility, Decreased testicular size |
ORPHA:261524 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Septopreoptic Holoprosencephaly |
|
Perisylvian polymicrogyria, Megalencephaly, Abnormal corpus callosum morphology, Abnormality of t... |
ORPHA:280195 |
Leopard Syndrome 1 |
|
Hypospadias, Hypoplasia of the ovary, Aplasia of the ovary, Micropenis, Cryptorchidism, Delayed m... |
OMIM:151100 |
Testicular Agenesis |
|
Vanishing testis, Urethrovaginal fistula, Absent testis, Increased circulating gonadotropin level... |
ORPHA:325124 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Male pseudohermaphroditism, Infertility, Female external genitalia in individual with 46,XY karyo... |
OMIM:264300 |
Wolfram-Like Syndrome |
|
Male hypogonadism, Diabetes mellitus, Hypothyroidism, Central diabetes insipidus, Primary gonadal... |
ORPHA:411590 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic Adhesion, Micropenis, Cryptorchidism, Agenesis of corpus callosum, Supernumerar... |
OMIM:618929 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency |
OMIM:617565 |
Leukoencephalopathy With Vanishing White Matter |
|
Secondary amenorrhea, Primary amenorrhea, Decreased circulating progesterone, Premature ovarian i... |
OMIM:603896 |
Spastic Paraparesis-Deafness Syndrome |
|
Hypogonadism |
ORPHA:2815 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Adrenal gland agenesis, Ovotestis, Sex reversal |
OMIM:611812 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614897 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency, Central diabet... |
ORPHA:91354 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Aplas... |
ORPHA:754 |
Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elevated circulatin... |
OMIM:176400 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating progesterone, Increased serum testosterone level, Aplasia of the uterus, Hy... |
ORPHA:90794 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301033 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Type II diabetes mellitus, Hyperlipidemia, Ambiguous genitalia, fem... |
ORPHA:91 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating aldosterone level, Adrenal insufficiency, Testicular adrenal rest tumor, Co... |
ORPHA:361 |
Limb-Mammary Syndrome |
|
Aplasia of the uterus, Hypoplastic nipples, Aplasia of the ovary, Bilateral breast hypoplasia, Br... |
ORPHA:69085 |
Deafness, Conductive, With Malformed External Ear |
|
Hypogonadism |
OMIM:221300 |
46,Xx Gonadal Dysgenesis |
|
Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of the uterus, Increased circulating gonad... |
ORPHA:243 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume, Hypoplasia of the olfactory bulb, Abnormality of the basal ganglia |
OMIM:618646 |
46,Xx Sex Reversal 5 |
|
Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly |
OMIM:618901 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadism, Central hypothyroidism |
OMIM:616113 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Pituitary hypothyroi... |
ORPHA:157954 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
Xq27.3Q28 Duplication Syndrome |
|
Hypogonadism, Cryptorchidism, Decreased testicular size, Premature ovarian insufficiency |
ORPHA:261483 |
Autoimmune Polyendocrinopathy Type 1 |
|
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... |
ORPHA:3453 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Sex reversal, Micropenis, Ambiguous genitalia, Aplasia/Hypoplasia of the corpus call... |
OMIM:612651 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormal corpus striatum morphology, Abnormal globus pallidus morphology, Abnormal caudate nucleu... |
ORPHA:397725 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Diabetes mellitus, Cryptorchidism,... |
OMIM:610628 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Adenohypophysitis |
|
Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, Decreased circulating c... |
ORPHA:95512 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size |
ORPHA:1875 |
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Small scrotum, Abnormality of the endocrine system, Urogenital sinus anomaly, Ambi... |
ORPHA:753 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, External genital hypoplasia |
OMIM:615996 |
Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Irregular menstruation, Increased urinary cortisol level, Type II diabetes m... |
ORPHA:189439 |
Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Increased circulating gonadotropin level, Decreased serum estradiol, Bic... |
OMIM:615300 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Decreased circul... |
ORPHA:95513 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Micropenis, Primary amenorrhea, Decreased serum leptin, Decreased testicular size |
OMIM:614962 |
Non-Acquired Panhypopituitarism |
|
Abnormal prolactin level, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, Decreased resp... |
ORPHA:90695 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism |
OMIM:615987 |
Biemond Syndrome Type 2 |
|
Hypospadias, Hypogonadotropic hypogonadism, Hypogonadism, Delayed puberty |
ORPHA:141333 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Hypogonadism, Panhypopituitarism, Hypothyroidism, Reduced circulating prol... |
OMIM:262600 |
Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Oligomenorrhea |
OMIM:604931 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... |
OMIM:300888 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Agenesis of corpus callosum, Microcephaly, Abnormality of the p... |
ORPHA:314621 |
Myotonic Dystrophy 2 |
|
Hypogonadism, Oligospermia, Diabetes mellitus, Elevated circulating follicle stimulating hormone ... |
OMIM:602668 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Hypogonadotropic hypogonadism, Decreased serum estradiol, Primary amenorrhea, Hypergonadotropic h... |
OMIM:604168 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Increased serum testosterone level, Abnormal vagina morphology, Primary... |
ORPHA:247768 |
Pituitary Carcinoma |
|
Increased circulating prolactin concentration, Enlarged pituitary gland, Diabetes insipidus, Pitu... |
ORPHA:300385 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty |
ORPHA:217377 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... |
ORPHA:404 |
Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperlipidemia, Hypogonadotropic hypogonadism, Hypo... |
OMIM:241080 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... |
ORPHA:403 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tu... |
ORPHA:3464 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Hydatidiform Mole, Recurrent, 4 |
|
Recurrent spontaneous abortion, Female infertility |
OMIM:618432 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614839 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland, Secondary microcephaly, Hypoplasia of the corpus callosum, Diffuse cerebra... |
OMIM:617395 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,... |
ORPHA:465508 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Oocyte Maturation Defect 10 |
|
Female infertility, Spontaneous abortion |
OMIM:619176 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... |
OMIM:219080 |
Diabetes Insipidus, Neurohypophyseal |
|
Central diabetes insipidus, Decreased circulating osteocalcin level |
OMIM:125700 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Hypogonadi... |
ORPHA:91351 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Primary adrenal insufficiency, Hypogonadism, Type I diabetes mellitus, Abnorm... |
ORPHA:3143 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism |
OMIM:612370 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Oligospermia, Cryptorchidism |
OMIM:314300 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
Hypergonadotropic hypogonadism |
ORPHA:88637 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Increased circulat... |
ORPHA:2410 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Pituitary adenoma, Hyperthyroidism, Hyperparathyroidism, El... |
OMIM:174800 |
Pallister-Hall-Like Syndrome |
|
Hypothalamic hamartoma, Micropenis, Anterior hypopituitarism |
OMIM:241800 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Hypogonadism, Adrenal insufficiency, Delayed puberty, Central adrenal insufficiency |
OMIM:612079 |
Bardet-Biedl Syndrome 4 |
|
Hypogonadism, Cryptorchidism, External genital hypoplasia |
OMIM:615982 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Increased circulating cortiso... |
OMIM:615954 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating progesterone, Adrenal hyperplasia, Oligospermia, Hypospadias, Fused labia m... |
ORPHA:95699 |
Classic Galactosemia |
|
Decreased fertility in females, Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-lik... |
ORPHA:79239 |
Thyroid Hormone Resistance, Selective Pituitary |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... |
OMIM:145650 |
Pituitary Stalk Interruption Syndrome |
|
Diabetes insipidus, Septo-optic dysplasia, Abnormality of the hypothalamus-pituitary axis, Adrena... |
ORPHA:95496 |
Isolated Growth Hormone Deficiency, Type Iv |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased s... |
OMIM:618157 |
Hyperthyroidism, Familial Gestational |
|
Hyperthyroidism, Increased circulating T4 level, Decreased thyroid-stimulating hormone level |
OMIM:603373 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating follicle stimulating hormone level, Type I diabetes mellitus, Breast aplasia... |
ORPHA:3044 |
Culler-Jones Syndrome |
|
Diabetes insipidus, Hypogonadism, Micropenis, Anterior pituitary hypoplasia, Cryptorchidism, Hypo... |
OMIM:615849 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Diabetes mel... |
OMIM:615830 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Polycystic ovaries |
ORPHA:1643 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Abnormal prolactin level, Septo-optic dysplasia, Hypogonadotropic hypogonadism, Pituitary hypothy... |
ORPHA:95494 |
Diethylstilbestrol Syndrome |
|
Testicular dysgenesis, Hypospadias, Decreased fertility in females, Abnormal reproductive system ... |
ORPHA:1916 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Precocious puberty |
OMIM:300801 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Satoyoshi Syndrome |
|
Abnormality of the ovary, Hypoplasia of the ovary, Abnormality of the uterus, Nephrogenic diabete... |
ORPHA:3130 |
Crandall Syndrome |
|
Hypogonadism, Abnormal testis morphology, Hypoplasia of penis |
ORPHA:202 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Polycysti... |
ORPHA:90301 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Female infertility, Mitochondrial hypertrophy, Premature ovarian insufficiency |
OMIM:619518 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Anterior hypopituitarism, Diabetes insipidus, Hypogonadotropic hypogona... |
ORPHA:91350 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... |
ORPHA:1227 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Thyroid hypoplasia, Inappropriately normal thyroid-stimulating hormone level, Decreased circulati... |
OMIM:301035 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Male hypogonadism |
OMIM:300055 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf... |
OMIM:110100 |
Björnstad Syndrome |
|
Hypogonadism |
ORPHA:123 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the corpus callosum, Cerebral ... |
OMIM:619072 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal substantia nigra morph... |
ORPHA:2822 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thyroid-stimulati... |
ORPHA:90674 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Caudate atrophy, Leukoencephalopathy, Basal ganglia calcification, T2 hypointense thalamus, Hypop... |
OMIM:618193 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hypoplasia of the corpus callosum, Cortical dysplasia, Precocious puberty, Microcephaly |
ORPHA:457260 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... |
OMIM:305400 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... |
ORPHA:199310 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Abnormal testis morphology, Decreased fertility |
ORPHA:2233 |
Bardet-Biedl Syndrome 16 |
|
Hypogonadism, External genital hypoplasia |
OMIM:615993 |
46,Xy Ovotesticular Disorder Of Sex Development |
|
True hermaphroditism, Bifid scrotum, Gonadoblastoma, Chordee, Abnormality of the male genitalia, ... |
ORPHA:325345 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia |
OMIM:602390 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hy... |
OMIM:275200 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... |
ORPHA:251274 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
Prolactinoma |
|
Central adrenal insufficiency, Adrenocorticotropic hormone deficiency, Hypogonadotropic hypogonad... |
ORPHA:2965 |
Rudiger Syndrome |
|
Bicornuate uterus, Micropenis, Ovarian cyst |
OMIM:268650 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
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Pituitary hypothyroidism, Gonadotropin deficiency, Anterior pituitary hypoplasia, Hypothalamic lu... |
ORPHA:231720 |
Asherman Syndrome |
|
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
Lead Poisoning |
|
Oligospermia, Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormality of the ... |
ORPHA:330015 |
Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, Cryptorchidism, External genital hypoplasia |
ORPHA:363741 |
Pituitary Adenoma 1, Multiple Types |
|
Increased serum insulin-like growth factor 1, Pituitary growth hormone cell adenoma, Pituitary ad... |
OMIM:102200 |
Methemoglobinemia And Ambiguous Genitalia |
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Hypospadias, Bifid scrotum, Micropenis, Ambiguous genitalia, Male pseudohermaphroditism |
OMIM:250790 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Elevated circulating follicle stimu... |
ORPHA:572333 |
Pituitary Gigantism |
|
Type II diabetes mellitus, Increased serum insulin-like growth factor 1, Premature pubarche, Pitu... |
ORPHA:99725 |
Premature Ovarian Failure 7 |
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Elevated circulating follicle stimulating hormone level, Clitoral hypertrophy, Premature ovarian ... |
OMIM:612964 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal cerebral cortex morphology, Abnormal hypothalamus morphology, Encephalomalacia, Abnormal... |
ORPHA:68 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... |
ORPHA:280679 |
Temple Syndrome |
|
Cryptorchidism, Type II diabetes mellitus, Precocious puberty, Decreased response to growth hormo... |
ORPHA:254516 |
Frasier Syndrome |
|
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis |
OMIM:136680 |
Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Hypogonadism, Obesity, Cryptorchidism, Hypoplasia of penis |
ORPHA:110 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypogonadism, Primary adrenal insufficiency |
OMIM:617872 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hypospadias, Insulin-resistant diabetes mellitus, Neoplasm of the pancreas, Decreased serum estra... |
ORPHA:2959 |
Alg6-Cdg |
|
Increased circulating androgen concentration, Puberty and gonadal disorders |
ORPHA:79320 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia |
OMIM:618300 |
Carney Complex |
|
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... |
ORPHA:1359 |
Moynahan Syndrome |
|
Hypogonadism |
ORPHA:2574 |
Microphthalmia, Syndromic 3 |
|
Hypospadias, Hypothalamic hamartoma, Hypogonadotropic hypogonadism, Micropenis, Anterior pituitar... |
OMIM:206900 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... |
OMIM:235200 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadism, Obesity, Cryptorch... |
ORPHA:3085 |
Myxedema |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Goiter |
OMIM:255900 |
Bardet-Biedl Syndrome 2 |
|
Hypogonadism, External genital hypoplasia, Diabetes mellitus |
OMIM:615981 |
X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Hypogonadism |
ORPHA:85283 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Hypogonadism |
ORPHA:2528 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... |
ORPHA:231580 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypoplastic labia minora, Central hypothyroidism, Type II diabetes mellitus, Premature adrenarche... |
ORPHA:398079 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Type II diabetes mellitus, Small scrotum, Hypogonadism, Abnormality of the thyroid gland, Hypopla... |
ORPHA:2234 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Basal ganglia calcification, Thalamic calcification |
OMIM:618824 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Hypogonadism |
OMIM:615985 |
Lessel-Kubisch Syndrome |
|
Hypogonadism |
OMIM:618681 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Hypogonadism |
OMIM:615768 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism |
ORPHA:369929 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Micropenis, Decreased testicular size |
OMIM:614838 |
Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic hypogonadism |
OMIM:614129 |
Cog2-Cdg |
|
Small pituitary gland, Secondary microcephaly, Hypoplasia of the corpus callosum, Diffuse cerebra... |
ORPHA:435934 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hypogonadism, Cryptorchidism |
OMIM:601794 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Hypogonadism |
ORPHA:3216 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Cryptorchidism, Precocious puberty, Congenital hypothyroidism |
OMIM:614736 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Insulin-resistant diabetes mellitus, Polycystic ovaries, Cerebral atrophy, Hypergonadotropic hypo... |
OMIM:268020 |
Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Hemorrhagic ovarian cyst, Increased circulating gonadotropin ... |
ORPHA:64739 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Diabetes insipidus, Hypogonadism, Diabetes mellitus, Hypoplasia of penis |
ORPHA:181393 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Hypogonadism, Abnormal testis morphology, Primary testicular failure, Male infertility |
ORPHA:85450 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Abnormality of the diencephalon, Microcephaly, Aplasia/Hypoplasia of the corpus ... |
ORPHA:2570 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries, Diabetes mellitus |
OMIM:608709 |
Denys-Drash Syndrome |
|
Male pseudohermaphroditism, Gonadal dysgenesis |
ORPHA:220 |
Pmm2-Cdg |
|
Hypogonadotropic hypogonadism, Aplasia of the ovary, Elevated circulating thyroid-stimulating hor... |
ORPHA:79318 |
Pituitary Hormone Deficiency, Combined, 3 |
|
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Anterior pituitar... |
OMIM:221750 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Polycystic ovaries, Diabetes mellitus |
ORPHA:79084 |
Bardet-Biedl Syndrome 7 |
|
Hypogonadism |
OMIM:615984 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Cerebral atrophy |
OMIM:619057 |
Pituitary Apoplexy |
|
Increased circulating prolactin concentration, Hypergonadotropic hypogonadism, Increased circulat... |
ORPHA:95613 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Decreased serum testosterone concentration |
OMIM:609195 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypoplastic labia minora, Premature adrenarche, Decreased inhibin B level, Anterior pituitary hyp... |
ORPHA:98754 |
Cach Syndrome |
|
Dysgyria, Premature ovarian insufficiency, Cerebral atrophy, Dilation of lateral ventricles, T2 h... |
ORPHA:135 |
Sheehan Syndrome |
|
Central adrenal insufficiency, Oligomenorrhea, Abnormal size of pituitary gland, Decreased circul... |
ORPHA:91355 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Hypogonadism |
OMIM:251240 |
Gangliocytoma |
|
Abnormal prolactin level, Abnormality of the pituitary gland, Pituitary prolactin cell adenoma, E... |
ORPHA:251937 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Decreased circula... |
ORPHA:293978 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism |
OMIM:244200 |
Campomelic Dysplasia |
|
Sex reversal |
OMIM:114290 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypoplastic labia minora, Premature adrenarche, Decreased inhibin B level, Anterior pituitary hyp... |
ORPHA:98793 |
Spermatogenic Failure 4 |
|
Recurrent spontaneous abortion, Azoospermia |
OMIM:270960 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hypogonadism, Abnormal testis morphology, Hypoplasia of penis, Hyperin... |
ORPHA:791 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Microcephaly, Cryptorchidism, Precocious puberty, Supernumerary nipple |
OMIM:619243 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Hypogonadism |
OMIM:615267 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia |
OMIM:615234 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Infertility, Goiter |
OMIM:617577 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypoplastic labia minora, Premature adrenarche, Decreased inhibin B level, Anterior pituitary hyp... |
ORPHA:177904 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Supe... |
ORPHA:1173 |
Giant Axonal Neuropathy |
|
Abnormality of the pituitary gland |
ORPHA:643 |
Preeclampsia |
|
Increased body mass index, Polycystic ovaries, Type I diabetes mellitus, Small for gestational age |
ORPHA:275555 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Long penis, Insulin-resistant diabetes mellitus, Enlarged ova... |
ORPHA:769 |
Hemochromatosis Type 2 |
|
Hypogonadism, Abnormality of endocrine pancreas physiology, Diabetes mellitus, Impotence |
ORPHA:79230 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypoplastic labia minora, Premature adrenarche, Decreased inhibin B level, Anterior pituitary hyp... |
ORPHA:177901 |
Tsh-Secreting Pituitary Adenoma |
|
Central adrenal insufficiency, Enlarged pituitary gland, Goiter, Hypogonadotropic hypogonadism, D... |
ORPHA:91347 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased circulating T4 level, Decreased thyroid-stimulating hormone level, Abnormality of thyro... |
ORPHA:95715 |
Septooptic Dysplasia |
|
Diabetes insipidus, Absent septum pellucidum, Anterior pituitary hypoplasia, Decreased response t... |
OMIM:182230 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism |
OMIM:617119 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Absent hippocampal commissure, Agenesis of corpus callosum,... |
OMIM:617542 |
Denys-Drash Syndrome |
|
Ovarian gonadoblastoma, True hermaphroditism, Ambiguous genitalia, female, Ambiguous genitalia, m... |
OMIM:194080 |
Meningioma |
|
Enlarged pituitary gland, Amenorrhea, Decreased circulating cortisol level, Hypothalamic hypothyr... |
ORPHA:2495 |
Ataxia-Telangiectasia |
|
Type II diabetes mellitus, Failure to thrive, Polycystic ovaries, Abnormal testis morphology, Dia... |
ORPHA:100 |
Prader-Willi Syndrome |
|
Hypoplastic labia minora, Hypoplastic labia majora, Central hypothyroidism, Perisylvian polymicro... |
ORPHA:739 |
Currarino Syndrome |
|
Hypospadias, Male pseudohermaphroditism, Hypoplasia of penis, Bifid scrotum |
ORPHA:1552 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism |
ORPHA:324410 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Hypogonadism |
OMIM:268050 |
Familial Thyroid Dyshormonogenesis |
|
Congenital hypothyroidism, Goiter, Increased radioactive iodine uptake, Decreased circulating T4 ... |
ORPHA:95716 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 level |
ORPHA:95717 |
Gapo Syndrome |
|
Hypogonadism, Oligospermia, Dysmenorrhea, Amenorrhea |
ORPHA:2067 |
Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
Slc35A2-Cdg |
|
Cerebral white matter atrophy, Cortical dysplasia, Abnormal cerebral white matter morphology, Ele... |
ORPHA:356961 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Abnormal cortical gyration, Abnormal vagina morphology, Arrhinencephaly, Bifid uteru... |
OMIM:236680 |
Prader-Willi-Like Syndrome |
|
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... |
ORPHA:398073 |
Insulin-Resistance Syndrome Type B |
|
Abnormal salivary gland morphology, Increased serum testosterone level, Type II diabetes mellitus... |
ORPHA:2298 |
Hemochromatosis, Type 2B |
|
Hypogonadism, Secondary amenorrhea |
OMIM:613313 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hypogonadism, Testicular seminoma, Cryptorchidism |
ORPHA:281090 |
Igg4-Related Thyroid Disease |
|
Goiter, Nodular goiter, Abnormality of the pituitary gland, Euthyroid goiter, Thyrotoxicosis with... |
ORPHA:64744 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating renin level, Decreased circulating aldosterone level, Increased circulating... |
OMIM:610600 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Hypospadias, Agenesis of corpus callosum, Dysplastic corpus callosum, Streak ovary, Chordee, Colp... |
OMIM:618820 |
Cushing Disease |
|
Adrenal hyperplasia, Secondary amenorrhea, Increased urinary cortisol level, Oligomenorrhea, Amen... |
ORPHA:96253 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cryptorchidism, Abnormality of thalamus morphology |
ORPHA:404440 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal penis morphology, Goiter, Polycystic ovaries, Neoplasm of the thyroid gland, Abnormal te... |
ORPHA:457059 |
Proprotein Convertase 1/3 Deficiency |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating cortisol level |
OMIM:600955 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Gonadal dysgenesis, male, Cryptorchidism, Male pseudohermaphroditism, Microcephaly |
ORPHA:2075 |
Microgastria-Limb Reduction Defects Association |
|
Arrhinencephaly, Splenogonadal fusion, Absent gallbladder, Bicornuate uterus, Polymicrogyria, Por... |
OMIM:156810 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Secondary amenorrhea, Atypical pulmonary carcinoid tumor, Neoplasm of the th... |
ORPHA:99889 |
Pallister-Hall Syndrome |
|
Hypothalamic hamartoma, Decreased response to growth hormone stimulation test, Neonatal death, Pr... |
OMIM:146510 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypoplastic labia minora, Central hypothyroidism, Type II diabetes mellitus, Small scrotum, Exter... |
ORPHA:398069 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Macroorchidism |
OMIM:618874 |
Multiple Endocrine Neoplasia, Type I |
|
Adrenocortical adenoma, Adenoma sebaceum, Increased circulating cortisol level, Insulinoma, Thyro... |
OMIM:131100 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogonadotropic hypogonadism, ... |
ORPHA:226307 |
Rhombencephalosynapsis |
|
Abnormality of the uterus, Fusion of the left and right thalami, Septo-optic dysplasia |
ORPHA:59315 |
Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 level |
ORPHA:94086 |
Holoprosencephaly 5 |
|
Central diabetes insipidus, Dilation of lateral ventricles, Microcephaly |
OMIM:609637 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Late-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556037 |
Wolfram Syndrome 1 |
|
Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Hypothyroidism |
OMIM:222300 |
Chondrodysplasia-Disorder Of Sex Development Syndrome |
|
Cerebral hypoplasia, Male pseudohermaphroditism, Microcephaly |
ORPHA:1422 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Central diabetes insipidus |
OMIM:304900 |
Trisomy 20P |
|
Hypospadias, Macroorchidism, Cryptorchidism |
ORPHA:261318 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Abnormality of the urethra, Polycystic ovaries |
ORPHA:2795 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 level, C... |
ORPHA:226313 |
Nivelon-Nivelon-Mabille Syndrome |
|
Male pseudohermaphroditism, Thin corpus callosum, Microcephaly |
OMIM:600092 |
Early-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556030 |
X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism |
ORPHA:3063 |
Oculocerebrodental Syndrome |
|