| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... |
OMIM:314050 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Epistaxis, Impaired ADP-induced platelet aggregation, Macrothrombocyt... |
OMIM:155100 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Bernard-Soulier Syndrome |
|
Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopen... |
OMIM:231200 |
| Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant platelets, Neutrophil inc... |
ORPHA:182050 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impa... |
OMIM:153670 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia |
OMIM:616176 |
| Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... |
OMIM:620203 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough |
OMIM:263000 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Decreased mean platelet volume |
OMIM:273900 |
| Sitosterolemia 1 |
|
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
| Bernard-Soulier Syndrome |
|
Spontaneous, recurrent epistaxis, Asthma, Decreased platelet glycoprotein Ib-IX-V, Giant platelet... |
ORPHA:274 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
| Congenital Myopathy 8 |
|
Reduced vital capacity, Respiratory insufficiency, Cardiomegaly |
OMIM:618654 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... |
OMIM:300770 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO |
OMIM:616414 |
| Takenouchi-Kosaki Syndrome |
|
Increased mean platelet volume, Thrombocytopenia, Abnormal cardiac septum morphology, Pulmonic st... |
OMIM:616737 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... |
ORPHA:217563 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
| Syndromic Diarrhea |
|
Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Increased mean plate... |
ORPHA:84064 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Pseudo-Torch Syndrome 3 |
|
Apnea, Cardiomegaly, Leukocytosis, Respiratory insufficiency, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Left ventricular hypertrophy, Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
| Fixed Subaortic Stenosis |
|
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Abnormal hear... |
ORPHA:3092 |
| Coronary Arterial Fistula |
|
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr... |
ORPHA:2041 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... |
ORPHA:36238 |
| Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Dyspnea, Tachypnea, Pulmonic stenosis, Atrial septal defect, Hypertrop... |
ORPHA:3282 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Exertional dyspnea |
ORPHA:615 |
| Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Dextrocardia, Secundum atrial septal defect, Asthma, Tachyp... |
ORPHA:2257 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Iron deficiency anemia, Restri... |
ORPHA:99931 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Splenomegaly, Pulmonic s... |
OMIM:222470 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly |
ORPHA:858 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Respiratory arrest, Cardiomegaly |
OMIM:600649 |
| Thrombocytopenia 1 |
|
Epistaxis, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytop... |
OMIM:313900 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Crackles, Asthma,... |
OMIM:610978 |
| Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
| Acute Interstitial Pneumonia |
|
Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemi... |
ORPHA:79126 |
| Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Tachypnea, Left ventricular noncompaction |
OMIM:616501 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de... |
ORPHA:1329 |
| Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Respiratory distress, Cardiomegaly, Pericardial effusion, ... |
OMIM:115197 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency,... |
OMIM:614299 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Apnea, Tachypnea, Anemia, Cardiomyopathy, Neutropenia, Thrombocytopenia |
OMIM:606054 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Total anomalous pulmonary venous return, Increased mean platelet volume, Abnorm... |
ORPHA:487796 |
| Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Tachypnea, Hep... |
ORPHA:71275 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Tachypnea, Normochromic anemia, Neutropenia, Atrial septal defect, Pulmonary arterial hypertensio... |
OMIM:614857 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hyp... |
OMIM:212140 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:269920 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, Absence of alpha granules, Im... |
OMIM:187900 |
| Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Hyp... |
OMIM:603903 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Paten... |
ORPHA:439 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Tachypnea, Respiratory arrest, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Joubert Syndrome 7 |
|
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:611560 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
| Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect, Episodic tachypnea |
OMIM:615160 |
| Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Pulmonary arterial hypertension, Tetralogy of... |
OMIM:601005 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg... |
ORPHA:308552 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Thrombocytopenia |
ORPHA:79242 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia, Abnormal heart morphology |
ORPHA:79264 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Joubert Syndrome 3 |
|
Atrial septal defect, Episodic tachypnea, Neonatal breathing dysregulation, Central apnea |
OMIM:608629 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... |
OMIM:610921 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Tachypnea |
OMIM:620085 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Pleural effusion |
OMIM:235200 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Recurrent pneumonia, Cardiomegaly |
ORPHA:3137 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Ventricular septal defect, Episodic tachypnea, Pneumonia, Per... |
ORPHA:26793 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Tachypnea, Cardiomegaly |
OMIM:613320 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... |
OMIM:265120 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Episodic tachypnea, Abnormal heart morphology |
ORPHA:2872 |
| Familial Aortic Dissection |
|
Exertional dyspnea, Paroxysmal dyspnea, Cardiomegaly |
ORPHA:229 |
| Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Cardiomegaly, Hepatosplenomegaly, Atr... |
ORPHA:79330 |
| Double Outlet Right Ventricle |
|
Ventricular septal defect, Tachypnea, Double outlet right ventricle, Hypoplastic left heart, Pulm... |
ORPHA:3426 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Recurrent pneumonia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean |
OMIM:604320 |
| Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial s... |
OMIM:306955 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Exertional dyspnea, Cardiomegaly |
ORPHA:42 |
| Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Tachypnea, Aortic valve a... |
ORPHA:2299 |
| Absence Of The Pulmonary Artery |
|
Orthopnea, Cardiomegaly, Nonproductive cough, Dyspnea, Recurrent pneumonia, Bronchiectasis, Abnor... |
ORPHA:980 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Anemia |
OMIM:615838 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... |
ORPHA:363705 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosp... |
OMIM:608013 |
| Atrial Septal Defect, Ostium Primum Type |
|
Left atrial enlargement, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Airway obstr... |
ORPHA:99106 |
| Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:3095 |
| Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Splenomegaly, Dyspnea, Tachypnea, Anemia |
OMIM:239200 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen co... |
OMIM:261740 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
| Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Mitral valve calcification, Increased pulmonary vascular resistance, Nonproductive ... |
ORPHA:60025 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Pleural effusion, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Respiratory insufficiency due to muscle weakness, Splenomegaly, Dyspn... |
OMIM:232300 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Thrombocytopenia, Hyperventilation |
OMIM:253270 |
| Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Tachypnea |
ORPHA:765 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Elevated pulmonary artery pressure, Left ven... |
ORPHA:57777 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Apnea, Leukocytosis, Dilated cardiomyopathy, Tachypnea, Leukopenia, Thrombocytosis,... |
ORPHA:20 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Tachypnea, Leukopenia, Thrombocytosis, Lymphopenia, Anemia |
OMIM:615934 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Tachypnea, Cough, Thrombocytosis |
ORPHA:134 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Neonatal respiratory distress, Apnea, Cardiomegaly, Dilated cardiomyopathy, Respira... |
OMIM:608836 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, A... |
ORPHA:348 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Cardiomegaly |
OMIM:620306 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
| Citrullinemia Type I |
|
Tachypnea |
ORPHA:247525 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Myocarditis, Tachypnea, Increased circulating myelocy... |
ORPHA:36234 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
| Biotinidase Deficiency |
|
Splenomegaly, Hepatomegaly, Tachypnea, Apnea |
OMIM:253260 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tachypnea, Abnormal hea... |
ORPHA:3384 |
| Joubert Syndrome |
|
Situs inversus totalis, Apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:475 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Tetanus |
|
Respiratory distress, Tachypnea |
ORPHA:3299 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Respiratory failure, Cardiomegaly |
ORPHA:158687 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dyspnea, Dilated cardiomyopathy, Pulmonary... |
OMIM:614921 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Dyspnea, Right ventricular hypertrophy, Pleural effusion, Atrial sept... |
ORPHA:1677 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:465508 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Tachypnea |
OMIM:613834 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Malignant Hyperthermia Of Anesthesia |
|
Tachypnea, Cardiomyocyte mitochondrial proliferation, Hypercapnia |
ORPHA:423 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Orthopnea, Cardiomegaly, Respiratory insufficiency due to mus... |
ORPHA:365 |
| Joubert Syndrome With Oculorenal Defect |
|
Tachypnea, Apnea |
ORPHA:2318 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Cardiomyopathy, Abnormal myocardium mo... |
ORPHA:228308 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Tachypnea, Cough |
ORPHA:137675 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Pneumothorax, Paroxysmal dyspnea, Exertional dyspnea |
ORPHA:91387 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
| Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Acanthocytosis, Cardiomegaly, Respiratory failure, Anemia |
ORPHA:14 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Upper airway obstruction, Abnormal aortic valve morphol... |
ORPHA:581 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Orthopnea, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia,... |
ORPHA:75565 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:230000 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease |
ORPHA:397715 |
| Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea, Abnormal heart morphology |
ORPHA:2754 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Cholera |
|
Tachypnea, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Serotonin Syndrome |
|
Tachypnea |
ORPHA:43116 |
| Cocaine Intoxication |
|
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation |
ORPHA:90068 |
| Ethylene Glycol Poisoning |
|
Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration |
ORPHA:31826 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent pneumonia, Hypertrophic cardiomyopathy, Enlar... |
OMIM:252500 |
| Arima Syndrome |
|
Dyspnea, Hepatomegaly, Tachypnea, Anemia |
OMIM:243910 |
| Joubert Syndrome 2 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608091 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema, Anemia |
OMIM:613658 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Apnea, Cardiomegaly |
ORPHA:97297 |
| Joubert Syndrome 1 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:213300 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, Cough,... |
OMIM:619991 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Tachypnea, Abnormal pattern of respiration |
ORPHA:3008 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Tachypnea |
OMIM:615751 |
| Goodpasture Syndrome |
|
Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Anemia, Exertional dy... |
OMIM:233450 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi... |
ORPHA:51 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Tachypnea |
ORPHA:415 |
| Orofaciodigital Syndrome Type 2 |
|
Atrioventricular canal defect, Tachypnea, Apnea |
ORPHA:2751 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocapnia, Tachypnea, Thrombocytopenia, Crackles |
ORPHA:466650 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:610188 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Recurrent sinusitis, Thrombocytopenia |
OMIM:256040 |
| Scorpion Envenomation |
|
Abnormal nasal mucus secretion, Myocarditis, Tachypnea |
ORPHA:466677 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Tachypnea, Aortic valve atresia, Left ventricular hypertro... |
OMIM:220111 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Polycythemia, Visceromegal... |
ORPHA:116 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Pulmonary arterial... |
ORPHA:3472 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:904 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Respiratory distress, Cardiomegaly, Pericardial effusion, Myocardial cal... |
ORPHA:51608 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Pleural effusion, Subvalvul... |
OMIM:182250 |
