| Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Depre... |
ORPHA:280397 |
| Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
| Cholesterol Pneumonia |
|
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis |
OMIM:215030 |
| Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Death in infancy, Desquamative interstitial pneumonitis, Tachypnea... |
OMIM:265120 |
| Asbestos Intoxication |
|
Wheezing, Right ventricular failure, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea,... |
ORPHA:2302 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Neonatal respiratory distress, Death in infancy, Desquamative interstitial pneumonitis, Nonspecif... |
OMIM:610921 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Bronchopulmonary Dysplasia |
|
Wheezing, Right ventricular failure, Central apnea, Hyperoxemia, Abnormal respiratory system phys... |
ORPHA:70589 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Recurrent upper re... |
OMIM:263000 |
| Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
| Huntington Disease-Like 2 |
|
Dementia, Weight loss, Apathy, Irritability, Anxiety, Depression |
OMIM:606438 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... |
OMIM:610913 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Bradycardia, Tachycardia, Respiratory tract infection, Pulmonary... |
ORPHA:70587 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Dementia, Inappropriate behavior, Motor deterioration, Apathy, Frontotemporal dementia, Anxiety, ... |
ORPHA:412066 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Pleural Mesothelioma |
|
Abnormal respiratory system physiology, Cough, Respiratory distress, Abnormal cardiovascular syst... |
ORPHA:50251 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Cognitive impairment, Bronchiolitis |
OMIM:615993 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, EEG abnormality |
ORPHA:436151 |
| Cyanosis And Hepatic Disease |
|
Cyanosis, Dyspnea |
OMIM:219400 |
| Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Dysmetria, Focal dystonia, Progressive cerebellar ataxia,... |
OMIM:605361 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age |
ORPHA:356996 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Congenital Pulmonary Lymphangiectasia |
|
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Tricuspid regurgitation, P... |
ORPHA:2414 |
| Apnea, Central Sleep |
|
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration |
OMIM:207720 |
| Cryptogenic Organizing Pneumonia |
|
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Respiratory distress,... |
ORPHA:1302 |
| Recurrent Respiratory Papillomatosis |
|
Wheezing, Syncope, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respi... |
ORPHA:60032 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Subpleural honeycombing, Hypertension, Crac... |
ORPHA:79126 |
| Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Hypoxemia, Pulmonary capillary hemangiomatosis, Interlobular septal th... |
ORPHA:199241 |
| Juvenile Huntington Disease |
|
Dystonia, Dementia, Chorea, Weight loss, Bradykinesia, Hyperactivity, Progressive cerebellar atax... |
ORPHA:248111 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Lung abscess, Pneumonia, Cough, Cyanosis, Recurrent respiratory infections, Decreased ... |
OMIM:610910 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Tachycardia, Respiratory distress, A... |
ORPHA:264675 |
| Laryngotracheal Angioma |
|
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions |
ORPHA:137935 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism, Warfarin-induced skin necrosis |
OMIM:176860 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Bronchiolitis obliterans, Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, B... |
ORPHA:1303 |
| Tracheopathia Osteoplastica |
|
Wheezing, Dyspnea, Recurrent pneumonia, Cough |
OMIM:189961 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Respiratory distress, Cyanosis, Low-output congestive heart failure |
ORPHA:91130 |
| Interstitial Lung Disease 2 |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... |
OMIM:178500 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
| Pulmonary Arteriovenous Malformation |
|
Hypoxemia, Telangiectasia, Palpitations, Epistaxis, Pulmonary arterial hypertension, Cough, Pulmo... |
ORPHA:2038 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased body weight |
OMIM:608747 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Severe Acute Respiratory Syndrome |
|
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... |
ORPHA:140896 |
| Gaucher Disease Type 2 |
|
Abnormal pattern of respiration, Cough, Respiratory distress, Cardiac arrest, Recurrent respirato... |
ORPHA:77260 |
| Childhood Disintegrative Disorder |
|
Dementia, Motor deterioration, Social and occupational deterioration, Mental deterioration, Anxie... |
ORPHA:168782 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
| Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... |
OMIM:267450 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Dementia, Cognitive impairment, Apathy, Anxiety, Depression |
OMIM:615483 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
| Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Stridor, Cough, Aspiration, Recurrent respiratory infections, Cyan... |
ORPHA:2004 |
| Lennox-Gastaut Syndrome |
|
Falls, EEG with focal sharp slow waves, Hyperactivity, EEG abnormality, Mental deterioration |
ORPHA:2382 |
| Acute Lung Injury |
|
Shock, Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial mor... |
ORPHA:178320 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Mental deterioration, Attention deficit hyperactivity disorder, Difficulty wal... |
OMIM:619191 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Cough, Decreased DLCO, Pulm... |
OMIM:234810 |
| Meconium Aspiration Syndrome |
|
Wheezing, Hypoxemia, Pulmonary insufficiency, Atelectasis, Pneumothorax, Pulmonary arterial hyper... |
ORPHA:70588 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Slc35A1-Cdg |
|
Hypoxemia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Respiratory distress, Prolon... |
ORPHA:238459 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... |
ORPHA:99103 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Dystonia, Hyperactivity, Ataxia |
OMIM:615924 |
| Epilepsy, Pyridoxine-Dependent |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:266100 |
| Atrial Septal Defect, Ostium Primum Type |
|
Syncope, Abnormal respiratory system physiology, Third heart sound, Exertional dyspnea, Abnormall... |
ORPHA:99106 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Pulmonary pneumatocele, Cough, Pleural empy... |
ORPHA:36238 |
| Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Tachypnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions, Reduced for... |
ORPHA:91359 |
| Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Apnea, ... |
ORPHA:2257 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Wheezing, Hypoxemia, Honeycomb lung, Chronic pulmonary obstruction, Chronic bronchitis, Bronchiec... |
ORPHA:79127 |
| Landau-Kleffner Syndrome |
|
EEG with temporal focal spikes, Steppage gait, EEG with generalized epileptiform discharges, Soci... |
ORPHA:98818 |
| Heparin-Induced Thrombocytopenia |
|
Myocardial infarction, Pulmonary embolism, Cerebral ischemia, Abnormal onset of bleeding |
ORPHA:3325 |
| Idiopathic Bronchiectasis |
|
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... |
ORPHA:60033 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Cough, Pulmonary hemorrhage, A... |
OMIM:616414 |
| Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Pneumonia, Systolic heart murmur, Palpit... |
ORPHA:99104 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... |
ORPHA:254875 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Respiratory distress |
OMIM:614399 |
| Complete Atrioventricular Septal Defect |
|
Wheezing, Right ventricular failure, Left-to-right shunt, Abnormal P wave, Crackles, Systolic hea... |
ORPHA:1329 |
| Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Respiratory distress, Death in infancy |
OMIM:604377 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Elevated bronchoalveolar... |
OMIM:610978 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... |
OMIM:254210 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Restrictive ventilatory defect, Hypoxemia, Subpleural interstitial thi... |
ORPHA:60025 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, EEG abnormality |
OMIM:239500 |
| Cln5 Disease |
|
Dysmetria, EEG with generalized slow activity, Multifocal epileptiform discharges, Hyperactivity,... |
ORPHA:228360 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Reduced ejection fraction, Tachypnea, Supraventricular tachycardia, Abnorma... |
ORPHA:45452 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Small for gestational age |
ORPHA:85288 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... |
ORPHA:411703 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Syncope, Palpitations, Tachycardia, Respiratory distress, Cyanosis, Dyspnea, Arrhythmia |
ORPHA:464453 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Crackles, Cough, Cyanosis, Decreased DLCO, Restrictive ventilato... |
ORPHA:747 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary venous occlusion, Interlobular septal thickening, Elevated jugular venous pressure, Pul... |
OMIM:265450 |
| Familial Nasal Acilia |
|
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Recurrent upper respir... |
ORPHA:922 |
| Rasmussen Subacute Encephalitis |
|
Increased theta frequency activity in EEG, Hemidystonia, EEG with focal epileptiform discharges, ... |
ORPHA:1929 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Paroxysmal dyspnea, Stridor, Cognitive impairment, Cyanosis, Congest... |
ORPHA:444013 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:1832 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... |
OMIM:605809 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Continuous spike and waves during slow s... |
OMIM:301008 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Angioedema, Erythema, Upper airway obstruction, Respiratory distress, Abnormal capillary physiology |
ORPHA:100057 |
| Alpha-1-Antitrypsin Deficiency |
|
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea |
OMIM:613490 |
| Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
| Choanal Atresia |
|
Chronic sinusitis, Upper airway obstruction, Respiratory distress, Cyanosis, Abnormal nasal mucus... |
ORPHA:137914 |
| Malaria |
|
Respiratory distress, Cognitive impairment |
ORPHA:673 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis |
OMIM:612336 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Mental deterioration, Respiratory distress, Memory impairment |
ORPHA:240085 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
| Congenital Tracheomalacia |
|
Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir... |
ORPHA:95430 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, EEG with focal epileptiform discharges, Chorea, EEG with generalized epileptiform disch... |
ORPHA:88616 |
| Laryngeal Web, Familial |
|
Respiratory distress, Recurrent upper respiratory tract infections, Stridor |
OMIM:150360 |
| Larsen-Like Syndrome, Lethal Type |
|
Pulmonary insufficiency, Pulmonary hypoplasia, Respiratory insufficiency, Neonatal death, Tracheo... |
OMIM:245650 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
| Progressive Supranuclear Palsy |
|
Dystonia, Dementia, Cognitive impairment, Falls, Bradykinesia, Abnormal synaptic transmission, Un... |
ORPHA:683 |
| Nipah Virus Disease |
|
Recurrent pharyngitis, Respiratory distress, Cough, Hypotension |
ORPHA:99825 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Neonatal death, Pulmonary arterial hypertension, Cardiomyopathy, P... |
OMIM:619003 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Chromosome 3Q29 Deletion Syndrome |
|
Failure to thrive, Hyperactivity, Gait ataxia, Small for gestational age |
OMIM:609425 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Pulmonary hypoplasia, Hypertension |
OMIM:616733 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Restrictive ventilatory defect, Exertional dyspnea, Cyanosis, Orthopnea, Reduced vital capacity, ... |
ORPHA:98913 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Tricuspid Atresia |
|
Cyanosis, Pulmonary artery atresia |
ORPHA:1209 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... |
OMIM:612387 |
| Early-Onset Schizophrenia |
|
Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive impairment, Irritability, Anhedon... |
ORPHA:96369 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Intracranial hemorrhage, Gingival bleeding, Joint hemorrhage, Persistent bleeding after trauma, A... |
ORPHA:79 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Hyperactivity, Lethargy |
OMIM:274270 |
| Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Neonatal death, Respiratory insufficiency |
OMIM:601612 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory insufficiency, Cognitive impairment, Respiratory distress, Abnormal anterior horn cel... |
ORPHA:1145 |
| Morm Syndrome |
|
Hyperactivity, Truncal obesity |
ORPHA:75858 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal neuron morphology, Interictal epileptiform activity, EEG with generalized epileptiform d... |
ORPHA:163681 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Dementia |
ORPHA:2596 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Abnormal QRS complex, Abnormality of blood circulation, Tachypnea, Tachycardia, Cyanos... |
ORPHA:860 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy |
ORPHA:26792 |
| Anaplastic Thyroid Carcinoma |
|
Neoplasm of the lung, Stridor, Cough, Upper airway obstruction, Respiratory distress, Dyspnea |
ORPHA:142 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
| Isolated Right Ventricular Hypoplasia |
|
Right ventricular failure, Hypoxemia, Systolic heart murmur, Bidirectional shunt, Tricuspid regur... |
ORPHA:439 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Cardiac conduction abnormality, Exertional dyspnea, Anomalous pulmonary veno... |
ORPHA:99105 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Mental deterioration, Respiratory distress, Memory impairment |
ORPHA:240103 |
| Avian Influenza |
|
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Con... |
ORPHA:454836 |
| Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... |
ORPHA:133 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Ataxia, EEG abnormality, Broad-based gait, Obesity |
ORPHA:411515 |
| Absence Of The Pulmonary Artery |
|
Hypocapnia, Reduced ejection fraction, Systolic heart murmur, Bronchiectasis, Atrial fibrillation... |
ORPHA:980 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Coffin-Siris Syndrome 8 |
|
Failure to thrive, Hyperactivity |
OMIM:618362 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Dementia, EEG with series of focal spikes, EEG with photoparoxysmal response, E... |
ORPHA:168491 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Tetrasomy 5P |
|
Pulmonary arterial hypertension, Respiratory distress, Cyanosis, Congestive heart failure, Recurr... |
ORPHA:3309 |
| Ciliary Dyskinesia, Primary, 2 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Respiratory distress, Immotile cilia, Recurrent re... |
OMIM:606763 |
| Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
| Diffuse Alveolar Hemorrhage |
|
Hypoxemia, Irregular septal thickening on pulmonary HRCT, Cough, Pulmonary venous hypertension, I... |
ORPHA:90060 |
| Chitayat Syndrome |
|
Respiratory distress, Abnormal pulmonary interstitial morphology, Tracheomalacia, Recurrent respi... |
OMIM:617180 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Cognitive impairment |
OMIM:237310 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Pulmonary arterial hypertension, Aortopulmonary window, Anomalous origin of ... |
ORPHA:99050 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Vitreous hemorrhage |
OMIM:612304 |
| Buerger Disease |
|
Acrocyanosis, Vasculitis |
ORPHA:36258 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Respiratory distress |
OMIM:618006 |
| Pulmonary Hypertension, Primary, 1 |
|
Pulmonary artery vasoconstriction, Right ventricular failure, Telangiectasia, Hypertension, Pulmo... |
OMIM:178600 |
| Lymphoid Interstitial Pneumonia |
|
Wheezing, Hypoxemia, Subpleural interstitial thickening, Crackles, Bronchiectasis, Cough, Raynaud... |
ORPHA:79128 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Respiratory insufficiency, Cou... |
ORPHA:183 |
| Congenital Fibrinogen Deficiency |
|
Gingival bleeding, Prolonged prothrombin time, Tachycardia, Subcutaneous hemorrhage, Cyanosis, Ab... |
ORPHA:335 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Neonatal respiratory distress, Respiratory distress, Death in infancy |
OMIM:615042 |
| Congenital Myasthenic Syndrome |
|
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... |
ORPHA:98914 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformation, Melena, Exertional dyspne... |
OMIM:187300 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Abnormal breath sound, Crackles, Cough, Abnormal pleura morphology, Pulmonary fibrosis, Restricti... |
ORPHA:210136 |
| Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... |
ORPHA:254864 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Obstructive sleep apnea, Crackles, Cough, Reticular pattern on pulmonary HRCT, Decreased DLCO, Pu... |
OMIM:614742 |
| Alpha-2-Plasmin Inhibitor Deficiency |
|
Hemothorax, Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility |
OMIM:262850 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
| Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Systolic heart murmur, Tachypnea, Tricuspid regurgitation, Cyanosis, Anomalous pulmona... |
ORPHA:555874 |
| Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Multiple pulm... |
ORPHA:723 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure, Respiratory distress, Dyspnea, Recurrent respiratory infections |
ORPHA:2759 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Mitral regurgitation, Tricuspid regurg... |
ORPHA:75249 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia |
OMIM:300983 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Cerebral hemorrhage, Ischemic stroke, Conjunctival telangiectasia, Spontaneous, recurrent epistax... |
OMIM:610655 |
| Double Outlet Right Ventricle |
|
Tachypnea, Tachycardia, Pulmonic stenosis, Cyanosis, Pulmonary artery atresia, Heart murmur |
ORPHA:3426 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Impaired pain sensation, Chorea, Hyperactivity, Inability to walk, EEG abnormality, Gai... |
ORPHA:500180 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Decreased body weight |
OMIM:618342 |
| Tularemia |
|
Pneumonia, Cough, Tachycardia, Respiratory distress, Pleural effusion |
ORPHA:3392 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis |
OMIM:250800 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Stridor, Respiratory insufficiency, Respiratory distress, Recurrent respiratory infections, Noctu... |
OMIM:211530 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Dilated cardiomyopathy, Respiratory insufficiency, Prolonged prothrombin time, Generalized abnorm... |
ORPHA:367 |
| Glycine Encephalopathy |
|
Hyperactivity, Lethargy |
OMIM:605899 |
| Aortic Arch Interruption |
|
Shock, Hypertension, Systolic heart murmur, Tachypnea, Aortic regurgitation, Aortopulmonary windo... |
ORPHA:2299 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformation, Melena, Transient ischemi... |
OMIM:600376 |
| Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
| Spinocerebellar Ataxia, X-Linked 3 |
|
Dementia, Death in infancy, Episodic respiratory distress, Episodic hypoventilation, Recurrent re... |
OMIM:301790 |
| Yellow Nail Syndrome |
|
Sinusitis, Neoplasm of the lung, Bronchiectasis, Rhinitis, Pulmonary arterial hypertension, Pleur... |
ORPHA:662 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity |
OMIM:248510 |
| Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Failure to thrive, Hyperactivity, Hypsarrhythmia, EEG with burst suppression |
OMIM:619239 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Mercury Poisoning |
|
Hypertension, Interstitial pneumonitis, Tachycardia, Respiratory distress, Respiratory failure, D... |
ORPHA:330021 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Progressive psychomotor deterioration, Cognitive impairment, Hyperactivity, Ataxia, Gait ataxia, ... |
ORPHA:363400 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Focal EEG discharges with secondary generalization, Shuffling gait, Hyperactivity, Broad-based ga... |
ORPHA:3077 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Hypoxemia, Pneumonia, Abnormal blood gas level, Pulmonary edema, Vasculitis, Respiratory f... |
ORPHA:70578 |
| Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
| Familial Dilated Cardiomyopathy |
|
Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, Palpitations, Reduced ejection... |
ORPHA:217607 |
| Ethylene Glycol Poisoning |
|
Shock, Hypertension, Episodic respiratory distress, Prolonged QT interval, Abnormal pattern of re... |
ORPHA:31826 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, EEG abnormality, Progressive language deterioration |
OMIM:610042 |
| Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough, Cardiomyopathy |
ORPHA:86812 |
| Sepsis In Premature Infants |
|
Abnormal respiratory system physiology, Petechiae, Tachycardia, Bradycardia, Jaundice, Cyanosis, ... |
ORPHA:90051 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Bradycardia, Cardiomyopathy, Cyanosis, Pulmonary edema, Congestive heart failure, Shortened PR in... |
OMIM:261740 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Cerebral hemorrhage, Purpura, Pulmonary embolism |
OMIM:614514 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Neonatal death, Pulmonary hypoplasia, Jaundice |
OMIM:231680 |
| Mental Retardation, Autosomal Recessive 61 |
|
Hyperactivity, EEG abnormality |
OMIM:617773 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Respiratory insufficiency, Respiratory insufficiency due to muscle w... |
ORPHA:308552 |
| Gaucher Disease, Perinatal Lethal |
|
Petechiae, Neonatal death, Apnea, Progressive neurologic deterioration, Respiratory distress, Pur... |
OMIM:608013 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
| Myoclonic-Astatic Epilepsy |
|
EEG with focal spike waves, Interictal epileptiform activity, EEG with generalized slow activity,... |
ORPHA:1942 |
| Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Cyanosis |
OMIM:252320 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Neonatal death, Death in infancy, Atelectasis |
OMIM:300219 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Ataxia, Choreoathetosis |
OMIM:612716 |
| Fraxe Intellectual Disability |
|
Hyperactivity |
ORPHA:100973 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia |
OMIM:184260 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait |
OMIM:619470 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity |
OMIM:300434 |
| Cocaine Intoxication |
|
Wheezing, Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachy... |
ORPHA:90068 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema |
OMIM:178400 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Broad-based gait, Failure to thrive |
OMIM:617865 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Prolonged QT interval, Pneumonia, Tachypnea, Atrioventricular block, Vent... |
ORPHA:26793 |
| Scimitar Syndrome |
|
Left-to-right shunt, Bronchogenic cyst, Pneumothorax, Pulmonary sequestration, Pulmonary arterial... |
ORPHA:185 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Dilated cardiomyopathy, Pulmonary insufficiency, Mitral regurgitation, Aortic regurgitation, Pulm... |
ORPHA:2326 |
| Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity |
OMIM:616977 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia, Heart murmur |
ORPHA:1867 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Cognitive impairment, Cerebral ischemia |
ORPHA:927 |
| Eisenmenger Syndrome |
|
Wheezing, Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Exerti... |
ORPHA:97214 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, EEG abnormality |
OMIM:618718 |
| Congenital Tracheal Stenosis |
|
Wheezing, Pulmonary artery atresia, Abnormal lung lobation, Upper airway obstruction, Respiratory... |
ORPHA:141127 |
| Infantile Neuroaxonal Dystrophy |
|
Gait disturbance, Dystonia, Abnormality of peripheral nerve conduction, Hyperactivity, Ataxia, Ps... |
ORPHA:35069 |
| Synaptic Congenital Myasthenic Syndromes |
|
Neonatal respiratory distress, Respiratory insufficiency, Pulmonary arterial hypertension, Recurr... |
ORPHA:98915 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Interlobular septal thickening, Exertional dyspnea, Dyspnea, Intraalve... |
OMIM:614370 |
| Hughes-Stovin Syndrome |
|
Pulmonary artery aneurysm, Pulmonary arterial hypertension, Cough, Vasculitis, Cardiorespiratory ... |
ORPHA:228116 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Respiratory distress, Pulmonary hypoplasia |
OMIM:617895 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Sudden episodic apnea, Respiratory insufficiency, Ventricular tachycardia, Cardiomyopathy, Cyanos... |
ORPHA:159 |
| Criss-Cross Heart |
|
Respiratory insufficiency, Tricuspid stenosis, Supravalvular aortic stenosis, Mitral stenosis, Pu... |
ORPHA:1461 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity |
OMIM:615541 |
| Xq25 Microduplication Syndrome |
|
Hyperactivity |
ORPHA:521258 |
| Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity |
OMIM:300979 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Telangiectasia, Respiratory distress |
OMIM:608799 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
| Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Dementia, Intracranial hemorrhage, Angioedema, Cough, Raynaud phenomenon,... |
ORPHA:3260 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Arrhythmia |
ORPHA:1345 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis |
ORPHA:745 |
| Hereditary Methemoglobinemia |
|
Exertional dyspnea, Cyanosis |
ORPHA:621 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, EEG abnormality |
OMIM:271980 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
| Cardiogenic Shock |
|
Right ventricular failure, Hypoxemia, Crackles, Mitral regurgitation, Low pulse pressure, Elevate... |
ORPHA:97292 |
| Hemorrhagic Fever-Renal Syndrome |
|
Petechiae, Melena, Pulmonary edema, Respiratory failure, Capillary leak, Ecchymosis, Hypertension... |
ORPHA:340 |
| Clark-Baraitser Syndrome |
|
Hyperactivity, Obesity |
OMIM:617752 |
| Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Acrocyanosis, Intern... |
ORPHA:49566 |
| Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
| Klippel-Trénaunay Syndrome |
|
Respiratory insufficiency, Gastrointestinal hemorrhage, Abnormality of the pulmonary artery, Prol... |
ORPHA:90308 |
| Craniofaciofrontodigital Syndrome |
|
Palmoplantar cutis laxa, Mitral regurgitation, Pulmonary arterial hypertension, Respiratory distr... |
ORPHA:363705 |
| Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Atrioventricular Septal Defect 3 |
|
Hypertension, Pulmonary arterial hypertension, Cyanosis, Congestive heart failure, First degree a... |
OMIM:600309 |
| Ck Syndrome |
|
Hyperactivity, Slender build |
ORPHA:251383 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... |
ORPHA:217563 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Respiratory insufficiency, Left ventricular outflow tract obstructio... |
ORPHA:365 |
| Histiocytoid Cardiomyopathy |
|
Atrial fibrillation, Tachypnea, Atrioventricular block, Ventricular tachycardia, Supraventricular... |
ORPHA:137675 |
| Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
| Leigh Syndrome With Cardiomyopathy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardiac conduction abn... |
ORPHA:70474 |
| Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity, Truncal obesity |
OMIM:613192 |
| Goodpasture Syndrome |
|
Hemosiderin-laden macrophages in bronchoalveolar fluid, Bloody bronchoalveolar lavage fluid, Crac... |
OMIM:233450 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Prolonged neonatal jaundice, Respiratory distress, Bradycardia |
ORPHA:226313 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension |
ORPHA:247257 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Pulmonary edema |
OMIM:617300 |
| Ck Syndrome |
|
Hyperactivity, Slender build |
OMIM:300831 |
| Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Myocarditis, Ecchymosis, Shock, Pneumonia, Tachypnea, Tachycardia, Respiratory distres... |
ORPHA:36234 |
| Brain-Lung-Thyroid Syndrome |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Respiratory distress, Abnormal pu... |
ORPHA:209905 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
| Multiple Carboxylase Deficiency |
|
Tachypnea, Respiratory distress |
ORPHA:148 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Chorea, Hyperactivity, Ataxia |
ORPHA:382 |
| Fixed Subaortic Stenosis |
|
Syncope, Mitral regurgitation, Systolic heart murmur, Palpitations, Aortic regurgitation, Pulmoni... |
ORPHA:3092 |
| Myotonic Dystrophy 1 |
|
First degree atrioventricular block, Respiratory distress, Atrial flutter, Atrial fibrillation |
OMIM:160900 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Failure to thrive, Hyperactivity |
OMIM:615286 |
| X-Linked Adrenoleukodystrophy |
|
Gait disturbance, Dementia, Cognitive impairment, Hyperactivity, Attention deficit hyperactivity ... |
ORPHA:43 |
| Arnold-Chiari Malformation Type Ii |
|
Cyanosis, Apnea, Pneumonia, Inspiratory stridor |
ORPHA:1136 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypertrophic cardiomyopathy, Recurrent bronchopulmonary infections, Respiratory distress, Recurre... |
OMIM:617303 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Cardiomyopathy |
ORPHA:79312 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:391428 |
| Congenital Enterovirus Infection |
|
Myocarditis, Cardiomyopathy, Respiratory distress, Abnormal bleeding, Pleural effusion, Hypotension |
ORPHA:292 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Ecchymosis, Shock, Crackles, Rhinitis, Subconjunctival hemorrhage, Bradycardia, Exce... |
ORPHA:319213 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Chorea, Progressive cerebellar ataxia, Hyperactivity, EEG with focal spikes, Unsteady gait |
ORPHA:485350 |
| Dermatomyositis |
|
Myocarditis, Pericarditis, Respiratory insufficiency, Cutaneous photosensitivity, Lung adenocarci... |
ORPHA:221 |
| Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor |
OMIM:207950 |
| Esophageal Atresia |
|
Chronic pulmonary obstruction, Episodic respiratory distress, Laryngotracheomalacia, Respiratory ... |
ORPHA:1199 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Acrocyanosis, Urticaria, Gastrointestinal hemorrhage, Vasculitis, Purpura |
ORPHA:343 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
| Tetanus |
|
Hypertension, Tachypnea, Bradycardia, Tachycardia, Respiratory distress |
ORPHA:3299 |
| Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Pulmonary artery ... |
ORPHA:3342 |
| X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Cachexia, Chorea, Hyperactivity, Ataxia |
ORPHA:52503 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Right ventricular failure, Apneic episodes in infancy, Paroxysmal dyspnea, Mixed total anomalous ... |
ORPHA:99125 |
| Phenylketonuria |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:261600 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Obesity |
OMIM:301013 |
| Q Fever |
|
Myocarditis, Pericarditis, Pneumonia, Cough, Respiratory distress, Abnormal pulmonary interstitia... |
ORPHA:781 |
| Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Failure to thrive in infancy, Small for gestational age, Hyperactivity, Ataxia |
OMIM:614104 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress |
OMIM:618426 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Decreased body weight, Broad-based gait |
OMIM:300958 |
| Cryptococcosis |
|
Pneumonia, Cough, Respiratory distress, Nodular pattern on pulmonary HRCT, Dyspnea, Mental deteri... |
ORPHA:1546 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Apneic episodes in infancy, Tachycardia, Episodic tachypnea, Respiratory distress, Dyspnea, Inter... |
ORPHA:348 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Dysmetria, Chorea, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Mental deterioratio... |
OMIM:610217 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Obesity |
ORPHA:397973 |
| Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:608022 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss |
OMIM:275000 |
| Spastic Paraplegia Type 2 |
|
Recurrent respiratory infections, Pulmonary embolism |
ORPHA:99015 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
| Dravet Syndrome |
|
Cognitive impairment, Cyanotic episode |
ORPHA:33069 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hypertrophic cardiomyopathy, Respiratory distress, Recurrent respiratory infections |
OMIM:619383 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Purpura, Pulmonary embolism, Subcutaneous hemorrhage |
ORPHA:743 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress |
ORPHA:89844 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections |
ORPHA:329178 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Dementia |
ORPHA:98805 |
| Potocki-Lupski Syndrome |
|
Failure to thrive, Hyperactivity, EEG abnormality, Small for gestational age |
OMIM:610883 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Atrioventricular block, Bradycardia |
OMIM:614407 |
| Truncus Arteriosus |
|
Abnormal lung lobation, Tachypnea, Aortic regurgitation, Pulmonary artery hypoplasia, Tachycardia... |
ORPHA:3384 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Infantile Krabbe Disease |
|
Psychomotor deterioration, Progressive neurologic deterioration, Respiratory distress, Abnormal h... |
ORPHA:206436 |
| Toxic Epidermal Necrolysis |
|
Erythema, Cough, Respiratory distress, Gastrointestinal hemorrhage, Abnormal pleura morphology, R... |
ORPHA:537 |
| Renal Dysplasia-Limb Defects Syndrome |
|
Pneumothorax, Neonatal death, Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:266910 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Degeneration of anterior horn cells |
OMIM:271225 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Antenatal intracerebral hemorrhage, Respiratory insufficiency, Apnea, Res... |
OMIM:608836 |
| Japanese Encephalitis |
|
Abnormal pattern of respiration, Cognitive impairment, Respiratory paralysis, Respiratory distres... |
ORPHA:79139 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Tracheomalacia, Atelectasis |
ORPHA:896 |
| Intellectual Disability, Birk-Barel Type |
|
Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscles |
ORPHA:166108 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Myocardial infarction, Respiratory distress, Transient ischemic attack, Prolonged neonatal jaundi... |
OMIM:274150 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Failure to thrive, Hyperactivity |
ORPHA:369939 |
| Polycythemia Vera |
|
Hypertension, Respiratory insufficiency, Gingival bleeding, Budd-Chiari syndrome, Epistaxis, Inte... |
ORPHA:729 |
| Cirrhotic Cardiomyopathy |
|
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... |
ORPHA:57777 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress |
ORPHA:544503 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Cyanosis, Death in infancy, Partial anomalous pulmonary venous return |
OMIM:617478 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Syncope, Palpitations, Pulmonary arterial hypertension, Tricuspid regurgitation, Elevated pulmona... |
ORPHA:275766 |
| Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Pulmonary arterial hypertension, Acrocyanosis, ... |
ORPHA:2905 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Ataxia, Hyperactivity, EEG abnormality, Broad-based gait, EEG with abnormally slo... |
ORPHA:98794 |
| Radio-Renal Syndrome |
|
Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylothorax |
ORPHA:3015 |
| Smith-Magenis Syndrome |
|
Hyperactivity, EEG abnormality, Increased body weight, Impaired pain sensation |
OMIM:182290 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait |
ORPHA:457260 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia |
OMIM:202650 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Respiratory distress |
ORPHA:79242 |
| Pulmonary Hypertension, Primary, 3 |
|
Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary... |
OMIM:615343 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Dementia, Subdural hemorrhage, Pulmonary arterial hypertension, Respirato... |
ORPHA:79282 |
| Nasolacrimal Duct Cyst |
|
Abnormal breath sound, Paroxysmal dyspnea, Stridor, Episodic respiratory distress, Intercostal re... |
ORPHA:141083 |
| Hereditary Angioedema Type 1 |
|
Dermatographic urticaria, Respiratory distress, Urticaria, Dyspnea, Hypotension, Inspiratory stridor |
ORPHA:100050 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Mental deterioration, Diff... |
ORPHA:139396 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea |
OMIM:619580 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Failure to thrive, Truncal obesity, Hyperactivity, Attention deficit h... |
ORPHA:73272 |
| Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Erythema, Cardiomyopathy, Acrocyanosis, Vasculitis, Purpura, Prolonged neonatal jaundice |
OMIM:225750 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Tachycardia, Acrocyanosis, Decreased sensitivity to hypoxe... |
OMIM:223900 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:2707 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Pulmonic stenosis |
ORPHA:3304 |
| Unilateral Polymicrogyria |
|
Cyanosis, Epistaxis, Apnea, Pulmonary arteriovenous malformation |
ORPHA:268943 |
| Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypertrophic cardiomyopathy, Stridor, Mitral regurgitation, Pulmonary arterial hypertension, Tach... |
ORPHA:505248 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae |
OMIM:602473 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Cognitive impairment, Ataxia |
OMIM:601853 |
| Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Dementia, Pulmonary arterial hypertension, Arterial occlusion, Myocardial infarction... |
ORPHA:464343 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity |
OMIM:615516 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Pulmonary fibrosis |
OMIM:612852 |
| 13Q12.3 Microdeletion Syndrome |
|
Failure to thrive, Hyperactivity, Obesity, Impaired pain sensation |
ORPHA:412035 |
| Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
| Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Cardiac conduction abnormality, Apnea, Progressive neurologic deterioration, Car... |
ORPHA:2131 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Myasthenia Gravis |
|
Acrocyanosis, Dyspnea, Raynaud phenomenon |
ORPHA:589 |
| Nocardiosis |
|
Productive cough, Pericarditis, Pneumonia, Pneumothorax, Pleuritis, Respiratory distress, Nonprod... |
ORPHA:31204 |
| Rare Circulatory System Disease |
|
Cyanosis, Intermittent claudication |
ORPHA:98028 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy, Exertional dyspnea, Respiratory insufficiency due to muscle weakness... |
OMIM:220110 |
| Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
| Farber Disease |
|
Respiratory insufficiency, Respiratory distress, Recurrent upper respiratory tract infections, No... |
ORPHA:333 |
| Hereditary Hemorrhagic Telangiectasia |
|
Cerebral hemorrhage, Epistaxis, Pulmonary arterial hypertension, Conjunctival telangiectasia, Tel... |
ORPHA:774 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
| Mogs-Cdg |
|
Pulmonary edema, Respiratory distress, Apnea, Hypoventilation |
ORPHA:79330 |
| Familial Dysautonomia |
|
Hypertension, Orthostatic hypotension, Tachycardia, Acrocyanosis, Abnormal pleura morphology, Rec... |
ORPHA:1764 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Progressive neurologic deterioration |
OMIM:252920 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Syncope, Abnormal T-wave, Palpitations, Reduced FEV1/FVC ratio, Pulmon... |
ORPHA:70591 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Obesity |
OMIM:600430 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Death in infancy, Respirator... |
OMIM:252010 |
| Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
| Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring |
OMIM:268320 |
| Myopathy With Extrapyramidal Signs |
|
Dystonia, Choreoathetosis, Chorea, Hyperactivity, Ataxia, Difficulty walking |
OMIM:615673 |
| Tarp Syndrome |
|
Cyanosis, Apnea, Pulmonary hypoplasia |
ORPHA:2886 |
| Angelman Syndrome |
|
Progressive gait ataxia, Hyperactivity, EEG abnormality, Broad-based gait, Obesity |
OMIM:105830 |
| Coccidioidomycosis |
|
Pericarditis, Pneumonia, Cognitive impairment, Vasospasm, Cough, Cerebral ischemia, Pleural empye... |
ORPHA:228123 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abnormal left ventricular ... |
ORPHA:99827 |
| Colchicine Poisoning |
|
Myocarditis, Cardiogenic shock, Respiratory distress, Cardiorespiratory arrest, Congestive heart ... |
ORPHA:31824 |
| Oculopharyngodistal Myopathy 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Hypercapnia,... |
OMIM:164310 |
| Leptospirosis |
|
Pericarditis, Subconjunctival hemorrhage, Pulmonary hemorrhage, Cough, Jaundice, Respiratory dist... |
ORPHA:509 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Obesity |
OMIM:614613 |
| Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia |
OMIM:156550 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... |
ORPHA:216694 |
| Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Tracheomalacia, Neonatal respiratory distress, Cardiomyopathy |
OMIM:217980 |
| Mgat2-Cdg |
|
Recurrent upper and lower respiratory tract infections, Reflex asystolic syncope, Respiratory dis... |
ORPHA:79329 |
| Hutchinson-Gilford Progeria Syndrome |
|
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Aortic regurgitation, Pulmonary arte... |
ORPHA:740 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Total anomalous pulmonary venous return, Cyanosis, Pulmonary artery hypoplasia, Pulmonary artery ... |
OMIM:616749 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
| Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Motor deterioration |
OMIM:252930 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity |
OMIM:615824 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Tricuspid regurgitation |
OMIM:612863 |
| Postinfectious Vasculitis |
|
Hypertension, Pneumonia, Palpable purpura, Vasculitis in the skin, Raynaud phenomenon, Cardiomyop... |
ORPHA:48435 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity |
OMIM:300143 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Obstructive sleep apnea, Recurrent lower respiratory tract infections, Central hypoventilation, R... |
ORPHA:293987 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:300968 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Respiratory insufficiency, Pulmonary hypoplasia, Repeated pneumothoraces... |
ORPHA:536467 |
| Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
| Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
| Pulmonary Hypertension, Primary, 4 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... |
OMIM:615344 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Gait disturbance, Dementia, Dystonia, Choreoathetosis, Bradykinesia, Hyperactivity, Ataxia, Akine... |
OMIM:234200 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Obesity |
OMIM:618430 |
| Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Small for gestational age |
OMIM:609152 |
| Listeriosis |
|
Myocarditis, Pericarditis, Pneumonia, Respiratory distress, Arteritis, Congestive heart failure, ... |
ORPHA:533 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hypertension, Palmoplantar cutis laxa |
OMIM:123790 |
| Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital |
|
Neonatal respiratory distress, Respiratory acidosis, Erythema, Respiratory distress, Abnormal pul... |
OMIM:614748 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Respiratory tract infection, Pulmonary embolism |
ORPHA:567548 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity |
ORPHA:101039 |
| Citrullinemia Type Ii |
|
Hyperactivity, Decreased body mass index, Memory impairment, Lethargy |
ORPHA:247585 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Cachexia, Hyperactivity, EEG abnormality, Broad-based gait, Obesity |
ORPHA:85293 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia |
ORPHA:530983 |
| Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress |
ORPHA:50810 |
| Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism |
ORPHA:624 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Pneumonia, Budd-Chiari syndrome |
OMIM:226300 |
| Tuberous Sclerosis Complex |
|
Hypertension, Generalized abnormality of skin, Respiratory distress, Respiratory tract infection,... |
ORPHA:805 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Interstitial pneumonitis, Pneumonia, Urticaria, Respiratory distress, Recurrent respiratory infec... |
ORPHA:37042 |
| Hyperoxaluria, Primary, Type I |
|
Atrioventricular block, Arterial occlusion, Raynaud phenomenon, Intermittent claudication, Acrocy... |
OMIM:259900 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Stridor, Pneumonia, Pneumothorax, Bradycardia, Respiratory distress, Frag... |
ORPHA:79404 |
| Campomelic Dysplasia |
|
Respiratory distress, Apnea, Tracheobronchomalacia |
OMIM:114290 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cyanosis, Pulmonic stenosis |
OMIM:306955 |
| Auriculocondylar Syndrome |
|
Respiratory distress, Snoring, Obstructive sleep apnea |
ORPHA:137888 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Failure to thrive, Shuffling gait, Hyperactivity, Decreased body weight, Pain insensitivity |
OMIM:300534 |
| 16P12.1P12.3 Triplication Syndrome |
|
Failure to thrive, Hyperactivity, Attention deficit hyperactivity disorder |
ORPHA:485405 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Hypertension |
ORPHA:1555 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis |
ORPHA:210122 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hyperactivity, Gait disturbance, Large for gestational age |
ORPHA:457485 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypertension, Respiratory tract infection, Pulmonary embolism, Dyspnea, Pleural effusion |
ORPHA:567546 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Restrictive ventilatory defect, Respiratory distress |
OMIM:183900 |
| Early Infantile Epileptic Encephalopathy |
|
Dystonia, Choreoathetosis, Failure to thrive, Hypsarrhythmia, EEG with burst suppression, Hyperac... |
ORPHA:1934 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Weight loss, Small for gestational age |
ORPHA:424 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypertrophic cardiomyopathy, Respiratory distress, Recurrent respiratory infections, Apnea |
ORPHA:17 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... |
ORPHA:75565 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Central sleep apnea |
OMIM:615273 |
| Primary Hyperoxaluria |
|
Cardiomyopathy, Heart block, Arterial occlusion, Raynaud phenomenon, Intermittent claudication, C... |
ORPHA:416 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Ecchymosis, Bruising susceptibility, Pneumothorax, Arterial rupture, Pulmonary bulla, Recurrent i... |
OMIM:130050 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Impaired vibratory sensation |
OMIM:609727 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
| Angelman Syndrome |
|
Hyperactivity, Inability to walk, Ataxia, EEG abnormality, Broad-based gait, Obesity |
ORPHA:72 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Episodic respiratory distress, Cardiac condu... |
ORPHA:255210 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
| Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hyperactivity |
OMIM:618314 |
| Legius Syndrome |
|
Attention deficit hyperactivity disorder, Dystonia, Cognitive impairment, Hyperactivity |
ORPHA:137605 |
| Adenylosuccinase Deficiency |
|
Hyperactivity, Inability to walk, Gait ataxia |
OMIM:103050 |
| Kasabach-Merritt Syndrome |
|
Petechiae, Hypopnea, Prolonged prothrombin time, Respiratory distress, Purpura |
ORPHA:2330 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections |
ORPHA:177907 |
| Hyperlysinemia |
|
Dysmetria, Failure to thrive, Hyperactivity, Tip-toe gait, EEG with spike-wave complexes |
ORPHA:2203 |
| Pitt-Hopkins Syndrome |
|
Acrocyanosis, Abnormal pattern of respiration, Hyperventilation, Sleep apnea |
ORPHA:2896 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity |
ORPHA:85327 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:260400 |
| Adnp Syndrome |
|
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections |
ORPHA:404448 |
| Fucosidosis |
|
