Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Desquamative interstitial pneumonitis, Respiratory distress, Failure to thrive, Cough, ... |
OMIM:263000 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par... |
OMIM:610921 |
Bronchopulmonary Dysplasia |
|
Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Small for gestational age, Abnormal ... |
ORPHA:70589 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Cyanosis, Intraalveolar phospholipid accumulation, Desquamative ... |
OMIM:265120 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Weight loss, Respiratory distress, Upper airway obstruction, Dyspnea |
ORPHA:141152 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress, Umbilical hernia, Death in infancy |
OMIM:254120 |
Cryptogenic Organizing Pneumonia |
|
Cyanosis, Pneumothorax, Weight loss, Neutrophilia, Hypoxemia, Respiratory distress, Crackles, Res... |
ORPHA:1302 |
Pleural Mesothelioma |
|
Abnormal pleura morphology, Weight loss, Abnormal respiratory system physiology, Respiratory dist... |
ORPHA:50251 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Cyanosis, Bronchiectasis, Desquamative interstitial pneumonitis, Decre... |
OMIM:610913 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Asbestos Intoxication |
|
Cyanosis, Abnormal pulmonary interstitial morphology, Exertional dyspnea, Late inspiratory crackl... |
ORPHA:2302 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Thromboc... |
OMIM:619751 |
Immunodeficiency 95 |
|
Respiratory distress, Lymphopenia, Respiratory failure, Recurrent viral upper respiratory tract i... |
OMIM:619773 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Pulmonary hypoplasia, Apnea, Fa... |
ORPHA:2257 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Cyanotic episode, Death in infancy |
OMIM:610992 |
Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Death in childhood, Acrocyanosis |
OMIM:302000 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Cyanosis, Respiratory distress, Chronic pulmonary obstruction, P... |
ORPHA:2414 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Apnea, Central Sleep |
|
Irregular respiration, Cyanosis, Sleep apnea, Abnormal pattern of respiration |
OMIM:207720 |
Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Failure to thrive, Upper ai... |
ORPHA:60032 |
Perching Syndrome |
|
Cyanosis, Respiratory distress |
OMIM:617055 |
Acute Interstitial Pneumonia |
|
Cyanosis, Reduced hematocrit, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honey... |
ORPHA:79126 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia |
OMIM:613977 |
Methemoglobinemia, Beta Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617973 |
Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Short stature, Obesity, Respiratory distress, Bronchiolitis |
OMIM:615993 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Failure to thrive, Respiratory distress |
ORPHA:91130 |
Chronic Pneumonitis Of Infancy |
|
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... |
ORPHA:91359 |
Laryngotracheal Angioma |
|
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing |
ORPHA:137935 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... |
ORPHA:264675 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough, Hepatomegaly, Recurrent respiratory... |
ORPHA:77260 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Failure to thrive, Intrauterine growth retardation, Respiratory distress |
ORPHA:26792 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, L... |
OMIM:610910 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai... |
ORPHA:70587 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Dyspnea, Intrauterine growth retardation, Respiratory distress |
ORPHA:1832 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Weight loss, Honeycomb lung, Hyp... |
ORPHA:79127 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Pulmonary hypoplasia, Respiratory distress, Intrauterine growth retard... |
OMIM:616733 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE... |
ORPHA:1303 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis, Short stature |
ORPHA:2901 |
Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr... |
ORPHA:70588 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Failure to thrive, Thrombocytopenia, Death in childhood, Intrauterine growt... |
OMIM:615597 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Cirrhosis, Elevated bronchoalveolar lavage fluid neutrophil prop... |
OMIM:178500 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Gro... |
OMIM:613561 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Splenomegaly, Chronic bronchitis, Bronchiectasis, Hepatocellular carcinoma, Chronic pu... |
OMIM:613490 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Failure to thrive, Severe short stature, Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Decreased body weight, Respiratory distress, Short stature, Respiratory insufficiency due to musc... |
OMIM:300580 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Elevated circulating alanine aminotransferase concentration, Death in infancy, Respiratory distre... |
OMIM:616974 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... |
ORPHA:140896 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... |
OMIM:267450 |
Laryngotracheoesophageal Cleft |
|
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress, Recurrent respirato... |
ORPHA:2004 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Bronchiectasis, Weight loss, Respiratory distress, Chronic pulmonary obstruction, P... |
ORPHA:411703 |
Immunoneurologic Disorder, X-Linked |
|
Small for gestational age, Neonatal death |
OMIM:300076 |
Slc35A1-Cdg |
|
Pulmonary hemorrhage, Neutropenia, Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Abno... |
ORPHA:238459 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Intraalveolar phospholipid accumulation, Weight loss, Hypoxemia, Crackles, Restrictive ... |
ORPHA:747 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory distress, Tachypn... |
ORPHA:36238 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Abnormal erythrocyte morphology, Central apnea |
ORPHA:71277 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death |
OMIM:301021 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Bronchiectasis, Productive cough, Cachexia, Abnormal respiratory sys... |
ORPHA:60033 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Cyanosis, Exertional dyspnea, Methemoglobinemia |
ORPHA:621 |
Acute Lung Injury |
|
Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distress, Diffuse alveolar hem... |
ORPHA:178320 |
Avian Influenza |
|
Leukopenia, Pneumothorax, Productive cough, Hepatitis, Hypoxemia, Respiratory distress, Elevated ... |
ORPHA:454836 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Respiratory distress, Failure to thrive, Restrictive ventilatory defec... |
OMIM:614399 |
Stt3B-Cdg |
|
Failure to thrive, Thrombocytopenia, Intrauterine growth retardation, Respiratory distress |
ORPHA:370924 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Asthma, Hypoxemia, Respiratory distr... |
OMIM:610978 |
Pulmonary Alveolar Microlithiasis |
|
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Oxygen desaturation on exertio... |
ORPHA:60025 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Nodular regenerative hyperplasia of liver, Abnormal pleura morphology, Abnormal breath sound, Ele... |
ORPHA:210136 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Cirrhosis, Anemia, Myeloid leukemia, Premature graying of hair, Pancytopenia, Usual interstitial ... |
OMIM:614742 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... |
ORPHA:254875 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... |
OMIM:254210 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea, Polycythemia, Growth delay, Methemoglobinemia |
OMIM:250800 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Small for gestational age, Hypoxemia, Anomalous pulmonary venous return, Hepatomegaly, ... |
ORPHA:555874 |
Congenital Tracheomalacia |
|
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy... |
ORPHA:95430 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... |
OMIM:605809 |
Breath-Holding Spells |
|
Cyanosis, Iron deficiency anemia |
OMIM:607578 |
Chronic Beryllium Disease |
|
Respiratory insufficiency, Weight loss, Abnormal proportion of CD4-positive T cells, Abnormal res... |
ORPHA:133 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Respiratory distress |
ORPHA:238329 |
Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... |
ORPHA:922 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Pulmonary edema, Hy... |
ORPHA:199241 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Abnormality of the liver, Ventilator dependence with inability to wean, Respiratory distress, Hep... |
ORPHA:254864 |
Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Hemolytic anemia, Death in infancy, Normocytic anemia, Jaundice, Respi... |
OMIM:615512 |
Restrictive Dermopathy 2 |
|
Cyanosis, Intrauterine growth retardation, Respiratory distress |
OMIM:619793 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation, Obesity |
OMIM:257500 |
Sepsis In Premature Infants |
|
Cyanosis, Anemia, Decreased body weight, Petechiae, Small for gestational age, Nasal flaring, Jau... |
ORPHA:90051 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Respiratory distress, Upper airway obstruction, Dyspnea, Cough, Stridor, Neoplasm of... |
ORPHA:142 |
Interstitial Lung Disease 1 |
|
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... |
OMIM:619611 |
Malaria |
|
Anemia, Thrombocytopenia, Respiratory distress |
ORPHA:673 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Failure to thrive, Neonatal death, Death in infancy |
OMIM:242500 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Respiratory distress, Failure to thrive, Hepatomegaly, Thrombocytopenia, Ne... |
ORPHA:79312 |
Gaucher Disease, Perinatal Lethal |
|
Splenomegaly, Hepatic failure, Decreased body weight, Anemia, Petechiae, Purpura, Respiratory dis... |
OMIM:608013 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Failure to thrive, Respiratory distress |
OMIM:300934 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Cyanosis, Pulmonary hemorrhage, Telangiectasia, Hemothorax, Pleu... |
ORPHA:2038 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Respiratory distress, Weight loss |
OMIM:612075 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Exertional dyspnea, Restrictive ventilatory defect, Orthopnea, Reduced vital capacity, ... |
ORPHA:98913 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Failure to thrive, Intrauterine growth retardation, Respiratory distress |
ORPHA:261304 |
Choanal Atresia |
|
Cyanosis, Abnormal nasal mucus secretion, Respiratory distress, Chronic sinusitis, Upper airway o... |
ORPHA:137914 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Weight loss, Asthma, Hypoxemia, Pleural effusion, Crackles, Restrictive ventil... |
ORPHA:2902 |
Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
Acquired Methemoglobinemia |
|
Cyanosis, Hypoxemia, Respiratory distress, Dyspnea, Methemoglobinemia |
ORPHA:464453 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Respiratory distress, Growth delay, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreat... |
ORPHA:289916 |
Pneumocystosis |
|
Respiratory insufficiency, Exertional dyspnea, Weight loss, Interstitial pneumonitis, Hypoxemia, ... |
ORPHA:723 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Neonatal death, Death in infancy |
OMIM:617184 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death |
OMIM:619602 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... |
OMIM:612387 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory insufficiency, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Respiratory... |
ORPHA:367 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Increased... |
OMIM:261680 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Neonatal respiratory distress, Elevated hepatic transaminase, Respiratory distress, Death in infancy |
OMIM:615042 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode, Failure to thrive in infancy, Intrauterine growth retardation |
ORPHA:284417 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia, Hypoxemia, Respiratory distress |
ORPHA:2140 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Failure to thrive, Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Tricuspid Atresia |
|
Cyanosis, Pulmonary artery atresia |
ORPHA:1209 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Hepatomegaly |
OMIM:614741 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Neonatal death |
OMIM:615228 |
X-Linked Centronuclear Myopathy |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress, Recurrent re... |
ORPHA:596 |
Tetrasomy 5P |
|
Pulmonary arterial hypertension, Cyanosis, Pulmonary hypoplasia, Respiratory distress, Failure to... |
ORPHA:3309 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Small for gestational age, Hypoxemia, Failure to thrive, Anomalous pulmonary venous ret... |
ORPHA:860 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Telangiectasia, Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Hepatomeg... |
OMIM:608799 |
Chitayat Syndrome |
|
Abnormal pulmonary interstitial morphology, Short stature, Respiratory distress, Tracheomalacia, ... |
OMIM:617180 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis, Death in infancy, Respiratory distress, Apnea, Failure to thrive, Hypopnea, Neonatal re... |
OMIM:618426 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction, Erythema, Angioedema, Urticaria |
ORPHA:100057 |
Interstitial Lung And Liver Disease |
|
Respiratory insufficiency, Hepatic fibrosis, Elevated circulating alanine aminotransferase concen... |
OMIM:615486 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Intrauterine growth retardation, Respiratory distress |
ORPHA:89844 |
Laryngomalacia |
|
Congenital laryngeal stridor, Respiratory distress |
OMIM:150280 |
Tularemia |
|
Anemia, Respiratory distress, Pleural effusion, Cough, Leukocytosis, Thrombocytopenia, Pneumonia |
ORPHA:3392 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death |
OMIM:612138 |
Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Cyanosis, Intercostal retractions, Crackles, Recurrent pneumo... |
ORPHA:1329 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in childhood, Death in infancy |
OMIM:614096 |
N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Respiratory distress |
OMIM:237310 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Cirrhosis, Hepatic failure, Microvesicular hepatic steatosis, Death in infancy, Jaundice, Elevate... |
OMIM:617156 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Re... |
OMIM:615595 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Paradoxical respiration, Respiratory distress, Recurrent acute respiratory tract infection |
OMIM:620011 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... |
ORPHA:98914 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Anemia, Exertional dyspnea, Decreased liver function, Respiratory distress, Failure to thrive, He... |
OMIM:220110 |
Auriculocondylar Syndrome 2 |
|
Apnea, Snoring, Respiratory distress |
OMIM:614669 |
Carnitine Deficiency, Systemic Primary |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Re... |
OMIM:212140 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Death in infancy, Respiratory distress, Hepatomegaly, Respiratory fail... |
OMIM:614299 |
Congenital Laryngeal Web |
|
Short stature, Respiratory distress, Stridor |
ORPHA:2374 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
Nipah Virus Disease |
|
Cough, Respiratory distress, Recurrent pharyngitis |
ORPHA:99825 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Short stature, Small for gestational age, Exocrine pancreatic ins... |
OMIM:260400 |
Idiopathic Neonatal Atrial Flutter |
|
Large for gestational age, Respiratory distress, Tachypnea |
ORPHA:45452 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Jaundice, Respiratory distress, Pulmonary hypoplasia, Hepatic steatosis, Hepatomegaly, Neonatal d... |
OMIM:231680 |
Q Fever |
|
Anemia, Abnormal pulmonary interstitial morphology, Abnormality of the liver, Weight loss, Hepati... |
ORPHA:781 |
Holocarboxylase Synthetase Deficiency |
|
Weight loss, Respiratory distress, Growth delay, Thrombocytopenia, Tachypnea |
ORPHA:79242 |
Ciliary Dyskinesia, Primary, 2 |
|
Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Recurrent respiratory infections... |
OMIM:606763 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Prolonged neonatal jaundice, Respiratory distress, Umbilical hernia |
ORPHA:226313 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death |
OMIM:601612 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
Odontochondrodysplasia 1 |
|
Short stature, Death in infancy, Pulmonary hypoplasia, Respiratory distress, Mesomelic short stat... |
OMIM:184260 |
Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
Farber Disease |
|
Respiratory insufficiency, Hepatic fibrosis, Hepatic failure, Anemia, Nodular pattern on pulmonar... |
ORPHA:333 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Episodic tachypnea, Small for gestational age, Jaundice, Elevated hepatic transaminase, Respirato... |
ORPHA:26793 |
Double Outlet Right Ventricle |
|
Cyanosis, Short stature, Failure to thrive, Pulmonary artery atresia, Tachypnea |
ORPHA:3426 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death |
OMIM:614870 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Respiratory distress, Atelectasis, Death in infancy |
OMIM:300219 |
Chiari Malformation Type Ii |
|
Cyanosis, Myelomeningocele, Spina bifida, Cervical myelopathy, Inspiratory stridor |
OMIM:207950 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Respiratory distress |
ORPHA:66637 |
Encephalopathy, Ethylmalonic |
|
Failure to thrive, Acrocyanosis, Petechiae, Death in infancy |
OMIM:602473 |
Congenital Enterovirus Infection |
|
Leukopenia, Hepatic failure, Anemia, Abnormal macrophage morphology, Hepatitis, Respiratory distr... |
ORPHA:292 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure, Recurrent respiratory infections, Dyspnea, Respiratory distress |
ORPHA:2759 |
Diaphanospondylodysostosis |
|
Respiratory insufficiency, Abnormal liver lobulation, Respiratory distress, Pulmonary hypoplasia,... |
OMIM:608022 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory insufficiency, Nocturnal hypoventilation, Respiratory distress, Dyspnea, Stridor, Rec... |
OMIM:211530 |
Esophageal Atresia |
|
Cyanosis, Bronchitis, Aspiration, Small for gestational age, Respiratory distress, Chronic pulmon... |
ORPHA:1199 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Elevated circulating alanine aminotransferase concentration, Respirato... |
ORPHA:308552 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Pleural effusion, Eosinophilia, Myeloprolifera... |
ORPHA:3260 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Respiratory distress, Failure to thrive, Hepatomegaly, Thrombocytopenia, Neutropenia,... |
OMIM:251000 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Microves... |
OMIM:256810 |
Atrial Septal Defect, Ostium Primum Type |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Abnormal respiratory system physio... |
ORPHA:99106 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Rhizomelia, Respiratory distress, Hepatic steatosis, Recurrent pneumonia, Growth dela... |
OMIM:616271 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Neutrophilia, Respiratory distress, Hepatomegaly, Pulmonary fibrosis, Failure to thrive in infanc... |
OMIM:612852 |
Odontochondrodysplasia |
|
Respiratory distress, Short stature, Death in infancy |
ORPHA:166272 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Respiratory insufficiency, Abnormal pleura morphology, Weight loss, Asthma, Purpura, Acrocyanosis... |
ORPHA:183 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in childhood, Death in infancy |
OMIM:619334 |
Goodpasture Syndrome |
|
Cyanosis, Anemia, Pulmonary hemorrhage, Bloody bronchoalveolar lavage fluid, Exertional dyspnea, ... |
OMIM:233450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Death in infancy, Irregular respiration, Respiratory distress, Hepatomegaly, Inspiratory stridor |
OMIM:604377 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Hepatomegaly, Recurrent r... |
ORPHA:329178 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Acrocyanosis, Weight loss, Eosinophilia |
ORPHA:3165 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Toxic Epidermal Necrolysis |
|
Anemia, Abnormal pleura morphology, Neutropenia, Weight loss, Recurrent respiratory infections, E... |
ORPHA:537 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Splenomegaly, Anemia, Recurrent respiratory infections, Recurrent bronchopulmonary in... |
OMIM:617303 |
Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia, Upper airway obstruction, Respiratory distress |
OMIM:612776 |
Tarp Syndrome |
|
Cyanosis, Pulmonary hypoplasia, Apnea, Failure to thrive, Extramedullary hematopoiesis, Intrauter... |
ORPHA:2886 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Dyspnea, Respiratory distress, Cough |
ORPHA:86812 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Respiratory insufficiency, Cyanosis, Hepatic failure, Elevated hepatic transaminase, Hepatomegaly... |
ORPHA:159 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Acrocyanosis, Growth delay, Short stature |
ORPHA:1867 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Folinic Acid-Responsive Seizures |
|
Apnea, Respiratory distress |
ORPHA:79097 |
Meckel Syndrome 14 |
|
Cyanosis, Hepatic fibrosis, Pneumothorax, Pulmonary hypoplasia, Cardiorespiratory arrest, Occipit... |
OMIM:619879 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Respiratory distress, Hepatomegaly |
ORPHA:927 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Failure to thrive, Acrocyanosis, Growth delay |
OMIM:614407 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Palmoplantar cutis laxa, Rhizomelia, Respiratory distress, Dispr... |
OMIM:616482 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death |
OMIM:615918 |
Arnold-Chiari Malformation Type Ii |
|
Meningocele, Cyanosis, Myelomeningocele, Apnea, Pneumonia, Inspiratory stridor |
ORPHA:1136 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Cyanosis, Anomalous origin of left pulmonary artery from ascendi... |
ORPHA:99050 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Elevated hepatic t... |
ORPHA:348 |
Brain-Lung-Thyroid Syndrome |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Short stature, Asthm... |
ORPHA:209905 |
Thyroid Lymphoma |
|
Upper airway obstruction, Dyspnea, Respiratory distress, Stridor |
ORPHA:97285 |
Methylmalonic Aciduria, Cblb Type |
|
Anemia, Respiratory distress, Pancytopenia, Failure to thrive, Hepatomegaly, Thrombocytopenia, Ne... |
OMIM:251110 |
Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Cyanosis, Hypocapnia, Bronchiectasis, Pulmonary edema, Pulmonary... |
ORPHA:980 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis, Atelectasis |
ORPHA:896 |
Congenital Fibrinogen Deficiency |
|
Splenic rupture, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Cyanosis |
OMIM:610773 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Cyanosis, Hepatic arteriovenous malformation, Spontaneous, recurrent epistaxis, Fingerpad telangi... |
OMIM:187300 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Failure to thrive, Dyspnea, Growth delay, Respiratory failure |
ORPHA:2707 |
Methylmalonic Aciduria, Cbla Type |
|
Anemia, Respiratory distress, Pancytopenia, Failure to thrive, Hepatomegaly, Thrombocytopenia, Ne... |
OMIM:251100 |
Congenital Tracheal Stenosis |
|
Cyanosis, Anomalous origin of left pulmonary artery from ascending aorta, Abnormal lung lobation,... |
ORPHA:141127 |
Ethylmalonic Encephalopathy |
|
Failure to thrive, Acrocyanosis, Petechiae |
ORPHA:51188 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Failure to thrive, Respiratory distress, Growth delay |
OMIM:619272 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Prolonged neonatal jaundice, Jaundice, Microangiopathic hemolytic anemia, Respiratory distress, R... |
OMIM:274150 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Rhizomelia, Pulmonary hypoplasia, Respiratory distress, Stillbirth, Neonatal short-limb short sta... |
OMIM:151210 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death |
OMIM:602199 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death |
OMIM:245650 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory distress |
OMIM:617895 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Purpura, Acrocyanosis, Growth delay, Erythema, Hepatomegaly, Peritonitis, Urticaria |
ORPHA:343 |
Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Short stature, Purpura, Elevated hepatic transaminase, Acrocyanosis, Thrombocytopenia,... |
OMIM:225750 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Respiratory insufficiency, Cyanosis, Hepatic failure, Death in infancy, Apnea, Failure to thrive,... |
OMIM:252010 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Neutropenia, Recurrent respiratory infections, Hepatitis, Interstitial pneumonitis, Neutropenia i... |
ORPHA:37042 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Failure to thrive, Respiratory distress |
ORPHA:544503 |
Developmental And Epileptic Encephalopathy 68 |
|
Failure to thrive, Respiratory distress |
OMIM:618201 |
Leigh Syndrome With Cardiomyopathy |
|
Anemia, Decreased liver function, Respiratory distress, Apnea, Failure to thrive, Central hypoven... |
ORPHA:70474 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Recurrent respiratory infections, Respiratory distress, Hepatomegaly |
OMIM:619383 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy |
OMIM:613730 |
Multiple Carboxylase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:148 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory tract infection, Hepatitis, Increased circulating metamyelocyte count, Respiratory di... |
ORPHA:36234 |
Lujo Hemorrhagic Fever |
|
Leukopenia, Rhinitis, Fulminant hepatitis, Elevated hepatic transaminase, Respiratory distress, P... |
ORPHA:319213 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Palmoplantar cutis laxa, Short stature, Premature skin wrinkling... |
ORPHA:363705 |
Fanconi Anemia, Complementation Group O |
|
Neonatal death, Miscarriage, Death in infancy |
OMIM:613390 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory insufficiency, Respiratory distress |
ORPHA:1145 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Breathing dysregulation, Increased... |
ORPHA:99103 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Increased pulmonary vascular resis... |
ORPHA:99104 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ... |
ORPHA:98915 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Severe failure to thrive |
ORPHA:3304 |
Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Granulocytopenia, Short stature, Respiratory distress, Macrocytic anemia |
OMIM:606164 |
Mogs-Cdg |
|
Hypoventilation, Pulmonary edema, Respiratory distress, Hepatosplenomegaly, Apnea, Hepatomegaly, ... |
ORPHA:79330 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Weight loss, Acrocyanosis, Polycythemia, Pleural effusion, Restr... |
ORPHA:2905 |
Isolated Right Ventricular Hypoplasia |
|
Dyspnea, Cyanosis, Hypoxemia |
ORPHA:439 |
Mercury Poisoning |
|
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress |
ORPHA:330021 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short stature |
OMIM:617102 |
Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Petechiae, Microangiopathic hemolytic anemia, Purpura, Respiratory distress, ... |
ORPHA:2330 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Hypoventilation, Aspiration pneumonia, Respiratory distress, Apnea, Recurrent pneumonia |
ORPHA:314655 |
Fucosidosis |
|
Abnormality of the gallbladder, Acrocyanosis, Failure to thrive, Hepatomegaly, Vascular skin abno... |
ORPHA:349 |
Agnathia-Otocephaly Complex |
|
Tracheomalacia, Pulmonary hypoplasia, Respiratory distress |
OMIM:202650 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Short stature, Pulmonary artery hypoplasia, Delayed puberty, Growth delay |
ORPHA:2326 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death |
OMIM:619817 |
Ethylene Glycol Poisoning |
|
Cyanosis, Pulmonary edema, Abnormal pattern of respiration, Episodic respiratory distress, Tachypnea |
ORPHA:31826 |
Lymphatic Malformation 7 |
|
Anemia, Pulmonary edema, Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis, Methemoglobinemia |
OMIM:250790 |
Acquired Purpura Fulminans |
|
Macular purpura, Hepatic failure, Thrombocytopenia, Acrocyanosis |
ORPHA:49566 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency, Elevated circulating alanine aminotransferase concentration, Respirato... |
ORPHA:365 |
Nocardiosis |
|
Pneumothorax, Productive cough, Weight loss, Liver abscess, Pleuritis, Respiratory distress, Emph... |
ORPHA:31204 |
Hemorrhagic Fever-Renal Syndrome |
|
Anemia, Decreased body weight, Petechiae, Pulmonary edema, Elevated hepatic transaminase, Respira... |
ORPHA:340 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Pulmonary embolism, Megaloblastic anemia, Jaundice, Respiratory ... |
ORPHA:79282 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cyanosis, Asplenia, Biliary atresia, Bilateral trilobed lung, Myelomeningocele, Polysplenia, Resp... |
OMIM:306955 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Cholelithiasis |
OMIM:160900 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Pulmonary edema, Failure to thrive, Cough, Hepatomegaly, Tachypnea |
ORPHA:137675 |
Myasthenia Gravis |
|
Hemolytic anemia, Hepatitis, Acrocyanosis, Dyspnea, Pure red cell aplasia |
ORPHA:589 |
Truncus Arteriosus |
|
Cyanosis, Hypoplasia of the thymus, Anomalous origin of one pulmonary artery from ascending aorta... |
ORPHA:3384 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Pulmonary arterial hypertension, Cyanosis, Cirrhosis, Hepatic arteriovenous malformation, Facial ... |
OMIM:600376 |
Radio-Renal Syndrome |
|
Respiratory distress, Pleural effusion, Severe short stature, Dyspnea, Chylothorax, Respiratory f... |
ORPHA:3015 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Achondroplasia |
|
Rhizomelia, Death in infancy, Pulmonary hypoplasia, Respiratory distress, Upper airway obstructio... |
OMIM:100800 |
Rodrigues Blindness |
|
Nasal flaring, Short stature, Ectodermal dysplasia |
OMIM:268320 |
Scimitar Syndrome |
|
Pulmonary arterial hypertension, Pulmonary sequestration, Pneumothorax, Pulmonary hypoplasia, Res... |
ORPHA:185 |
Cryptococcosis |
|
Cirrhosis, Nodular pattern on pulmonary HRCT, Lymphoid leukemia, Respiratory distress, Pleural ef... |
ORPHA:1546 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Growth delay, Intrauterine growth retardation, Respiratory distress |
OMIM:612863 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Eunuchoid habitus |
ORPHA:98805 |
Afibrinogenemia, Congenital |
|
Neonatal death, Death in childhood, Death in infancy, Death in adolescence |
OMIM:202400 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Apnea, Cyanosis |
OMIM:619580 |
Kniest Dysplasia |
|
Rhizomelia, Respiratory distress, Tracheomalacia, Disproportionate short-trunk short stature, Umb... |
OMIM:156550 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Pulmonary edema, Respiratory distress, Pleural effusion, Apnea |
OMIM:261740 |
Diamond-Blackfan Anemia 10 |
|
Anemia, Steroid-responsive anemia, Reticulocytopenia, Short stature, Respiratory distress, Growth... |
OMIM:613309 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Pulmonary edema, Dyspnea, Respiratory distress, Hepatomegaly |
OMIM:115197 |
Boomerang Dysplasia |
|
Neonatal death |
OMIM:112310 |
Oromandibular Dystonia |
|
Respiratory distress, Weight loss |
ORPHA:93958 |
Nasolacrimal Duct Cyst |
|
Abnormal breath sound, Intercostal retractions, Paroxysmal dyspnea, Stridor, Episodic respiratory... |
ORPHA:141083 |
Fetal Gaucher Disease |
|
Neonatal death, Stillbirth, Death in infancy |
ORPHA:85212 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Failure to thrive in infancy |
ORPHA:488627 |
Meier-Gorlin Syndrome 1 |
|
Birth length less than 3rd percentile, Death in infancy, Small for gestational age, Respiratory d... |
OMIM:224690 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Biliary hyperplasia, B lymphocytopenia, Respiratory distress, Pulmonary hy... |
ORPHA:83617 |
Dermatomyositis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Cutaneous photosensitivity, Abnormal ... |
ORPHA:221 |
Osteogenesis Imperfecta, Type X |
|
Rhizomelia, Short stature, Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death... |
OMIM:613848 |
Infantile Krabbe Disease |
|
Respiratory failure, Failure to thrive, Cachexia, Respiratory distress |
ORPHA:206436 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Hypoventilation, Recurrent lower respiratory tract infections, Short stature, Asthma, E... |
ORPHA:293987 |
Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death |
OMIM:618232 |
Microlissencephaly-Micromelia Syndrome |
|
Failure to thrive, Respiratory distress |
ORPHA:50810 |
Listeriosis |
|
Hepatic granulomatosis, Liver abscess, Jaundice, Granulomatosis, Respiratory distress, Miscarriag... |
ORPHA:533 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Polysplenia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Pulm... |
OMIM:616749 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Respiratory distress, Apnea, Failure to thrive, Hepatic steatosis,... |
ORPHA:17 |
Tetanus |
|
Respiratory distress, Tachypnea |
ORPHA:3299 |
Criss-Cross Heart |
|
Respiratory insufficiency, Cyanosis |
ORPHA:1461 |
Eisenmenger Syndrome |
|
Pulmonary arterial hypertension, Cyanosis, Abnormality of the liver, Exertional dyspnea, Aortopul... |
ORPHA:97214 |
Lymphatic Malformation 12 |
|
Neonatal death, Death in adolescence |
OMIM:620014 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Respiratory distress, Hepatosplenomegaly, Ai... |
ORPHA:505248 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Small for gestatio... |
ORPHA:2255 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Cardiorespiratory arrest, Dyspnea, Pulmonary artery stenosis, Telangiectasi... |
ORPHA:3342 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Repeated pneumothoraces, Respiratory distress, Bruising susceptibility... |
ORPHA:536467 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death |
OMIM:253310 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Death in infancy, Partial anomalous pulmonary venous return |
OMIM:617478 |
Familial Dysautonomia |
|
Abnormal pleura morphology, Acrocyanosis, Abnormality of the peritoneum, Growth delay, Recurrent ... |
ORPHA:1764 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Anemia, Pneumothorax, Respiratory distress, Failure to thrive, Fragile skin, Dyspnea, Growth dela... |
ORPHA:79404 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Abnormality of the pancreas, Respiratory distress, Umbilical hernia |
ORPHA:1555 |
Inhalational Anthrax |
|
Dyspnea, Respiratory distress |
ORPHA:247257 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Cardiac total anomalous pulmonary ... |
ORPHA:99125 |
Hereditary Angioedema Type 1 |
|
Dermatographic urticaria, Respiratory distress, Dyspnea, Inspiratory stridor, Urticaria |
ORPHA:100050 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Acrocyanosis, Decreased sensitivity to hypoxemia, Growth ... |
OMIM:223900 |
Japanese Encephalitis |
|
Respiratory paralysis, Pulmonary edema, Irregular respiration, Neutrophilia, Respiratory distress... |
ORPHA:79139 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Respiratory distre... |
ORPHA:79329 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss, Aspiration, Reduced forced vital capacity, Respiratory distress, Hypercapnia, Restri... |
OMIM:164310 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Failure to thrive, Severe short stature, Dyspnea, Growth delay, Respiratory... |
ORPHA:2554 |
Pachyonychia Congenita |
|
Failure to thrive, Respiratory distress |
ORPHA:2309 |
Prader-Willi Syndrome Due To Translocation |
|
Recurrent respiratory infections, Short stature, Respiratory distress, Obesity, Intrauterine grow... |
ORPHA:177907 |
Abcd Syndrome |
|
Neonatal death |
OMIM:600501 |
Spondyloepiphyseal Dysplasia Congenita |
|
Restrictive ventilatory defect, Respiratory distress, Cervical myelopathy, Neonatal short-trunk s... |
OMIM:183900 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Recurrent respiratory infections, Respiratory distress, Short stature |
OMIM:300968 |
Ramos-Arroyo Syndrome |
|
Severe short stature, Decreased body weight, Respiratory distress, Severe failure to thrive |
ORPHA:1051 |
Pitt-Hopkins Syndrome |
|
Acrocyanosis, Failure to thrive, Abnormal pattern of respiration, Growth delay, Sleep apnea, Hype... |
ORPHA:2896 |
Cocaine Intoxication |
|
Pneumothorax, Pulmonary edema, Wheezing, Respiratory distress, Diffuse alveolar hemorrhage, Cough... |
ORPHA:90068 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Cyanosis, Palate telangiectasia, Nasal mucosa telangiectasia, Spontaneous, recurrent epistaxis, P... |
OMIM:610655 |
Unilateral Polymicrogyria |
|
Epistaxis, Cyanosis, Apnea, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Congenital Disorder Of Deglycosylation 1 |
|
Hepatic fibrosis, Decreased body weight, Central sleep apnea, Elevated hepatic transaminase, Resp... |
OMIM:615273 |
Coccidioidomycosis |
|
Abnormality of the liver, Pleural empyema, Peritonitis, Exudative pleural effusion, Respiratory d... |
ORPHA:228123 |
Aortic Arch Interruption |
|
Cyanosis, Aortopulmonary window, Exertional dyspnea, Respiratory distress, Tachypnea |
ORPHA:2299 |
Alternating Hemiplegia Of Childhood |
|
Aspiration, Respiratory distress, Flushing, Apnea, Failure to thrive |
ORPHA:2131 |
Rare Circulatory System Disease |
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Cyanosis |
ORPHA:98028 |
Spinal muscular atrophy, type I, with congenital bone fractures |
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Respiratory distress |
OMIM:271225 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
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Respiratory distress, Short stature |
OMIM:610536 |
Combined Oxidative Phosphorylation Deficiency 40 |
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Neonatal death, Death in infancy |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
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Neonatal death, Death in infancy |
OMIM:618839 |
Cardiac Valvular Dysplasia 2 |
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Pulmonary artery dilatation, Central cyanosis |
OMIM:620067 |
Auriculocondylar Syndrome |
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Snoring, Obstructive sleep apnea, Respiratory distress |
ORPHA:137888 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
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Neonatal respiratory distress, Tracheomalacia, Respiratory distress |
OMIM:217980 |
Campomelic Dysplasia |
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Tracheobronchomalacia, Spinal dysraphism, Spina bifida, Respiratory distress, Apnea, Failure to t... |
OMIM:114290 |
Biotinidase Deficiency |
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Apnea, Hyperventilation, Myelopathy, Respiratory distress |
ORPHA:79241 |
Congenital Alveolar Capillary Dysplasia |
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Pulmonary arterial hypertension, Asplenia, Absent gallbladder, Respiratory distress, Annular panc... |
ORPHA:210122 |
Adnp Syndrome |
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Short stature, Aspiration, Respiratory distress, Recurrent upper respiratory tract infections, Tr... |
ORPHA:404448 |
Hyperparathyroidism, Transient Neonatal |
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Splenic cyst, Respiratory distress, Umbilical hernia |
OMIM:618188 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Hepatic failure, Apnea, Failure to thrive, Dyspnea, Hepatomegaly, Hyperventilation, Episodic resp... |
ORPHA:255210 |
Rubinstein-Taybi Syndrome 1 |
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Respiratory tract infection, Short stature, Spina bifida, Small for gestational age, Respiratory ... |
OMIM:180849 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Pulmonary arterial hypertension, Respiratory distress |
ORPHA:2519 |
Leptospirosis |
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Pulmonary hemorrhage, Hepatitis, Jaundice, Respiratory distress, Pleural effusion, Thrombocytopen... |
ORPHA:509 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
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Respiratory distress |
ORPHA:990 |
Postinfectious Vasculitis |
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Weight loss, Palpable purpura, Acrocyanosis, Vasculitis in the skin, Cutis marmorata, Recurrent s... |
ORPHA:48435 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Abnormal pulmonary interstitial morphology, Respiratory distress, Fragile skin, Erythema, Neonata... |
OMIM:614748 |
Atrioventricular septal defect 3 |
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Pulmonary arterial hypertension, Cyanosis |
OMIM:600309 |
Hutchinson-Gilford Progeria Syndrome |
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Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Weight loss, Prominent superficial... |
ORPHA:740 |
Schinzel-Giedion Syndrome |
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Myeloid leukemia, Neural tube defect, Respiratory distress, Pulmonary hypoplasia, Hepatoblastoma,... |
ORPHA:798 |
Beare-Stevenson Cutis Gyrata Syndrome |
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Palmoplantar cutis laxa, Respiratory distress |
OMIM:123790 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Respiratory distress |
ORPHA:438216 |
Tuberous Sclerosis Complex |
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Respiratory tract infection, Hepatic cysts, Respiratory distress, Respiratory failure, Pulmonary ... |
ORPHA:805 |
Neuromuscular Oculoauditory Syndrome |
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Respiratory distress, Aspiration |
OMIM:618733 |
Arboleda-Tham Syndrome |
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Recurrent aspiration pneumonia, Respiratory distress, Growth delay, Neonatal respiratory distress... |
OMIM:616268 |
Pfeiffer Syndrome Type 2 |
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Tracheomalacia, Respiratory distress |
ORPHA:93259 |
Osteoglophonic Dysplasia |
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Rhizomelia, Failure to thrive, Respiratory distress |
OMIM:166250 |
Colchicine Poisoning |
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Cardiorespiratory arrest, Respiratory distress, Leukocytosis |
ORPHA:31824 |
Pfeiffer Syndrome Type 3 |
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Tracheomalacia, Respiratory distress |
ORPHA:93260 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Failure to thrive, Severe short stature, Dyspnea, Growth delay, Erythema, R... |
ORPHA:2556 |
Aicardi-Goutières Syndrome |
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Chronic lymphatic leukemia, Short stature, Arrhinencephaly, Acrocyanosis, Elevated hepatic transa... |
ORPHA:51 |
8Q24.3 Microdeletion Syndrome |
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Infancy onset short-trunk short stature, Short stature, Small for gestational age, Exocrine pancr... |
ORPHA:508488 |
Mednik Syndrome |
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Neonatal death, Death in childhood, Death in infancy |
OMIM:609313 |
Stüve-Wiedemann Syndrome |
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Short stature, Asthma, Respiratory distress, Apnea, Intrauterine growth retardation |
ORPHA:3206 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Anemia, Rhinitis, Neutropenia, Elevated hepatic transaminase, Respiratory distress, Cough, Respir... |
ORPHA:95455 |
Ulbright-Hodes Syndrome |
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Pneumothorax, Birth length less than 3rd percentile, Pulmonary hypoplasia, Respiratory distress, ... |
ORPHA:3404 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Hypohidrotic ectodermal dysplasia, Rhinitis, Periorbital wrinkles, Respiratory distress |
OMIM:305100 |
Gitelman Syndrome |
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Neoplasm of the pancreas, Respiratory distress, Failure to thrive, Delayed puberty, Iron deficien... |
ORPHA:358 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Neonatal death |
OMIM:619362 |
Primary Hyperoxaluria |
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Failure to thrive, Acrocyanosis, Elevated hepatic transaminase, Cutis marmorata |
ORPHA:416 |
Cleidocranial Dysplasia 1 |
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Neonatal respiratory distress, Moderately short stature, Respiratory distress, Short stature |
OMIM:119600 |
Generalized Arterial Calcification Of Infancy |
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Pulmonary arterial hypertension, Cyanosis, Pancreatic calcification, Respiratory distress, Hepati... |
ORPHA:51608 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Asthma, Nasal flaring, Obesity |
ORPHA:466943 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Splenomegaly, Respiratory distress, Hepatomegaly, Short stature |
OMIM:617088 |
Doors Syndrome |
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Aspiration pneumonia, Arrhinencephaly, Respiratory distress, Spina bifida occulta, Sirenomelia, T... |
ORPHA:79500 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Acute myelomonocytic leukemia, Short stature, Respiratory distress, Recurrent pneumonia, Failure ... |
ORPHA:99646 |
Cardiac Valvular Dysplasia 1 |
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Cyanosis, Pulmonary artery atresia |
OMIM:212093 |
Isolated Arrhinia |
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Respiratory distress |
ORPHA:1134 |
Alström Syndrome |
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Chronic bronchitis, Elevated hepatic transaminase, Recurrent sinusitis, Hepatosplenomegaly, Hepat... |
ORPHA:64 |
Congenitally Corrected Transposition Of The Great Arteries |
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Cyanosis, Failure to thrive, Pulmonary artery atresia |
ORPHA:216694 |
Plague |
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Splenomegaly, Respiratory distress, Hepatomegaly, Acute infectious pneumonia |
ORPHA:707 |
Classical Ehlers-Danlos Syndrome |
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Acrocyanosis, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearance, Poo... |
ORPHA:287 |
Hyperoxaluria, Primary, Type I |
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Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Coffin-Lowry Syndrome |
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Acrocyanosis, Decreased body weight, Cutis marmorata, Short stature |
OMIM:303600 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Cyst of the ductus choledochus, Short stature, Respiratory distress, Recurrent upper and lower re... |
ORPHA:480880 |
Hypermobile Ehlers-Danlos Syndrome |
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Apnea, Acrocyanosis, Umbilical hernia |
ORPHA:285 |
Visceral Steatosis, Congenital |
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Neonatal death |
OMIM:228100 |
Pmm2-Cdg |
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Hepatic fibrosis, Aspiration pneumonia, Abnormal subcutaneous fat tissue distribution, Impaired n... |
ORPHA:79318 |