Hemochromatosis, Type 1 |
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Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... |
OMIM:235200 |
Hypogonadism, Male |
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Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Spermatogenic Failure, X-Linked, 2 |
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Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... |
OMIM:615415 |
Isolated Follicle Stimulating Hormone Deficiency |
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Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Microphthalmia, Syndromic 9 |
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Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary artery atresia, Pelvic kidney, Sin... |
OMIM:601186 |
Matthew-Wood Syndrome |
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Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, H... |
ORPHA:2470 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular at... |
ORPHA:465508 |
Kallmann Syndrome With Spastic Paraplegia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Mirage Syndrome |
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Decreased body weight, Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorch... |
OMIM:617053 |
Spinocerebellar Ataxia Type 32 |
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Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Spinocerebellar Ataxia 32 |
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Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Kennedy Disease |
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Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Testicular atrophy, Pulmonary hypoplasia |
OMIM:601163 |
Wolfram Syndrome 1 |
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Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg... |
OMIM:222300 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Atrial septal defect, Hypoplastic spleen, Patent foramen ovale |
ORPHA:89844 |
Bone Marrow Failure Syndrome 5 |
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Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Pulmonary fibrosis, Testicular atrophy... |
OMIM:618165 |
Gracile Bone Dysplasia |
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Asplenia, Micropenis, Failure to thrive, Hypoplastic spleen |
OMIM:602361 |
Cardiac-Urogenital Syndrome |
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Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe... |
OMIM:618280 |
Meacham Syndrome |
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Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Septate vagina,... |
OMIM:608978 |
Pearson Syndrome |
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Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
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Testicular atrophy, Decreased fertility |
OMIM:313200 |
Myotonic Dystrophy 1 |
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Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Stormorken Syndrome |
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Howell-Jolly bodies, Asplenia, Anemia, Hematuria, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Aarskog-Scott Syndrome |
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Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Lesch-Nyhan Syndrome |
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Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testicular atrophy |
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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Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Steinert Myotonic Dystrophy |
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Elevated hepatic transaminase, Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogo... |
ORPHA:273 |