Partial Chromosome Y Deletion |
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Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
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 |
Spermatogenic Failure 25 |
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Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
Spermatogenic Failure 30 |
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Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
Spermatogenic Failure, X-Linked, 2 |
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Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Deafness-Infertility Syndrome |
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Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
Spermatogenic Failure 59 |
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Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
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Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
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Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
Spermatogenic Failure 73 |
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Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
Spermatogenic Failure 48 |
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Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
Hypogonadism, Male |
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Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
Spermatogenic Failure 62 |
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Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
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Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
Spermatogenic Failure 88 |
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Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
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 |
46,Xx Testicular Difference Of Sex Development |
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Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Isolated Follicle Stimulating Hormone Deficiency |
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Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
Ring Chromosome Y Syndrome |
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Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
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Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
Spinocerebellar Ataxia 32 |
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Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Spinocerebellar Ataxia Type 32 |
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Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
Familial Hyperprolactinemia |
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Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia |
ORPHA:397685 |
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 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
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Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
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Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
Spermatogenic Failure 15 |
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Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... |
OMIM:616950 |
Gonadoblastoma |
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Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... |
ORPHA:206484 |
46,Xy Complete Gonadal Dysgenesis |
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Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
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Testicular atrophy, Decreased fertility |
OMIM:313200 |
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 |
Xeroderma Pigmentosum, Complementation Group G |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... |
OMIM:308700 |
Fowler Urethral Sphincter Dysfunction Syndrome |
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Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia |
ORPHA:2795 |
Ovarian Fibrothecoma |
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Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... |
ORPHA:314478 |
Kallmann Syndrome With Spastic Paraplegia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
Aromatase Deficiency |
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Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea |
OMIM:613546 |
Tetragametic Chimerism |
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Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... |
ORPHA:199310 |
Fanconi Anemia, Complementation Group A |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Male infertility, Cryptorchidism, Prol... |
OMIM:227650 |
Hemochromatosis, Type 1 |
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Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... |
OMIM:235200 |
Fanconi Anemia, Complementation Group E |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Prolonged G2 phase of ... |
OMIM:600901 |
Satoyoshi Syndrome |
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Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... |
ORPHA:3130 |
Xeroderma Pigmentosum, Complementation Group F |
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Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid... |
OMIM:278760 |
Myotonic Dystrophy 1 |
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Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Testicular atrophy |
OMIM:601163 |
Fanconi Anemia, Complementation Group C |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Prolonged G2 phase of ... |
OMIM:227645 |
Ovarian Fibroma |
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Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
Müllerian Aplasia And Hyperandrogenism |
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Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... |
ORPHA:247768 |
Fanconi Anemia, Complementation Group D2 |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Annular pancreas, Cryptorchidism, Prol... |
OMIM:227646 |
Bone Marrow Failure Syndrome 5 |
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Testicular atrophy, Hypogonadism |
OMIM:618165 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... |
ORPHA:465508 |
Xfe Progeroid Syndrome |
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Defective DNA repair after ultraviolet radiation damage, Premature ovarian insufficiency |
OMIM:610965 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Testicular atrophy |
OMIM:613987 |
Burkitt Lymphoma |
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Abnormality of the ovary |
ORPHA:543 |
Aarskog-Scott Syndrome |
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Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... |
OMIM:305400 |
De Sanctis-Cacchione Syndrome |
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Defective DNA repair after ultraviolet radiation damage, Gonadal hypoplasia, Bilateral cryptorchi... |
OMIM:278800 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... |
ORPHA:3109 |
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 |
Wolfram Syndrome 1 |
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Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus |
OMIM:222300 |
Trichothiodystrophy |
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Defective DNA repair after ultraviolet radiation damage, Cryptorchidism, Gonadal dysgenesis |
ORPHA:33364 |
Xeroderma Pigmentosum, Complementation Group E |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
Hypoplasminogenemia |
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Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
Xeroderma Pigmentosum, Complementation Group C |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
Xeroderma Pigmentosum, Complementation Group A |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
Lesch-Nyhan Syndrome |
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Testicular atrophy |
OMIM:300322 |
Xeroderma Pigmentosum, Complementation Group D |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
Bardet-Biedl Syndrome 1 |
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Abnormality of the ovary, Decreased testicular size, Hypogonadism, Nephrogenic diabetes insipidus... |
OMIM:209900 |
Steinert Myotonic Dystrophy |
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Male hypogonadism, Cholelithiasis, Decreased response to growth hormone stimulation test, Decreas... |
ORPHA:273 |
X-Linked Intellectual Disability, Snyder Type |
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Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism |
ORPHA:3063 |