Familial Cylindromatosis |
|
Telangiectasia of the skin |
ORPHA:211 |
Porokeratosis 2, Palmar, Plantar, And Disseminated Type |
|
Plantar telangiectasia, Palmar telangiectasia |
OMIM:175850 |
Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia |
OMIM:618196 |
Moyamoya Disease 1 |
|
Telangiectasia, Inflammatory arteriopathy |
OMIM:252350 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
Uv-Sensitive Syndrome 3 |
|
Telangiectasia, Cutaneous photosensitivity |
OMIM:614640 |
Familial Multiple Trichoepithelioma |
|
Telangiectasia of the skin |
ORPHA:867 |
Rombo Syndrome |
|
Abnormal eyebrow morphology, Abnormal eyelash morphology, Facial telangiectasia |
OMIM:180730 |
Mastocytosis, Cutaneous |
|
Telangiectasia macularis eruptiva perstans, Urticaria, Erythema |
OMIM:154800 |
Moyamoya Disease |
|
Telangiectasia |
ORPHA:2573 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Spontaneous, recurrent epistaxis, Telangiectasia, Portal hypertension |
OMIM:615506 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Retinal telangiectasia |
OMIM:267900 |
Cerebral Cavernous Malformations 2 |
|
Telangiectasia, Cerebral hemorrhage |
OMIM:603284 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Telangiectasia, Alopecia |
OMIM:614564 |
Uv-Sensitive Syndrome 1 |
|
Telangiectasia, Cutaneous photosensitivity |
OMIM:600630 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair, Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular ar... |
OMIM:610476 |
Cutaneous Collagenous Vasculopathy |
|
Vascular skin abnormality, Petechiae, Diffuse telangiectasia, Prominent superficial blood vessels... |
ORPHA:280779 |
Leber Hereditary Optic Neuropathy, Autosomal Recessive |
|
Retinal telangiectasia |
OMIM:619382 |
Non-Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Subcutaneous calcification, Prominent superficial veins, Congestive h... |
ORPHA:141179 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
Lambert Syndrome |
|
Intrauterine growth retardation, Intrahepatic biliary atresia, Aplasia/Hypoplasia of the cerebell... |
ORPHA:1296 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Myocardial fibrosis, Joint hemorrhage, Hemoperitoneum, Persistent bleeding after trauma, Subcutan... |
ORPHA:465 |
Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Subcutaneous calcification, Prominent superficial veins, Congestive h... |
ORPHA:141184 |
Pulmonary Blastoma |
|
Dyspnea, Weight loss, Recurrent pneumonia, Cough |
ORPHA:64741 |
Congenital Factor X Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Cutis marmorata, Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmi... |
ORPHA:45452 |
Pleural Mesothelioma |
|
Respiratory distress, Cough, Abnormal cardiovascular system physiology, Pleural effusion, Dyspnea... |
ORPHA:50251 |
Nephrosialidosis |
|
Bone-marrow foam cells, Pericardial effusion, Ascites |
OMIM:256150 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Bronchiectasis, Telangiectases of the cheeks, Livedo |
OMIM:615139 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Telangiectasia of the skin, Retinal telangiectasia, Cutaneous photosensitivity |
ORPHA:438134 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Small for gestational age, Right ventricular failure, Abnormal... |
ORPHA:70589 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Flushing, Dermatographic urticaria, Telangiectasia macularis eruptiva... |
ORPHA:79455 |
Pulmonary Arteriovenous Malformation |
|
Telangiectasia, Hemothorax, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Cyanosis, Pleu... |
ORPHA:2038 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss |
ORPHA:141152 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Failure to thrive, Cyanosis, Low-output congestive heart failure, Hypertrop... |
ORPHA:91130 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Cough, Dyspnea, Hypertension, Telangie... |
OMIM:178600 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Facial telangiectasia, Ectodermal dyspl... |
ORPHA:50944 |
Ramon Syndrome |
|
Telangiectasia of the skin, Generalized hirsutism, Failure to thrive |
ORPHA:3019 |
Limited Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Pulmonary arterial hypertension, Mucosal telangiectasiae |
ORPHA:220402 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Decreased body weight, Dilated cardiomyopathy, Respiratory insufficiency du... |
OMIM:300580 |
Tempi Syndrome |
|
Intracranial hemorrhage, Facial erythema, Hypoxemia, Telangiectasia, Transudative pleural effusion |
ORPHA:284227 |
Cardiomyopathy, Dilated, 1Bb |
|
Left bundle branch block, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:612877 |
Anonychia With Flexural Pigmentation |
|
Macular telangiectasia, Abnormal hair morphology, Alopecia of scalp |
ORPHA:69125 |
Slc35A1-Cdg |
|
Respiratory distress, Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrhage, Pneumonia... |
ORPHA:238459 |
Bronchial Neuroendocrine Tumor |
|
Asthma, Tricuspid regurgitation, Nonproductive cough, Right ventricular failure, Palpitations, Ca... |
ORPHA:97287 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Myocardial infa... |
ORPHA:60033 |
Acrogeria |
|
Excessive wrinkled skin, Telangiectasia of the skin, Prematurely aged appearance, Fine hair |
ORPHA:2500 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Erythema, Angioedema, Upper airway obstruction, Abnormal capillary physiology |
ORPHA:100057 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hepatomegaly, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous h... |
ORPHA:99827 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Tachycardia, Acute infectious pneumonia, Tachypnea, Respiratory f... |
ORPHA:264675 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... |
ORPHA:60032 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Transaldolase Deficiency |
|
Abnormal respiratory system physiology, Telangiectasia, Premature skin wrinkling |
ORPHA:101028 |
Partington Syndrome |
|
Facial telangiectasia |
ORPHA:94083 |
Monosodium Glutamate Sensitivity |
|
Dyspnea, Palpitations, Flushing |
OMIM:231630 |
Lymphatic Malformation 7 |
|
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... |
OMIM:617300 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Tuberculosis |
|
Weight loss, Cough |
ORPHA:3389 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular outflow tract o... |
OMIM:613255 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythema, Fragile skin, Cutaneous photosensitivity, Dystrophic toenail, Dystrophic fingernails, T... |
ORPHA:158673 |
Neuroendocrine Tumor Of The Colon |
|
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Bronchospasm, Hypotensi... |
ORPHA:100080 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Failure to thrive, Cyanosis, Cough, Tachypnea, Respiratory failure |
OMIM:263000 |
Xeroderma Pigmentosum Variant |
|
Telangiectasia, Cutaneous photosensitivity |
ORPHA:90342 |
Fetal Parvovirus Syndrome |
|
Hydrops fetalis, Thrombocytopenia, Anemia, Hypertrophic cardiomyopathy, Intrauterine growth retar... |
ORPHA:295 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia |
ORPHA:104 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Weight loss, Pulmonary arter... |
ORPHA:1164 |
Ataxia-Telangiectasia |
|
Telangiectasia of the skin, Failure to thrive, Prematurely aged appearance, Mucosal telangiectasi... |
ORPHA:100 |
Pericardial Effusion, Chronic |
|
Polycythemia, Pericardial effusion, Constrictive pericarditis |
OMIM:260900 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Restri... |
ORPHA:1302 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Failure to thrive, Cyanosis, Cough, Tachypnea, Intercostal retractions, Red... |
ORPHA:91359 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Juvenile Dermatomyositis |
|
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Alopec... |
ORPHA:93672 |
Idiopathic Achalasia |
|
Wheezing, Weight loss, Recurrent aspiration pneumonia, Cough |
ORPHA:930 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Lig4 Syndrome |
|
Failure to thrive, Telangiectasia, Cutaneous photosensitivity |
OMIM:606593 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Dyspnea, Heart block, Congestive heart failure |
ORPHA:871 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal cardiac septum morphology, Abnormal hemoglobin, Short stature, Anemia, Thrombocytopenia |
ORPHA:3319 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
Neuroendocrine Tumor Of The Rectum |
|
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Bronchospasm, Hypotensi... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Bronchospasm, Hypotensi... |
ORPHA:100082 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function |
OMIM:604765 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Carcinoid Syndrome |
|
Asthma, Tricuspid regurgitation, Right ventricular failure, Palpitations, Bronchospasm, Heart mur... |
ORPHA:100093 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Telangiectasia of the skin, Telangiectasia, Hypertrophic cardiomyopathy |
ORPHA:79279 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cardiac arrest, Cough |
ORPHA:77260 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Patent ductus arteri... |
OMIM:239850 |
Prolidase Deficiency |
|
Failure to thrive, Asthma, Petechiae, Diffuse telangiectasia, Facial hirsutism, Chronic lung dise... |
OMIM:170100 |
Necrobiosis Lipoidica |
|
Telangiectasia of the skin, Erythema, Fragile skin |
ORPHA:542592 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia, Cutis marmorata |
OMIM:219250 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Sudden cardiac death, Palpitations, Orthopnea, Syncope, Ventricular tac... |
OMIM:613838 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Short stature, Pulmonic stenosis, Microcephaly, Branchial anoma... |
ORPHA:1131 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Tricuspid regurgitation, Chronic pulmonary obstruction, Pulmonic stenosis, ... |
ORPHA:2414 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Failure to thrive |
OMIM:615595 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... |
OMIM:245480 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He... |
OMIM:187300 |
Hemochromatosis, Type 1 |
|
Alopecia, Arrhythmia, Pleural effusion, Telangiectasia, Cardiomyopathy, Congestive heart failure |
OMIM:235200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Hypertrophic cardiomyopathy |
OMIM:604377 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Vasculitis in the skin, Raynaud phenomenon, Retinal hemorrhage, Gastrointestinal hemorrhage, Tela... |
OMIM:192315 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Sparse hair, Raynaud phenomenon, Cutis marmorata, Erythema, Tachypnea, Livedo ... |
OMIM:615934 |
Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... |
ORPHA:2041 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Failure to thrive, Cardiomyopathy |
ORPHA:26792 |
Familial Dilated Cardiomyopathy |
|
Failure to thrive, Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmona... |
ORPHA:217607 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Failure to thrive, Telangiectasia |
OMIM:608799 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Hereditary Hemorrhagic Telangiectasia |
|
Telangiectasia of the skin, Mucosal telangiectasiae, Cerebral hemorrhage, Retinal telangiectasia,... |
ORPHA:774 |
Mastocytosis |
|
Telangiectasia of the skin, Urticaria, Asthma, Respiratory insufficiency, Arrhythmia, Hypotension... |
ORPHA:98292 |
Inhalational Anthrax |
|
Respiratory distress, Hypotension, Abnormal sweat gland morphology, Internal hemorrhage, Dyspnea |
ORPHA:247257 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, Nonimmune hydrops... |
OMIM:619313 |
Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe... |
OMIM:613011 |
Malignant Atrophic Papulosis |
|
Telangiectasia of the skin, Myocardial infarction, Weight loss, Pleural effusion, Gastrointestina... |
ORPHA:679 |
Scleroderma, Familial Progressive |
|
Telangiectasia |
OMIM:181750 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
Solar Urticaria |
|
Urticaria, Dermatographic urticaria, Wheezing, Syncope, Angioedema, Dyspnea |
ORPHA:97230 |
Angioosteohypotrophic Syndrome |
|
Telangiectasia of the skin, Prominent superficial veins |
ORPHA:75508 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Ventricular septal defect, Pericardial effusion, Hypertrophic cardiomyopathy, I... |
OMIM:618775 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss, Cough |
ORPHA:70482 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Melena, Subarachnoid hemorrhage, Hematochezia, Lip telangiectasia, Facial telangiectasia, Fingerp... |
OMIM:600376 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pleural effusion, Generalized edema, Ascit... |
ORPHA:1041 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse body hair, Palmar telangiectasia, Cutis marmo... |
ORPHA:69735 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
Adiposis Dolorosa |
|
Telangiectasia of the skin, Bruising susceptibility, Sparse axillary hair, Sparse pubic hair, Obe... |
ORPHA:36397 |
Congenital Enterovirus Infection |
|
Leukocytosis, Leukopenia, Hydrops fetalis, Myocarditis, Abnormal macrophage morphology, Polyhydra... |
ORPHA:292 |
Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Palpitations, Arrhythmia... |
ORPHA:75566 |
Acute Lung Injury |
|
Respiratory distress, Tachypnea, Shock, Pneumonia, Hypoxemia, Dyspnea, Diffuse alveolar hemorrhag... |
ORPHA:178320 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Dyspnea, Weight loss |
ORPHA:517 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Retinal telangiectasia, Gastrointestinal hemorrhage, Portal hypertension, Premature graying of hair |
OMIM:617341 |
Drug-Induced Lupus Erythematosus |
|
Anemia, Pericarditis, Thrombocytopenia, Pericardial effusion |
ORPHA:231111 |
Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Hepatosplenomegaly, Edema, Ascites, Pericardial effusion |
OMIM:608776 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Telangiectasia |
OMIM:604391 |
Neuroendocrine Tumor Of Stomach |
|
Melena, Hematemesis, Tricuspid regurgitation, Right ventricular failure, Palpitations, Cardiogeni... |
ORPHA:100075 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Failure to thrive, Cutis marmorata, Arrhythmia, Cerebral ischemia |
ORPHA:60040 |
Perry Syndrome |
|
Central hypoventilation, Weight loss, Hypotension |
ORPHA:178509 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia, Dilated cardiomyopathy |
OMIM:611283 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Tachycardia, Hypotension, Tachypnea, Respiratory failure, Pneumonia, Hypoxemia, Cardiac... |
ORPHA:70587 |
Acquired Methemoglobinemia |
|
Respiratory distress, Palpitations, Tachycardia, Arrhythmia, Cyanosis, Syncope, Hypoxemia, Dyspnea |
ORPHA:464453 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Pulmonary arterial hypertension, Congestive heart failure |
OMIM:619751 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia |
OMIM:131400 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Failure to thrive, Hypoxemia, Cyanosis, Respiratory insufficiency, Intersti... |
OMIM:610913 |
Gaucher Disease Type 1 |
|
Splenomegaly, Leukopenia, Pedal edema, Ascites, Abnormal myocardium morphology, Delayed puberty, ... |
ORPHA:77259 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Angina pectoris, Right bundle branch block, Dyspnea, Atrial fibrillation, Hypertrophic cardiomyop... |
OMIM:115195 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Dyspnea, Pulmonary arterial hypertension, Decreased DLCO, Cough |
OMIM:234810 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Polyarteritis Nodosa |
|
Raynaud phenomenon, Cutis marmorata, Erythema, Weight loss, Hypertension, Pericarditis, Cardiomyo... |
ORPHA:767 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Airway obstruction, Atrial arrhythmia, Systolic heart murmur, Right ... |
ORPHA:99105 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Systolic heart murmur, Elevated pulmonary artery pressure, Right b... |
ORPHA:1329 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Trichothiodystrophy 1, Photosensitive |
|
Pili torti, Asthma, Sparse hair, Brittle hair, Tiger tail banding, Small for gestational age, Tri... |
OMIM:601675 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Decreased DLCO, Cough, Tachypnea, Restrictive ventilatory defect, Dyspnea |
OMIM:616414 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Right ventricular failure, Palpitations, Bronchospasm, Heart murmur, Facial telangiectasia, Dyspn... |
ORPHA:100085 |
Inflammatory Bowel Disease 11 |
|
Weight loss, Hematochezia |
OMIM:191390 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Nonproductive cough, Decreased ... |
ORPHA:79127 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Anemia, Atrial septal defect |
OMIM:617408 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Transaldolase Deficiency |
|
Failure to thrive, Asthma, Small for gestational age, Synophrys, Telangiectasia |
OMIM:606003 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Polycythemia Vera |
|
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Bruising susceptibility, Respir... |
ORPHA:729 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Reynolds Syndrome |
|
Telangiectasia of the skin, Mucosal telangiectasiae, Respiratory insufficiency, Generalized abnor... |
ORPHA:779 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Macroglossia, Short stature, ... |
ORPHA:363705 |
Antisynthetase Syndrome |
|
Telangiectasia of the skin, Respiratory insufficiency, Myocarditis, Cough, Aortic regurgitation, ... |
ORPHA:81 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Telangiectasia, Cutaneous photosensitivity, Conjunctival telangiectasia |
OMIM:615919 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Dyspnea, Respiratory insufficiency, Global systolic dysfunction, Cardiomyopathy |
OMIM:606842 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Palpitations, Heart murmur, Syncope, Abnormal cardiovascular system phys... |
ORPHA:422 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Riddle Syndrome |
|
Telangiectasia, Intraventricular hemorrhage, Conjunctival telangiectasia, Erythema, Recurrent sin... |
ORPHA:420741 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... |
OMIM:113900 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Obesity |
OMIM:615993 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia, Aspiration pneumonia, Pulmonary insufficiency, Wheezing, Pneumot... |
ORPHA:70588 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Weight loss |
ORPHA:2198 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... |
ORPHA:860 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... |
ORPHA:555874 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Hypertensive crisis, Dyspnea, Pulmonary arterial hypertension, Conges... |
ORPHA:220393 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Respiratory insufficiency, Arrhythmia, Congestive heart failure |
ORPHA:157973 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:618652 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Failure to thrive, Weight loss, Cachexia |
OMIM:612075 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Hypotensi... |
ORPHA:36238 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Heart mur... |
ORPHA:615 |
Attrv30M Amyloidosis |
|
Weight loss, Arrhythmia, Cardiomyopathy, Atrioventricular block |
ORPHA:85447 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency, Restrictive ventilatory defec... |
OMIM:614399 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Jau... |
ORPHA:57777 |
Xeroderma Pigmentosum, Variant Type |
|
Telangiectasia, Cutaneous photosensitivity |
OMIM:278750 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Epidermodysplasia Verruciformis |
|
Telangiectasia of the skin |
ORPHA:302 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Hypertension, Small for gestational age |
OMIM:616733 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Reduced proportion of CD4+ effector memory T cells, Pericardial effusion, Edema, Ple... |
ORPHA:90362 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block... |
OMIM:115197 |
Erythrokeratodermia Variabilis |
|
Generalized hirsutism, Alopecia, Erythema, Cutaneous photosensitivity, Weight loss, Abnormal hair... |
ORPHA:317 |
Aicardi-Goutieres Syndrome 9 |
|
Left ventricular hypertrophy, Hepatosplenomegaly, Pericarditis, Hemolytic anemia, Edema, Lower li... |
OMIM:619487 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Nipah Virus Disease |
|
Respiratory distress, Hypotension, Cough |
ORPHA:99825 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Acute Promyelocytic Leukemia |
|
Petechiae, Bruising susceptibility, Abnormal bleeding, Oral cavity bleeding, Gingival bleeding, P... |
ORPHA:520 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Retinal telangiectasia, Restrictive ventilatory defect |
OMIM:158900 |
Capillary Malformation-Arteriovenous Malformation |
|
High-output congestive heart failure, Vascular skin abnormality, Chylothorax, Abnormal bleeding, ... |
ORPHA:137667 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Jaundice, Cerebral calcification, Microcephaly, Ascites, Intrauterine growth retard... |
ORPHA:858 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... |
OMIM:612098 |
Polymyositis |
|
Respiratory insufficiency, Arrhythmia, Vasculitis, Cough, Myocardial infarction, Abnormal atriove... |
ORPHA:732 |
Rhabdoid Tumor |
|
Hypertension, Weight loss, Respiratory insufficiency, Internal hemorrhage |
ORPHA:69077 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Angina pectoris, Palpitations, Ventricular tachycardia, Dyspnea, Atrial fibrillation, Hypertrophi... |
OMIM:613873 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Nonproductive cough, Crackles, Generalized abnormality of skin, Wheezing, Restrictive ven... |
ORPHA:2902 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Xeroderma Pigmentosum, Complementation Group E |
|
Telangiectasia, Cutaneous photosensitivity |
OMIM:278740 |
Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Abnormal pattern of respiration, Cerebral ischemia, Vasculitis, Myoc... |
ORPHA:3287 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Respiratory failure, Left ... |
ORPHA:563 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Raynaud phenomenon, Hypertension, Retinal neovascularization, Pneumonia, Gastrointestinal hemorrh... |
ORPHA:247691 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... |
OMIM:608751 |
Interstitial Lung Disease 2 |
|
Decreased DLCO, Cough, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension |
OMIM:178500 |
Gaucher Disease Type 3 |
|
Aortic valve calcification, Splenomegaly, Mitral valve calcification, Hydrops fetalis, Abnormal m... |
ORPHA:77261 |
Laryngeal Neuroendocrine Tumor |
|
Exertional dyspnea, Weight loss |
ORPHA:100083 |
Bullous Pemphigoid |
|
Urticaria, Weight loss, Erythema |
ORPHA:703 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... |
OMIM:608758 |
Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Abn... |
ORPHA:133 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
Evans Syndrome |
|
Petechiae, Jaundice, Bruising susceptibility, Syncope, Dyspnea, Epistaxis |
ORPHA:1959 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macrocephaly, Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... |
ORPHA:254875 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Leukopenia, Myositis, Edema, Pleural effusion, Microangiopathic hemolytic anemia, Th... |
ORPHA:93552 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, P... |
OMIM:601005 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Galactose Epimerase Deficiency |
|
Weight loss, Jaundice |
ORPHA:79238 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Atrioventricular canal defect, Microcephaly, Hypopla... |
ORPHA:453499 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... |
ORPHA:85451 |
Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Angioedema, Pleural effusion, Abnormal heart valve morphology, Ascites, Pericardial... |
ORPHA:36412 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Telangiectasia |
OMIM:615381 |
Werner Syndrome |
|
Pili torti, Telangiectasia of the skin, Subcutaneous calcification, Prematurely aged appearance, ... |
ORPHA:902 |
Diffuse Alveolar Hemorrhage |
|
Pulmonary venous hypertension, Airway obstruction, Increased DLCO, Respiratory failure requiring ... |
ORPHA:90060 |
Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
Pseudoxanthoma Elasticum |
|
Angina pectoris, Telangiectasia of the skin, Bruising susceptibility, Restrictive cardiomyopathy,... |
ORPHA:758 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Failure to thrive |
OMIM:300934 |
Xeroderma Pigmentosum, Complementation Group C |
|
Telangiectasia, Cutaneous photosensitivity |
OMIM:278720 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Urticaria, Failure to thrive, Respiratory insufficiency, Erythema, Ar... |
ORPHA:2135 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse hair, Absent eyebrow, Alopecia, Palmar telangiectasia, Absent eyelashes |
OMIM:607823 |
Primary Familial Polycythemia |
|
Abnormal bleeding, Cough, Dyspnea, Exertional dyspnea, Epistaxis |
ORPHA:90042 |
Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular failure, Syncope, Exertional dyspnea, Pulmonary arterial hyper... |
OMIM:265400 |
Hodgkin Lymphoma |
|
Dyspnea, Weight loss, Cough |
ORPHA:98293 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Splenomegaly, Short stature, Ventricular septal defect, Patent ductus arter... |
ORPHA:290 |
Systemic Sclerosis |
|
Telangiectasia, Intestinal bleeding, Raynaud phenomenon, Alopecia, Right ventricular failure, Myo... |
ORPHA:90291 |
Congenital Sialidosis Type 2 |
|
Generalized hypertrichosis, Telangiectasia, Petechiae, Abnormal EKG |
ORPHA:93400 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Failure to thrive, Left ventricular outflow tract obstruction, Respiratory ... |
ORPHA:308552 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Facial telangiectasia in ... |
OMIM:137940 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Microcephaly, Severe postnatal growth retardation |
ORPHA:435938 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Short stature, Pericardial constriction, Hydrops fetalis, Grow... |
OMIM:253250 |
Pneumocystosis |
|
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... |
ORPHA:723 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Lig4 Syndrome |
|
Telangiectasia of the skin, Cutaneous photosensitivity, Erythema, Low anterior hairline |
ORPHA:99812 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cardiomyopathy, Cough |
ORPHA:86812 |
Coats Disease |
|
Retinal telangiectasia |
OMIM:300216 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... |
ORPHA:1303 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal jugular vein morphology, Reduced left ventricular ejection fraction, Holos... |
ORPHA:1677 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Peripheral edema, Pericardial effusion, Pleural effusion |
ORPHA:79126 |
Congenital Fibrinogen Deficiency |
|
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... |
ORPHA:335 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cerebral atrophy, Splenomegaly, Hydrops fetalis, Ascites, Cardiomegaly, Congestive ... |
OMIM:269920 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Xeroderma Pigmentosum, Complementation Group A |
|
Telangiectasia, Cutaneous photosensitivity |
OMIM:278700 |
Ramon Syndrome |
|
Decreased body weight, Telangiectasia, Hypertrichosis, Angiokeratoma |
OMIM:266270 |
Atrial Septal Defect, Ostium Primum Type |
|
Airway obstruction, Systolic heart murmur, Right bundle branch block, Atrioventricular block, Pal... |
ORPHA:99106 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Cough, Upper airway obstruction, Dyspnea, Weight loss, Stridor |
ORPHA:142 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Failure to thrive, Apnea, Hypoxemia, Cyanosis, Tachypnea, Cough, Neonatal r... |
OMIM:610921 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis |
OMIM:619466 |
Poikiloderma With Neutropenia |
|
Sparse eyebrow, Recurrent sinusitis, Recurrent pneumonia, Nail dystrophy, Telangiectasia, Sparse ... |
OMIM:604173 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal tricuspid valve morp... |
ORPHA:3405 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Dermatomyositis |
|
Telangiectasia of the skin, Abnormal hair quantity, Sinus tachycardia, Respiratory insufficiency,... |
ORPHA:221 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the skin, Lip telangiectasia, Angiokeratoma corporis diffusum, Telangiectasia o... |
ORPHA:79280 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... |
OMIM:612158 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Frontal balding, Atrial flutter, Atrial fibrillation, First degree atrioven... |
OMIM:160900 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Atrial septal defect, Joint contracture of the hand, Mild postnatal growth retardation, Spina bif... |
OMIM:235510 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency, Generalized abnormality of sk... |
ORPHA:367 |
Systemic Capillary Leak Syndrome |
|
Arrhythmia, Hypotension, Myocarditis, Cough, Weight loss, Rhinorrhea, Pleural effusion, Cardiores... |
ORPHA:188 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Jaundice, Small for gestational age, Tachycardia, Arrhy... |
ORPHA:26793 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Failure to thrive, Cardiomyopathy |
ORPHA:79312 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly, Congestive heart failure |
OMIM:618654 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Airway obstruction, Systolic heart murmur, Pneumonia, Transient isch... |
ORPHA:99103 |
Diffuse Neonatal Hemangiomatosis |
|
Hydrops fetalis, Polyhydramnios, Patent ductus arteriosus, Anemia, Thrombocytopenia, Ascites |
ORPHA:2123 |
Acquired Purpura Fulminans |
|
Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Acrocyanosis, Prolonged pro... |
ORPHA:49566 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Subcutaneous hemorrhage, Cutis marmorata, Intracranial hemorrhage, Cachexia, Tel... |
ORPHA:109 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bruising susceptibility, Intracranial hemorrhage, Weight loss, Respiratory failure, Prolonged ble... |
ORPHA:3226 |
Fabry Disease |
|
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Chroni... |
ORPHA:324 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Urticaria, Sinusitis, Recurrent intrapulmonary hemorrhage, Cutis marmorata, Respiratory i... |
ORPHA:183 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... |
OMIM:618280 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
Moynahan Syndrome |
|
Cachexia, Sparse hair, Alopecia |
ORPHA:2574 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Flushing, Positive regitine blocking test, Cerebra... |
ORPHA:94080 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Myocardit... |
ORPHA:3342 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... |
ORPHA:330001 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
OMIM:237310 |
Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, Arrhythmia, Dilated car... |
OMIM:300257 |
Xeroderma Pigmentosum, Complementation Group D |
|
Corneal neovascularization, Telangiectasia, Cutaneous photosensitivity |
OMIM:278730 |
Juvenile Idiopathic Arthritis |
|
Joint swelling, Pericardial effusion, Splenomegaly |
ORPHA:92 |
Pontocerebellar Hypoplasia, Type 2E |
|
Failure to thrive, Facial telangiectasia |
OMIM:615851 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Failure to thrive, Respiratory distress, Sparse hair |
ORPHA:261304 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
Q Fever |
|
Splenomegaly, Anemia, Hepatosplenomegaly, Endocarditis, Myocarditis, Pleural effusion, Abnormal h... |
ORPHA:781 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Pulmonary venous hypertension, Hypoxemia, Raynaud phenomenon, Crackles, Wheezi... |
ORPHA:79128 |
Avian Influenza |
|
Respiratory distress, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productive cough, Pneu... |
ORPHA:454836 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Decreased DLCO, Cough, Restrictive ventilatory defect, Hypoxemia, Dyspnea, We... |
ORPHA:747 |
Mercury Poisoning |
|
Respiratory distress, Interstitial pneumonitis, Tachycardia, Hypotension, Dyspnea, Hypertension, ... |
ORPHA:330021 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Oligohydramnios, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Palpitations, Tachycardia |
OMIM:188580 |
Cap Polyposis |
|
Weight loss, Hematochezia |
ORPHA:160148 |
Pemphigus Vulgaris |
|
Urticaria, Weight loss |
ORPHA:704 |
Asbestos Intoxication |
|
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Right ve... |
ORPHA:2302 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Short stature, Branchial fistula, Microcephaly, Ventricular septal defect, ... |
ORPHA:261330 |
Familial Nasal Acilia |
|
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea |
ORPHA:922 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Sparse eyelashes, Small for gestational age, Trac... |
OMIM:234100 |
Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Macrocephaly, Microcephaly, Short neck, Abnormality of the s... |
ORPHA:2162 |
Livedoid Vasculopathy |
|
Telangiectasia of the skin, Cutis marmorata, Macular purpura, Poor wound healing, Ecchymosis, Hyp... |
ORPHA:542643 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Hydrops fetalis, Poikilocytosis, Congenital hemolytic anemia,... |
ORPHA:766 |
Poems Syndrome |
|
Polycythemia, Thrombocytosis, Edema, Pleural effusion, Ascites, Pericardial effusion |
ORPHA:2905 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Oligohydramnios, Neonatal death, Camptodactyly, Patent ductus arteriosus, Edema, Anemia, Thromboc... |
OMIM:608104 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Dyspnea, Bruising susceptibility |
ORPHA:231401 |
Naxos Disease |
|
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... |
OMIM:601214 |
Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia, Atrial septal defect |
ORPHA:51208 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Pericardial effusion |
OMIM:115200 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Telangiectasia, Frontal upsweep of hair |
OMIM:612582 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Pericardial effusion, Muscular dystrophy, Dilated cardiomyopathy, Abnormal myocardium morphology |
ORPHA:300751 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... |
ORPHA:66529 |
Mucolipidosis Type Ii |
|
Abnormal atrioventricular valve physiology, Telangiectases of the cheeks, Mitral regurgitation, P... |
ORPHA:576 |
Alkuraya-Kucinskas Syndrome |
|
Edema, Pericardial effusion, Arthrogryposis multiplex congenita, Camptodactyly |
OMIM:617822 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Weight loss, Tachypnea, Alopecia |
ORPHA:79242 |
Rodrigues Blindness |
|
Fine hair, Sparse hair, Nasal flaring, Ectodermal dysplasia |
OMIM:268320 |
Infantile Systemic Hyalinosis |
|
Telangiectasia of the skin, Urticaria, Failure to thrive |
ORPHA:2176 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Interstitial pneumonitis, Erythema, Myocarditis, Cough, Angioedema, Dyspnea, Weight loss, Cardiac... |
ORPHA:139402 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Asthma, Epistaxis, Abnormal hair pattern, Telangiectasia, Highly arched eyebrow |
ORPHA:495818 |
Kaposiform Lymphangiomatosis |
|
Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Pleural effusion, Anemia, Thrombocy... |
ORPHA:464329 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Failure to thrive, Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Prolonged neonatal jaundice, Respiratory distress, Bradycardia |
ORPHA:226313 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Microcephaly, Hydrops fetalis, Short neck, Cerebellar hypoplasia, Ventricular septal defect, Poly... |
OMIM:616897 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Microcephaly, Periventricular leukomalacia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Sudden cardiac death, Microcephaly, H... |
OMIM:201475 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Melena, Pneumonia, Respiratory failure, Decreased body weight, Palpitations... |
ORPHA:340 |
Laryngeal Web, Familial |
|
Respiratory distress, Stridor |
OMIM:150360 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... |
OMIM:619051 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Aicardi-Goutieres Syndrome 7 |
|
Splenomegaly, Limb hypertonia, Oligohydramnios, Thrombocytopenia, Hemolytic anemia, Edema, Pancyt... |
OMIM:615846 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... |
ORPHA:254864 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Arrhythmia, Wheezing, Cough, Weight loss, Failure to thrive in infancy |
ORPHA:171876 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Telangiectasia of the skin |
ORPHA:85321 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Mitral regurgitation, Telangiectasia, Epistaxis, Hematochezia |
OMIM:175050 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Hirsutism, Mucosal telangiectasiae, Eunuchoid habitus, Synophrys, Low posterior hairline |
ORPHA:2463 |
Pulmonary Hypertension, Primary, 3 |
|
Dyspnea, Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary... |
OMIM:615343 |
Rothmund-Thomson Syndrome, Type 2 |
|
Sparse scalp hair, Premature graying of hair, Sparse hair, Sparse eyebrow, Alopecia, Absent eyebr... |
OMIM:268400 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Short stature, Poikilocytosi... |
OMIM:615631 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Failure to thrive, Hypertrichosis, Apnea, Pulmonic stenosis, Mitral regurgi... |
ORPHA:70474 |
Neuraminidase Deficiency |
|
Hepatomegaly, Facial edema, Short stature, Splenomegaly, Hydrops fetalis, Ascites, Cardiomyopathy... |
OMIM:256550 |
Oligomeganephronia |
|
Branchial cyst, Hypertension, Dehydration, Secundum atrial septal defect |
ORPHA:2260 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss, Hematochezia |
ORPHA:103910 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Failure to thrive, Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Riboflavin Transporter Deficiency |
|
Hypertension, Respiratory insufficiency, Sleep apnea, Cachexia |
ORPHA:97229 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal blood gas level, Vasculitis, Hypotension, Shock, Pneumonia, Hypoxemia, Dyspnea, Respirat... |
ORPHA:70578 |
Sepsis In Premature Infants |
|
Petechiae, Decreased body weight, Small for gestational age, Abnormal bleeding, Cyanosis, Tachyca... |
ORPHA:90051 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss, Congestive heart failure |
OMIM:275000 |
Aortic Arch Interruption |
|
Intermittent claudication, Respiratory distress, Blood pressure substantially higher in arms than... |
ORPHA:2299 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid valve prolapse, Macrocephaly, Tricuspid regurgitation, Branchial fistula, Microcephaly,... |
ORPHA:261337 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Nonimmune hydrops fetalis, Anemia, Intrauterine growth retardation, Cardiomegaly |
OMIM:618838 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Urticaria, Dermatographic urticaria, Hypotension, Inspiratory stridor, Dyspnea |
ORPHA:100050 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Flexion contracture, Nonimmune hydrops fetalis, Thrombocytosis, Cardiomyopathy, Edema, Pericardit... |
OMIM:212065 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Abnormal na... |
ORPHA:167 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Splenomegaly, Hydrops fetalis, Pericarditis, Polyhydramnios, Anemia, Oligohy... |
ORPHA:163596 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Endocardial fibroelastosis, Decreased carnitine level in liver, Hypertrophic cardio... |
OMIM:212140 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Congestive heart failure, Atrial septal defect, Pulmonary ede... |
ORPHA:980 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Palpitations, Elevated pulmonary artery pressure, Heart murmur, Syncope,... |
ORPHA:275766 |
Alagille Syndrome |
|
Telangiectasia of the skin, Failure to thrive, Hypertension |
ORPHA:52 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Failure to thrive, Apnea, Cyanosis, Tachypnea, Neonatal respiratory distress, Dyspnea, Pulmonary ... |
OMIM:265120 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect, Leukocyte inclusion bodies, Lymphedema, Anemia, Acute myeloid leuk... |
OMIM:223350 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Patent ... |
ORPHA:1457 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Jaundice, Spider hemangioma |
ORPHA:2137 |
Klippel-Trénaunay Syndrome |
|
Respiratory insufficiency, Pulmonary embolism, Prolonged bleeding time, Internal hemorrhage, Gast... |
ORPHA:90308 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive, Cerebral ischemia |
ORPHA:927 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Tetanus |
|
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia |
ORPHA:3299 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Failure to thrive |
OMIM:618426 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy, Ventricular tachycardia, ... |
OMIM:600649 |
Arterial Tortuosity Syndrome |
|
Telangiectases of the cheeks, Aortic valve stenosis, Bruising susceptibility, Aortic regurgitatio... |
OMIM:208050 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... |
OMIM:620066 |
Tularemia |
|
Respiratory distress, Tachycardia, Cough, Pleural effusion, Pneumonia |
ORPHA:3392 |
Al Amyloidosis |
|
Abnormal P wave, Jaw claudication, Bruising susceptibility, Nonproductive cough, Arrhythmia, Abno... |
ORPHA:85443 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
High-output congestive heart failure, Cerebral hemorrhage, Cyanosis, Right-to-left shunt, Subarac... |
OMIM:610655 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss, Hypertrophic cardiomyopathy, Respiratory insufficiency |
ORPHA:1842 |
Atrial Septal Defect, Coronary Sinus Type |
|
Supraventricular arrhythmia, Bundle branch block, Left-to-right shunt, Systolic heart murmur, Pre... |
ORPHA:99104 |
Bloom Syndrome |
|
Abdominal obesity, Chronic pulmonary obstruction, Patchy alopecia, Sparse eyelashes, Small for ge... |
ORPHA:125 |
Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... |
ORPHA:137914 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Cutaneous photosensitivity |
ORPHA:312 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Supernumerary nipple, Alopecia, Erythema, Retinal hemorrhage, Cerebra... |
ORPHA:464 |
Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, T... |
ORPHA:75249 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Telangiectasia, Highly arched eyebrow, Supernumerary nipple |
ORPHA:247262 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Atrial septal defect, Optic nerve hypoplasia, Microcephaly, Hypoplasia of ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Atrial septal defect, Optic nerve hypoplasia, Microcephaly, Hypoplasia of ... |
ORPHA:352665 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss, Tachycardia |
OMIM:613239 |
Hypercalcemia, Infantile, 1 |
|
Pulmonic stenosis, Failure to thrive, Weight loss, Aortic valve stenosis |
OMIM:143880 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Weight loss |
OMIM:605543 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Respiratory distress, Prolonged QRS complex, Cerebral hemorrhage, Di... |
ORPHA:90068 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Conjunctival telangiectasia, Facial telangiectasia |
OMIM:208910 |
Xeroderma Pigmentosum |
|
Telangiectasia of the skin, Failure to thrive, Alopecia, Conjunctival telangiectasia, Erythema, C... |
ORPHA:910 |
Myhre Syndrome |
|
Generalized muscle hypertrophy, Aortic valve stenosis, Atrial septal defect, Skeletal muscle hype... |
OMIM:139210 |
Thymic Carcinoma |
|
Dyspnea, Weight loss, Cough |
ORPHA:99868 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Pulmonary edema, Hypotension, Shortened PR interval, Biventricular hype... |
OMIM:261740 |
CantĂș Syndrome |
|
Macrocephaly, Short neck, Patent ductus arteriosus, Umbilical hernia, Abnormal heart valve morpho... |
ORPHA:1517 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Congenital Tracheomalacia |
|
Failure to thrive, Apnea, Tracheomalacia, Decreased peak expiratory flow, Cyanosis, Respiratory i... |
ORPHA:95430 |
Colchicine Poisoning |
|
Respiratory distress, Alopecia, Hypovolemia, Arrhythmia, Cardiogenic shock, Hypotension, Myocardi... |
ORPHA:31824 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Stt3B-Cdg |
|
Respiratory distress, Failure to thrive |
ORPHA:370924 |
Rare Cutaneous Lupus Erythematosus |
|
Telangiectasia of the skin, Urticaria, Vascular skin abnormality, Leukonychia, Erythema, Cutaneou... |
ORPHA:535 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
H Syndrome |
|
Abnormal eyebrow morphology, Hypertrichosis, Alopecia, Chronic rhinitis, Abnormal cardiovascular ... |
ORPHA:168569 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Mitral valve prolapse, Aortic root aneurysm, Umbilical hernia, Carotid artery stenosis, Pericardi... |
ORPHA:536532 |
Amoebiasis Due To Entamoeba Histolytica |
|
Pleural empyema, Constrictive pericarditis, Cough, Pleural effusion, Dyspnea, Weight loss, Conges... |
ORPHA:67 |
Martin-Probst Syndrome |
|
Telangiectasia, Hypoplastic nipples |
OMIM:300519 |
Tetrasomy 5P |
|
Respiratory distress, Failure to thrive, Cyanosis, Heart murmur, Pulmonary arterial hypertension,... |
ORPHA:3309 |
Angioosteohypertrophic Syndrome |
|
Telangiectasia of the skin, Cutis marmorata, Pulmonary embolism, Gastrointestinal hemorrhage, Con... |
ORPHA:2346 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Failure to thrive |
OMIM:615597 |
Oculopharyngodistal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Weight loss, Re... |
ORPHA:98897 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Short stature, Camptodactyly, Patent ductus arteriosus, Postnata... |
ORPHA:1272 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema, Cerebral cortical atrophy, Cerebellar hypoplasia, Cardiomegaly |
ORPHA:3137 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Bloom Syndrome |
|
Hypertrichosis, Facial telangiectasia in butterfly midface distribution, Small for gestational ag... |
OMIM:210900 |
Rheumatoid Arthritis |
|
Weight loss, Vasculitis |
OMIM:180300 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Failure to thrive, Exertional dyspnea, Hypertrophic cardiomyopathy, Respira... |
OMIM:220110 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency, Respiratory failure, Prolonge... |
OMIM:615512 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Cachexia, Weight loss, Premature graying of hair, Abnormal h... |
ORPHA:1979 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Pulmonary Capillary Hemangiomatosis |
|
Pedal edema, Pulmonary edema, Pericardial effusion, Pleural effusion |
ORPHA:199241 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Oligohydramnios, Hydrops fetalis, Short neck, Ventricular septal defect, Stiff neck,... |
OMIM:617022 |
Laryngotracheoesophageal Cleft |
|