Partial Chromosome Y Deletion |
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Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
Spermatogenic Failure, X-Linked, 2 |
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Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Spermatogenic Failure 25 |
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Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
Spermatogenic Failure 63 |
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Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:619689 |
Spermatogenic Failure 32 |
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Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
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Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Spermatogenic Failure 57 |
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Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
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Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
Isochromosomy Yp |
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Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... |
ORPHA:98797 |
Spermatogenic Failure 30 |
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Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
Hypogonadism, Male |
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Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
Spermatogenic Failure 12 |
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Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
Isochromosomy Yq |
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Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar... |
ORPHA:98798 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
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Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... |
OMIM:614840 |
Spermatogenic Failure 84 |
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Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:620409 |
Spermatogenic Failure 65 |
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Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... |
OMIM:619712 |
Spermatogenic Failure, X-Linked, 3 |
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Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... |
OMIM:301059 |
Spermatogenic Failure 56 |
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Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:619515 |
Spermatogenic Failure 54 |
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Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
Spermatogenic Failure 40 |
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Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
Spermatogenic Failure 76 |
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Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... |
OMIM:620084 |
Spermatogenic Failure 80 |
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Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
Spinocerebellar Ataxia Type 32 |
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Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
Spinocerebellar Ataxia 32 |
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Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Spermatogenic Failure 51 |
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Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... |
OMIM:619177 |
Spermatogenic Failure 39 |
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Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... |
OMIM:618643 |
Spermatogenic Failure 47 |
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Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
Spermatogenic Failure 58 |
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Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... |
OMIM:619585 |
Spermatogenic Failure 48 |
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Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 1 |
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Cryptozoospermia, Oligozoospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 79 |
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Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella |
OMIM:620196 |
Spermatogenic Failure 11 |
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Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
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Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:614822 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
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Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
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Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
Isolated Follicle Stimulating Hormone Deficiency |
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Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... |
ORPHA:52901 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:612997 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:619828 |
Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
Spermatogenic Failure 8 |
|
Cryptozoospermia, Azoospermia, Oligozoospermia |
OMIM:613957 |
Kennedy Disease |
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Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Testicular Regression Syndrome |
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Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
Ring Chromosome Y Syndrome |
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Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,... |
ORPHA:261529 |
Spermatogenic Failure 44 |
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Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... |
OMIM:619044 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
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Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... |
OMIM:620103 |
Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... |
OMIM:618433 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... |
OMIM:308700 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
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Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea |
OMIM:614858 |
Kallmann Syndrome With Spastic Paraplegia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo... |
OMIM:308750 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
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Testicular atrophy, Decreased fertility |
OMIM:313200 |
46,Xy Complete Gonadal Dysgenesis |
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Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Premature Ovarian Failure 10 |
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Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... |
OMIM:612885 |
Congenital Bilateral Absence Of Vas Deferens |
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Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
Androgen Insensitivity, Partial |
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Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... |
OMIM:312300 |
46,Xx Ovotesticular Difference Of Sex Development |
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Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
Bone Marrow Failure Syndrome 5 |
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Short stature, Growth delay, Testicular atrophy, Hypogonadism |
OMIM:618165 |
Vas Deferens, Congenital Bilateral Aplasia Of |
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Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
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Azoospermia, Absent vas deferens, Male infertility |
OMIM:300985 |
Hemochromatosis, Type 1 |
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Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... |
OMIM:235200 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Testicular atrophy, Growth delay |
OMIM:613987 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Myotonic Dystrophy 1 |
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Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Aarskog-Scott Syndrome |
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Elevated circulating luteinizing hormone level, Failure to thrive, Testicular atrophy, Bilateral ... |
OMIM:305400 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... |
ORPHA:465508 |
Wolfram Syndrome 1 |
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Hypothyroidism, Testicular atrophy, Diabetes insipidus, Growth delay, Diabetes mellitus |
OMIM:222300 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... |
OMIM:157640 |
Lesch-Nyhan Syndrome |
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Short stature, Testicular atrophy |
OMIM:300322 |
X-Linked Intellectual Disability, Snyder Type |
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Abnormality of the Leydig cells, Cryptorchidism, Short stature, Hypospadias, Testicular atrophy |
ORPHA:3063 |
Steinert Myotonic Dystrophy |
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Male hypogonadism, Cholelithiasis, Decreased response to growth hormone stimulation test, Decreas... |
ORPHA:273 |
Fanconi Anemia, Complementation Group E |
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Short stature, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism |
OMIM:600901 |
Fanconi Anemia |
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Hypospadias, Abnormality of the hypothalamus-pituitary axis, Abnormality of the uterus, Hypogonad... |
ORPHA:84 |