Testicular Microlithiasis |
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Testicular microlithiasis |
OMIM:610441 |
Testes, Rudimentary |
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Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Spermatogenic Failure 57 |
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Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
Cephalin Lipidosis |
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Abnormality of the spleen |
OMIM:212800 |
Spermatogenic Failure 50 |
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Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Spermatogenic Failure 32 |
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Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
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Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Partial Chromosome Y Deletion |
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Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 25 |
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Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Isochromosomy Yp |
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Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Spermatogenic Failure 30 |
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Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure, X-Linked, 2 |
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Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Hypogonadism, Male |
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Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Isochromosomy Yq |
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Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
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Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Spermatogenic Failure 63 |
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Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Testicular Regression Syndrome |
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Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
46,Xx Testicular Difference Of Sex Development |
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Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Spinocerebellar Ataxia Type 32 |
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Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Precocious Puberty, Male-Limited |
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Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Spinocerebellar Ataxia 32 |
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Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
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Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Isolated Follicle Stimulating Hormone Deficiency |
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Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
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Macroorchidism |
ORPHA:85320 |
Isolated Splenogonadal Fusion |
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Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Intellectual Developmental Disorder, X-Linked 14 |
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Macroorchidism |
OMIM:300062 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
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Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Kennedy Disease |
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Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
46,Xy Complete Gonadal Dysgenesis |
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Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
Spermatogenic Failure 28 |
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Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Hemochromatosis, Type 1 |
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Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impote... |
OMIM:235200 |
46,Xy Sex Reversal 10 |
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Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
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Testicular atrophy, Decreased fertility |
OMIM:313200 |
46,Xx Sex Reversal 4 |
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Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Premature Ovarian Failure 10 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Kallmann Syndrome With Spastic Paraplegia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
46,Xy Sex Reversal 8 |
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Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
46,Xx Ovotesticular Difference Of Sex Development |
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Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Mirage Syndrome |
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Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Thrombocytopenia... |
OMIM:617053 |
Bone Marrow Failure Syndrome 5 |
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Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia |
OMIM:618165 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Testicular Agenesis |
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Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Gracile Bone Dysplasia |
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Asplenia, Micropenis, Hypoplastic spleen |
OMIM:602361 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular at... |
ORPHA:465508 |
Myotonic Dystrophy 1 |
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Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Testicular atrophy |
OMIM:601163 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Hypoplastic spleen |
ORPHA:89844 |
Wolfram Syndrome 1 |
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Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... |
OMIM:222300 |
Stormorken Syndrome |
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Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Microphthalmia, Syndromic 9 |
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Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... |
OMIM:601186 |
Aarskog-Scott Syndrome |
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Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Pearson Syndrome |
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Hypoparathyroidism, Hepatic steatosis, Reticulocytosis, Diabetes mellitus, Pancreatic fibrosis, D... |
ORPHA:699 |
Lesch-Nyhan Syndrome |
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Testicular atrophy, Megaloblastic anemia |
OMIM:300322 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
X-Linked Intellectual Disability, Snyder Type |
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Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Steinert Myotonic Dystrophy |
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Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |