Testicular Anomalies With Or Without Congenital Heart Disease |
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Testicular dysgenesis, Micropenis, Ambiguous genitalia, Tetralogy of Fallot, Perineal hypospadias... |
OMIM:615542 |
Ethanolaminosis |
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Cardiomegaly |
OMIM:227150 |
Hypogonadism, Male |
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Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
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Macroorchidism, Cardiomegaly |
OMIM:300886 |
Isolated Follicle Stimulating Hormone Deficiency |
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Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Spermatogenic Failure, X-Linked, 2 |
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Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Bone Marrow Failure Syndrome 5 |
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Testicular atrophy, Pure red cell aplasia, Anemia, Hypogonadism |
OMIM:618165 |
Sternum, Premature Obliteration Of Sutures Of |
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Short sternum, Abnormal heart morphology, Cryptorchidism |
OMIM:184800 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Testicular atrophy, Toe syndactyly, Clinodactyly of the 5th finger, Syndactyly |
OMIM:601163 |
Spinocerebellar Ataxia 32 |
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Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Spinocerebellar Ataxia Type 32 |
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Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Hemochromatosis, Type 1 |
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Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Cardiom... |
OMIM:235200 |
Isolated Splenogonadal Fusion |
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Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... |
ORPHA:457083 |
Kennedy Disease |
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Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility |
ORPHA:481 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
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Cardiomegaly, Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
Neurooculocardiogenitourinary Syndrome |
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Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Testicular atrophy, Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia |
OMIM:613987 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
Timothy Syndrome |
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Ventricular septal defect, Cardiomegaly, Syndactyly, Tetralogy of Fallot, Hypothyroidism, Cutaneo... |
OMIM:601005 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Hallux valgus, Pancreatic hypoplasia, Lymphadenopathy, Splenomegaly, Micropenis, Hepatosplenomega... |
OMIM:602782 |
Lethal Congenital Contracture Syndrome 10 |
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Ventricular septal defect, Adducted thumb, Talipes equinovarus, Hypoplasia of the thymus, Cardiom... |
OMIM:617022 |
Infantile Sialic Acid Storage Disease |
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Hepatomegaly, Vacuolated lymphocytes, Metaphyseal irregularity, Cardiomegaly, Splenomegaly |
OMIM:269920 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Macroorchidism, Mitral valve prolapse, Cardiomegaly, Abnormal thumb morphology, Abnormal atrioven... |
ORPHA:324410 |
Aarskog-Scott Syndrome |
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Testicular atrophy, Broad palm, Single transverse palmar crease, Elevated circulating follicle st... |
OMIM:305400 |
Cantu Syndrome |
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Bicuspid aortic valve, Pericardial effusion, Metaphyseal widening, Broad first metatarsal, Cardio... |
OMIM:239850 |
Wolfram Syndrome 1 |
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Testicular atrophy, Diabetes insipidus, Megaloblastic anemia, Cardiomyopathy, Limited mobility of... |
OMIM:222300 |
Combined Oxidative Phosphorylation Deficiency 33 |
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Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism |
OMIM:617713 |
Congenital Toxoplasmosis |
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Hepatomegaly, Lymphadenopathy, Anemia, Cardiomegaly, Thrombocytopenia |
ORPHA:858 |
Isolated Anencephaly |
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Adrenal hypoplasia, Maternal diabetes, Thymus hyperplasia |
ORPHA:563609 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Testicular atrophy, Hepatomegaly, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Cardiom... |
ORPHA:465508 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
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Testicular atrophy, Decreased fertility |
OMIM:313200 |
Attrv30M Amyloidosis |
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Cardiomegaly, Cardiomyopathy, Impotence |
ORPHA:85447 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
Kallmann Syndrome With Spastic Paraplegia |
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Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
Neuraminidase Deficiency |
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Hepatomegaly, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomegaly,... |
OMIM:256550 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
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Cardiomegaly |
OMIM:618654 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Hepatomegaly, Ventricular septal defect, Maternal diabetes, Biventricular hypertrophy, Abnormal m... |
ORPHA:860 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Hypospadias, Hypertrophic cardiomyopathy, Ventricular septal defect, Adducted thumb, Decreased fi... |
OMIM:616897 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Cardiomegaly, Anemia, Decreased circulating cortisol level |
OMIM:618838 |
Sickle Cell Anemia |
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Leukocytosis, Hepatomegaly, Priapism, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red c... |
OMIM:603903 |
Mulibrey Nanism |
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Hepatomegaly, Pericardial constriction, Thickened cortex of long bones, Cardiomegaly, Myocardial ... |
OMIM:253250 |
Cardiomyopathy, Familial Hypertrophic 27 |
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Cardiomegaly |
OMIM:618052 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Metaphyseal cupping, Cardiomegaly, Iliac crest serration, Hypoplastic ischia, Short long bone, Mi... |
OMIM:613320 |
Familial Atrial Myxoma |
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Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma |
ORPHA:615 |
Attrv122I Amyloidosis |
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Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Anemia, Cardiomegal... |
ORPHA:85451 |
Mogs-Cdg |
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Hepatomegaly, Inappropriate antidiuretic hormone secretion, External genital hypoplasia, Cardiome... |
ORPHA:79330 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... |
OMIM:115197 |
Mucopolysaccharidosis, Type Iiib |
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Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly |
OMIM:252920 |
Lethal Acantholytic Erosive Disorder |
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3-4 finger syndactyly, Cardiomegaly, Cardiomyopathy, 4-5 finger syndactyly, Clinodactyly of the 5... |
ORPHA:158687 |
Carnitine Deficiency, Systemic Primary |
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Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly |
OMIM:212140 |
Hypertrichotic Osteochondrodysplasia, Cantu Type |
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Hypertrophic cardiomyopathy, Broad hallux phalanx, Cardiomegaly, Abnormality of the metaphysis, F... |
ORPHA:1517 |
Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Cardiomegaly, Clinodactyly of the 5th finger, Short distal phalanx of finger, Short... |
OMIM:618143 |
Myotonic Dystrophy 1 |
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Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
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Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Greenberg Dysplasia |
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Epiphyseal stippling, Hepatosplenomegaly, Abnormal ossification involving the femoral head and ne... |
OMIM:215140 |
Danon Disease |
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Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Myocardia... |
OMIM:300257 |
Congenital Tricuspid Valve Dysplasia |
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Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
Fixed Subaortic Stenosis |
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Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... |
ORPHA:3092 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
Isolated Right Ventricular Hypoplasia |
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Cardiomegaly, Clubbing, Right atrial enlargement, Atrial septal defect, Muscular ventricular sept... |
ORPHA:439 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Hallux valgus, Bicuspid aortic valve, Talipes equinovarus, Spatulate thumbs, Broad distal phalang... |
OMIM:245600 |
Pseudo-Torch Syndrome 3 |
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Leukocytosis, Lymphadenitis, Anemia, Cardiomegaly, Congenital thrombocytopenia |
OMIM:618886 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:600649 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
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Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Heterotaxy, Visceral, 1, X-Linked |
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Dextrocardia, Ventricular septal defect, Asplenia, Mitral atresia, Double outlet right ventricle,... |
OMIM:306955 |
Mucolipidosis Ii Alpha/Beta |
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Hypertrophic cardiomyopathy, Hepatomegaly, Hypoplastic scapulae, Talipes equinovarus, Metaphyseal... |
OMIM:252500 |
Refsum Disease, Classic |
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Short fourth metatarsal, Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
Yunis-Varon Syndrome |
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Hypospadias, Short middle phalanx of finger, Micropenis, Syndactyly, Short toe, Abnormal pelvis b... |
ORPHA:3472 |
Proteus-Like Syndrome |
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Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly |
ORPHA:2969 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
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Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
Coronary Arterial Fistula |
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Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... |
ORPHA:2041 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Thymus hyperplasia, Arachnodactyly, Talipes equinovarus |
OMIM:619036 |
Alpha-N-Acetylgalactosaminidase Deficiency |
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Cardiomegaly |
ORPHA:3137 |
Idiopathic Pulmonary Hemosiderosis |
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Iron deficiency anemia, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Dilated cardiomyopathy, Hepatomegaly, Tapered finger, Long fingers, Cardiomegaly, Tapered toe, Lo... |
OMIM:608836 |
Craniofaciofrontodigital Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Palmoplantar cutis laxa, Pericardial effusion, ... |
ORPHA:363705 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Cardiomegaly, Cardiomyopathy, Impotence |
OMIM:105210 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Cardiomegaly, Arachnodactyly, Increased arm span, Thin metatarsal cortices, Slender long bone, Th... |
ORPHA:2463 |
Truncus Arteriosus |
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Adrenocortical abnormality, Ventricular septal defect, Truncus arteriosus, Right ventricular hype... |
ORPHA:3384 |
Aorta Coarctation |
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Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... |
ORPHA:1457 |
Craniofaciofrontodigital Syndrome |
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Palmoplantar cutis laxa, Abnormal heart morphology, Cubitus valgus, Cardiomegaly, Hypoplastic pelvis |
OMIM:114620 |
Carnitine Palmitoyltransferase I Deficiency |
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Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Fucosidosis |
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Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Coxa valga |
OMIM:230000 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatomegaly, Cardiomegaly, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytos... |
OMIM:618278 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Labial hypertrophy, Cryptorchidism, Neonat... |
ORPHA:96191 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Left ventricular noncompaction cardiomyopathy, Hallux valgus, Pineal cyst, Ventricular septal def... |
OMIM:300967 |
Beck-Fahrner Syndrome |
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Ventricular septal defect, Hip dysplasia, Cardiomegaly |
OMIM:618798 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hallux valgus, Hepatomegaly, Flexion contracture of toe, Hypoplastic scapulae, Lymphadenopathy, L... |
OMIM:256040 |
Beckwith-Wiedemann Syndrome |
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Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, Gonadoblastoma, Cardiomegaly, ... |
OMIM:130650 |
Hsd10 Disease, Infantile Type |
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Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Right ventricular hypertrophy, Cardiomegaly, Proximal muscle weakness in upper limbs, Scapular wi... |
ORPHA:268 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... |
OMIM:157640 |
Sandhoff Disease |
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Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Impotence |
OMIM:268800 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:201475 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
Proteus Syndrome |
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Ovarian neoplasm, Macroorchidism, Hallux valgus, Thymus hyperplasia, Diabetes insipidus, Long pen... |
ORPHA:744 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
OMIM:608013 |
Singleton-Merten Syndrome 1 |
|
Expanded metacarpals with widened medullary cavities, Talipes equinovarus, Hypoplastic distal rad... |
OMIM:182250 |
Complete Atrioventricular Septal Defect |
|
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... |
ORPHA:1329 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy |
OMIM:261740 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Hypothyroidism |
ORPHA:349 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Testicular atrophy, Abnormality of the Leydig cells, Arachnodactyly, Long toe, Campt... |
ORPHA:3063 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Naxos Disease |
|
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Palmoplantar keratod... |
OMIM:601214 |
Bohring-Opitz Syndrome |
|
Annular pancreas, Cardiomegaly, Cholelithiasis, Metacarpophalangeal joint contracture, Fixed elbo... |
ORPHA:97297 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Decreased serum insulin-like gro... |
OMIM:614921 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Megaloblastic anemia |
OMIM:300322 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Avascular necro... |
ORPHA:581 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
Abetalipoproteinemia |
|
Hepatomegaly, Talipes equinovarus, Acanthocytosis, Anemia, Cardiomegaly, Hypothyroidism, Reticulo... |
ORPHA:14 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy |
ORPHA:308552 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Dilated cardiomyopathy, Talipes equinovarus,... |
ORPHA:273 |
Beckwith-Wiedemann Syndrome |
|
Hypertrophic cardiomyopathy, Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, G... |
ORPHA:116 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy |
ORPHA:228308 |
Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Abnormal heart morphology, Cardiomegaly, Atrial septal defect, Tetralogy of F... |
ORPHA:980 |
Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Chronic lymphatic leukemia, Cardiomegaly, Micropenis, Hepatosplenome... |
ORPHA:51 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Polycystic ovaries, Cardiomegaly |
ORPHA:137675 |
Williams Syndrome |
|
Hallux valgus, Bicuspid aortic valve, Overriding aorta, Abnormality of pelvic girdle bone morphol... |
ORPHA:904 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Arachnodactyly |
ORPHA:91387 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Right atrial... |
ORPHA:1677 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Atrial sept... |
ORPHA:95430 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Coronary a... |
ORPHA:75565 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... |
ORPHA:99125 |
Generalized Arterial Calcification Of Infancy |
|
Recurrent spontaneous abortion, Abnormal calcification of the carpal bones, Stippled calcificatio... |
ORPHA:51608 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy |
ORPHA:365 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |