Hypogonadism, Male |
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Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias |
OMIM:241100 |
Spermatogenic Failure, X-Linked, 2 |
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Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
Kennedy Disease |
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Abnormal circulating lipid concentration, Erectile dysfunction, Type II diabetes mellitus, Decrea... |
ORPHA:481 |
Isolated Follicle Stimulating Hormone Deficiency |
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Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... |
ORPHA:52901 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ... |
OMIM:242870 |
Spinocerebellar Ataxia 32 |
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Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Spinocerebellar Ataxia Type 32 |
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Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
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Elevated circulating creatine kinase concentration, Decreased fertility, Testicular atrophy |
OMIM:313200 |
Immunodeficiency, Common Variable, 5 |
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Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count, Recurrent ... |
OMIM:613495 |
Kallmann Syndrome With Spastic Paraplegia |
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Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... |
OMIM:308750 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen... |
OMIM:308700 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
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Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia |
OMIM:620085 |
Combined Immunodeficiency, X-Linked |
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Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Recurrent bronc... |
OMIM:312863 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Elevated circulating thyroid-stimulating hormone concentration, Hypergonadotropic hypogonadism, I... |
OMIM:617872 |
Immunoglobulin A Deficiency 2 |
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Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Recurrent sino... |
OMIM:609529 |
Interstitial Nephritis, Karyomegalic |
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Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ... |
OMIM:614817 |
Immunodeficiency, Common Variable, 4 |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Agammaglobulinemia 7, Autosomal Recessive |
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Abnormal T cell morphology, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent... |
OMIM:615214 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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B lymphocytopenia, Recurrent respiratory infections, Decreased circulating IgG level, T lymphocyt... |
OMIM:233650 |
Hemochromatosis, Type 1 |
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Increased circulating ferritin concentration, Azoospermia, Impotence, Increased circulating iron ... |
OMIM:235200 |
Agammaglobulinemia 2, Autosomal Recessive |
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Abnormal T cell morphology, Recurrent otitis media, Recurrent respiratory infections, Recurrent p... |
OMIM:613500 |
Bone Marrow Failure Syndrome 5 |
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Decreased circulating antibody level, Testicular atrophy, Hypogonadism |
OMIM:618165 |
Immunodeficiency 48 |
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Recurrent candida infections, Impaired lymphocyte transformation with phytohemagglutinin, Panhypo... |
OMIM:269840 |
Immunodeficiency 112 |
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Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cells, Decrea... |
OMIM:620449 |
Immunodeficiency 15A |
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Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi... |
OMIM:618204 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Testicular atrophy |
OMIM:601163 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Bone marrow hypocellularity, Testicular atrophy |
OMIM:613987 |
46,Xy Sex Reversal 4 |
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Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure... |
OMIM:154230 |
Myotonic Dystrophy 1 |
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Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Wiskott-Aldrich Syndrome 2 |
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Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Recurrent infection... |
OMIM:614493 |
Wolfram Syndrome 1 |
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Hydroureter, Diabetes insipidus, Neurogenic bladder, Hypothyroidism, Hydronephrosis, Diabetes mel... |
OMIM:222300 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Recurrent candida infections, Neonatal sepsis, Decreased proportion of CD8-positive T cells, Incr... |
ORPHA:169154 |
Lesch-Nyhan Syndrome |
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Hyperuricemia, Nephrolithiasis, Nephrocalcinosis, Hyperuricosuria, Testicular atrophy |
OMIM:300322 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Increased circulating ferritin concentration, Abnormality of iron homeostasis, Erectile dysfuncti... |
ORPHA:465508 |
Aarskog-Scott Syndrome |
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Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... |
OMIM:305400 |
Immunodeficiency 97 With Autoinflammation |
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Hypertriglyceridemia, Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer... |
OMIM:619802 |
Immunodeficiency 116 |
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Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu... |
OMIM:608957 |
Hereditary Renal Hypouricemia |
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Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Uric acid urolithiasis inde... |
ORPHA:94088 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... |
OMIM:612926 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Renal salt wasting, Polyuria, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Hypomag... |
OMIM:613845 |
Igg4-Related Retroperitoneal Fibrosis |
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Acute kidney injury, Renal tubular epithelial necrosis, Retrograde ejaculation, Hematuria, Elevat... |
ORPHA:49041 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... |
OMIM:611926 |
Orthostatic Hypotension 1 |
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Retrograde ejaculation, Reduced circulating prolactin concentration, Increased blood urea nitroge... |
OMIM:223360 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... |
OMIM:157640 |
Drug-Induced Lupus Erythematosus |
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Increased blood urea nitrogen, Hematuria, Elevated circulating creatine kinase concentration, Ele... |
ORPHA:231111 |
Immunodeficiency 17 |
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Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti... |
OMIM:615607 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Delayed puberty, Enlarged kidney, Increased blood urea nitrogen, Hypercalcemia, Macroscopic hemat... |
ORPHA:251004 |
Uremic Pruritus |
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Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo... |
ORPHA:94059 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Increased blood urea nitr... |
OMIM:235400 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Hemolytic-uremic syndrome, Microscopic hematuria, Increased blood urea nitrogen, Abnormal renal p... |
OMIM:274150 |
X-Linked Intellectual Disability, Snyder Type |
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Ectopic kidney, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy |
ORPHA:3063 |
Dopamine Beta-Hydroxylase Deficiency |
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Hyperinsulinemia, Retrograde ejaculation, Elevated urinary dopamine level, Increased blood urea n... |
ORPHA:230 |
Cockayne Syndrome Type 1 |
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Cryptorchidism, Increased blood urea nitrogen, Proteinuria, Male hypogonadism, Renal insufficiency |
ORPHA:90321 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... |
OMIM:300539 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration, Abnormal renal phys... |
OMIM:223900 |
Steinert Myotonic Dystrophy |
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Decreased response to growth hormone stimulation test, Male hypogonadism, Hyperinsulinemia, Abnor... |
ORPHA:273 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Rec... |
OMIM:301000 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Hypocalcemic seizures, Hypoparathyroidism, Unilateral renal agenesis, Hypocalcemia, Polycystic ki... |
ORPHA:2237 |
Paroxysmal Nocturnal Hemoglobinuria |
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Acute kidney injury, Reduced haptoglobin level, Hemosiderinuria, Impotence, Unconjugated hyperbil... |
ORPHA:447 |
Alport Syndrome 3A, Autosomal Dominant |
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Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Nephrocalcinosis, Nephritis, Prot... |
OMIM:104200 |
Goodpasture Syndrome |
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Renal insufficiency, Increased blood urea nitrogen, Proteinuria, Macroscopic hematuria, Cylindrur... |
OMIM:233450 |