Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Small Cell Cancer Of The Lung |
|
Neoplasm of the lung |
OMIM:182280 |
Prostate Cancer, Hereditary, 1 |
|
Prostate cancer |
OMIM:601518 |
Prostate Cancer |
|
Prostate cancer |
OMIM:176807 |
Prostate Cancer, Hereditary, X-Linked 1 |
|
Prostate cancer |
OMIM:300147 |
Prostatic Hyperplasia, Benign |
|
Benign prostatic hyperplasia |
OMIM:600082 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Prostate Cancer/Brain Cancer Susceptibility |
|
Neoplasm of the central nervous system, Prostate cancer |
OMIM:603688 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Glioma susceptibility 9 |
|
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia |
OMIM:616568 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... |
OMIM:307200 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Melioidosis |
|
Foot osteomyelitis, Pneumonia, Osteoarthritis, Hepatitis, Acute infectious pneumonia, Abnormal pa... |
ORPHA:31202 |
Bazex Syndrome |
|
Neoplasm, Lung adenocarcinoma, Liposarcoma |
ORPHA:166113 |
Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Cor pulmonale, Myocardial fibrosis, Abnormal pulmonary interstit... |
ORPHA:2302 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias |
OMIM:247640 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter |
OMIM:616534 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... |
ORPHA:145 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis |
OMIM:618913 |
Ovarian Cancer |
|
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma |
OMIM:167000 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... |
ORPHA:276399 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the parathyroid gland, Abnormal f... |
ORPHA:2552 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, Conjunctiviti... |
OMIM:300755 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas morphology, Xerostomia, Enl... |
ORPHA:449432 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Cryptococcosis |
|
Lymphoid leukemia, Osteomyelitis, Pneumonia, Peritonitis, Neoplasm, Prostatitis |
ORPHA:1546 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Orchitis, Keratitis, Abnormality of the anterior pituitary, Enlarged lacr... |
ORPHA:449563 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Hodgkin lymphom... |
ORPHA:157798 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Alkaptonuria |
|
Arthritis, Osteoarthritis, Prostatitis |
ORPHA:56 |
Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Inflammatory abnormality of ... |
ORPHA:900 |
Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma |
ORPHA:1501 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, ... |
ORPHA:449395 |
Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Sex reversal, Squamous cell carcinoma of the skin |
ORPHA:85112 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
Pilomatrixoma |
|
Pilomatrixoma, Neoplasm of head and neck |
ORPHA:91414 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenoc... |
OMIM:620189 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Gastrointestinal stroma tumor, Myocarditis, Lymph... |
ORPHA:221 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Jaundice, Pulmonic valve myxoma, Cholestasis, Bacterial endocarditis |
ORPHA:615 |
Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Myelodysplasia, Portal hypertension, Cryptorchidism, Squamous cell carcinoma of the skin, Pulmona... |
OMIM:620365 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... |
OMIM:158320 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom... |
OMIM:235200 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Recurrent lower respir... |
OMIM:253250 |
Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly |
OMIM:614096 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
Lynch Syndrome 4 |
|
Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
Huriez Syndrome |
|
Squamous cell carcinoma of the skin |
OMIM:181600 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cardiomegaly |
ORPHA:858 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... |
OMIM:212140 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... |
OMIM:300280 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma |
ORPHA:43393 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Xeroderma Pigmentosum, Complementation Group B |
|
Basal cell carcinoma, Neoplasm, Hypogonadism, Squamous cell carcinoma of the skin, Cutaneous mela... |
OMIM:610651 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... |
OMIM:600649 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Adrenocortical carc... |
OMIM:130650 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Pleural effusion, Pulmonary hyp... |
OMIM:616897 |
Xeroderma Pigmentosum, Complementation Group E |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
OMIM:278740 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Dyskeratosis Congenita, Digenic |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Decreased testicular size |
OMIM:620040 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Cardiomegaly, Pericardial effusion, Muscu... |
OMIM:115197 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri... |
OMIM:252920 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... |
ORPHA:465508 |
Xeroderma Pigmentosum, Complementation Group C |
|
Actinic keratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
OMIM:278720 |
Familial Adenomatous Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Tetralogy of Fallot, Patent foram... |
OMIM:601005 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
Oculocutaneous Albinism Type 1B |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79434 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Hepat... |
ORPHA:99931 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Emphysema, Pulmonary carcinoid tumor, Papill... |
ORPHA:363618 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Recurrent pneumonia, Cardiomegaly |
ORPHA:3137 |
Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Pulmonary ... |
ORPHA:3427 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Hypospadias, Bicuspid aortic valve, Ventricular septal defect, ... |
ORPHA:353281 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... |
ORPHA:99889 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Decreased liver function, Hepatic stea... |
ORPHA:42 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Astrocytoma, Hypospadias, Ventricular septal defect, Phimosis, Small cel... |
ORPHA:821 |
Mogs-Cdg |
|
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, At... |
ORPHA:79330 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Dextrocardia, Pilomatrixoma, Cryptorchidism, Jaundice, Biliary ... |
ORPHA:3310 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop... |
OMIM:201475 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Oculocutaneous Albinism Type 1A |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79431 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal defect, A... |
OMIM:306955 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Pneumothorax, Pulmonary hypoplasia, Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Pulmonary edema, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left v... |
ORPHA:57777 |
Xeroderma Pigmentosum, Complementation Group A |
|
Melanoma, Squamous cell carcinoma of the skin |
OMIM:278700 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:602782 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hyper... |
OMIM:617713 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:614921 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Cardiomegaly, Cryptorchidism, Adrenocortical carc... |
ORPHA:116 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Pulmonary hy... |
OMIM:617022 |
Truncus Arteriosus |
|
Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Anomalous origin of ... |
ORPHA:3384 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Hypospadias, Bicuspid aortic valve, Ventricular septal defect, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Hypospadias, Bicuspid aortic valve, Ventricular septal defect, ... |
ORPHA:353277 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:220295 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Myelodysplasia, Hepatic necrosis, Interstitial pneumonitis, Squamous cell carcinoma of the skin, ... |
OMIM:127550 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Nephroblastoma, Cardiomegaly, Medulloblastoma, Abnormal cardiac... |
ORPHA:97297 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a... |
ORPHA:1329 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:608836 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:603903 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cryptorchidism, Cardiomegaly |
OMIM:618143 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Pulmonary edema, Cardiomegaly |
OMIM:105210 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Respiratory tract infection, Elevated circulating alanine aminotransf... |
ORPHA:308552 |
Oculocutaneous Albinism Type 2 |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
ORPHA:79432 |
Hermansky-Pudlak Syndrome |
|
Cardiomyopathy, Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmonary fibrosis |
ORPHA:79430 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Partial anomalous pulmonary venous return, Pn... |
ORPHA:95430 |
Aicardi-Goutières Syndrome |
|
Enchondroma, Elevated hepatic transaminase, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic l... |
ORPHA:51 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Pulmonary hypoplasia, Hepatic failure |
OMIM:608013 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Cardiomegaly, Recurrent pneumonia, Bronchiectasis, Abnormal hea... |
ORPHA:980 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly |
OMIM:619259 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Sandhoff Disease |
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Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology... |
ORPHA:228308 |
Liver Disease, Severe Congenital |
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Cardiomegaly, Biliary hyperplasia, Elevated hepatic iron concentration, Atrial septal defect, Pan... |
OMIM:619991 |
Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Ogden Syndrome |
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Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular... |
OMIM:300855 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Polycystic ovaries, Pulmonary edema |
ORPHA:137675 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
Pseudo-Torch Syndrome 3 |
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Cardiomegaly |
OMIM:618886 |
Mucolipidosis Ii Alpha/Beta |
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Hepatomegaly, Recurrent bronchitis, Cardiomegaly, Splenomegaly, Recurrent pneumonia, Cavernous he... |
OMIM:252500 |
Cantú Syndrome |
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Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Atelectasi... |
OMIM:618278 |
Glycogen Storage Disease Ii |
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Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Pleural effusion |
OMIM:232300 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Fucosidosis |
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Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly |
OMIM:230000 |
Mucopolysaccharidosis Type 3 |
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Hepatomegaly, Recurrent sinopulmonary infections, Cardiomegaly, Respiratory tract infection, Sple... |
ORPHA:581 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... |
ORPHA:1677 |
Lethal Acantholytic Erosive Disorder |
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Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Squamous cell carcinoma of the skin |
ORPHA:79396 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Cardiomegaly |
ORPHA:2463 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Cardiomegaly, Respiratory tract infection, Atelectasis, Elevated circulating alanin... |
ORPHA:365 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect... |
ORPHA:99125 |
Abetalipoproteinemia |
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Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hepatic fibrosis, Cirrhosis, Hepatic s... |
ORPHA:14 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Epididymitis, Recurrent ... |
OMIM:256040 |
Yunis-Varon Syndrome |
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Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... |
ORPHA:3472 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Pneumothorax, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Williams Syndrome |
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Abnormal endocardium morphology, Recurrent respiratory infections, Hypoplasia of penis, Overridin... |
ORPHA:904 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Cardiomegaly |
ORPHA:79280 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial calcification, Hepatic ca... |
ORPHA:51608 |
Singleton-Merten Syndrome 1 |
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Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic valve calcific... |
OMIM:182250 |