Spermatogenic Failure, X-Linked, 2 |
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Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Hypogonadism, Male |
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Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Spinocerebellar Ataxia Type 32 |
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Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Kennedy Disease |
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Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... |
ORPHA:481 |
Spinocerebellar Ataxia 32 |
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Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... |
OMIM:242870 |
Isolated Follicle Stimulating Hormone Deficiency |
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Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Partial Chromosome Y Deletion |
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Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
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Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration |
OMIM:313200 |
Spermatogenic Failure 25 |
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Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... |
OMIM:614840 |
Kallmann Syndrome With Spastic Paraplegia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... |
OMIM:308750 |
Combined Immunodeficiency, X-Linked |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
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Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Interstitial Nephritis, Karyomegalic |
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Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Immunoglobulin A Deficiency 2 |
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Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... |
OMIM:609529 |
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 |
Immunodeficiency 48 |
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Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Recurrent candid... |
OMIM:269840 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone concentration, P... |
OMIM:617872 |
Agammaglobulinemia 3, Autosomal Recessive |
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Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Hemochromatosis, Type 1 |
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Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, A... |
OMIM:235200 |
Agammaglobulinemia 2, Autosomal Recessive |
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Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Bone Marrow Failure Syndrome 5 |
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Hypogonadism, Testicular atrophy, Decreased circulating antibody level |
OMIM:618165 |
Immunodeficiency 15A |
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Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... |
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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Testicular atrophy, Bone marrow hypocellularity |
OMIM:613987 |
Testicular Regression Syndrome |
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Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Wolfram Syndrome 1 |
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Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Hypothyroidism, Hydroneph... |
OMIM:222300 |
Wiskott-Aldrich Syndrome 2 |
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Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf... |
OMIM:614493 |
Lesch-Nyhan Syndrome |
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Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Testicular atrophy |
OMIM:300322 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Neonatal sepsis, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decr... |
ORPHA:169154 |
Myotonic Dystrophy 1 |
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Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Increased circulating ferri... |
ORPHA:465508 |
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 |
46,Xy Sex Reversal 4 |
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Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev... |
OMIM:154230 |
Aarskog-Scott Syndrome |
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Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
Cd8 Deficiency, Familial |
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Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... |
OMIM:608957 |
Hereditary Renal Hypouricemia |
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Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chron... |
OMIM:613845 |
Igg4-Related Retroperitoneal Fibrosis |
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Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
Orthostatic Hypotension 1 |
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Reduced circulating prolactin concentration, Increased blood urea nitrogen, Retrograde ejaculatio... |
OMIM:223360 |
Drug-Induced Lupus Erythematosus |
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Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:231111 |
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 |
Immunodeficiency 17 |
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Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... |
OMIM:615607 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Incr... |
ORPHA:251004 |
Uremic Pruritus |
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Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... |
OMIM:274150 |
Dopamine Beta-Hydroxylase Deficiency |
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Elevated urinary dopamine level, Hyperinsulinemia, Elevated circulating creatinine concentration,... |
ORPHA:230 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
X-Linked Intellectual Disability, Snyder Type |
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Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Cockayne Syndrome Type 1 |
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Renal insufficiency, Proteinuria, Cryptorchidism, Increased blood urea nitrogen, Male hypogonadism |
ORPHA:90321 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... |
OMIM:223900 |
Steinert Myotonic Dystrophy |
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Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Wiskott-Aldrich Syndrome |
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Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Absent microvilli on... |
OMIM:301000 |
Testicular Agenesis |
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Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Paroxysmal Nocturnal Hemoglobinuria |
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Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... |
ORPHA:447 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Hypoparathyroidism, Abnormality of T cell physiology, Diabetes mellitus, Renal insufficiency, Sep... |
ORPHA:2237 |
Goodpasture Syndrome |
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Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Increas... |
OMIM:233450 |