Hypogonadism, Male |
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Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
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, X-Linked, 2 |
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Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Primary Basilar Invagination |
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Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck |
ORPHA:2285 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
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Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis |
OMIM:616566 |
Testicular Regression Syndrome |
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Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
Osteomesopyknosis |
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Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:2777 |
Isolated Follicle Stimulating Hormone Deficiency |
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Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
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 |
Kennedy Disease |
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Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
46,Xy Complete Gonadal Dysgenesis |
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Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
46,Xy Sex Reversal 10 |
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Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... |
OMIM:616425 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... |
OMIM:308700 |
Kallmann Syndrome With Spastic Paraplegia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
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 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
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Testicular atrophy, Decreased fertility |
OMIM:313200 |
Hemochromatosis, Type 1 |
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Azoospermia, Splenomegaly, Arthropathy, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atr... |
OMIM:235200 |
Bone Marrow Failure Syndrome 5 |
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Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia |
OMIM:618165 |
Aarskog-Scott Syndrome |
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Elevated circulating luteinizing hormone level, Cervical spine hypermobility, Hypoplasia of the o... |
OMIM:305400 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Testicular atrophy, Pancytopenia, Thrombocytopenia |
OMIM:613987 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Decreased serum testosterone concentration, Decreased libido, Joint swelling, Splenomegaly, Arthr... |
ORPHA:465508 |
Sacral Agenesis With Vertebral Anomalies |
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Abnormal vertebral morphology, Absence of the sacrum, Persistent cloaca, Vertebral clefting |
OMIM:615709 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Testicular atrophy |
OMIM:601163 |
Myotonic Dystrophy 1 |
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Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Hyperaldosteronism, Familial, Type I |
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Hyperaldosteronism, Decreased circulating renin level |
OMIM:103900 |
Wolfram Syndrome 1 |
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Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Testicular atrophy,... |
OMIM:222300 |
Apparent Mineralocorticoid Excess |
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Hypokalemia, Small for gestational age, Failure to thrive, Decreased circulating renin level |
OMIM:218030 |
Apparent Mineralocorticoid Excess |
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Hypokalemia, Abnormality of circulating cortisol level, Failure to thrive, Decreased circulating ... |
ORPHA:320 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
Lesch-Nyhan Syndrome |
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Testicular atrophy, Podagra, Megaloblastic anemia, Hip dislocation |
OMIM:300322 |
Hyperaldosteronism, Familial, Type Iii |
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Hyperaldosteronism, Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
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Hypokalemia, Decreased circulating renin level, Increased circulating cortisol level, Glucocortoc... |
ORPHA:231625 |
Ectopic Aldosterone-Producing Tumor |
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Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... |
ORPHA:231632 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
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Decreased circulating renin level |
OMIM:605115 |
Liddle Syndrome 2 |
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Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
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Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Pseudohypoaldosteronism, Type Iic |
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Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Liddle Syndrome 1 |
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Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Primary Unilateral Adrenal Hyperplasia |
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Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... |
ORPHA:231580 |
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 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Hypokalemia, Primary hyperaldosteronism, Decreased circulating renin level |
OMIM:615474 |
X-Linked Intellectual Disability, Snyder Type |
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Abnormality of the Leydig cells, Cryptorchidism, Kyphoscoliosis, Testicular atrophy, Hypospadias,... |
ORPHA:3063 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Failure to thrive, Decreased circulating renin level, Hypokalemia, Decreased circulating cortisol... |
ORPHA:90793 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Hypokalemia, Decreased circulating cortisol level, Decreased circulating renin level |
ORPHA:90795 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level |
OMIM:202010 |
Steinert Myotonic Dystrophy |
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Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth hormone stimulation te... |
ORPHA:273 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Decreased circulating renin level, Hyponatremia, Decreased circulating cortisol level, Elevated s... |
OMIM:201750 |