Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Weight loss, Aspiration pn... |
ORPHA:141152 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Poor head control, Facial palsy, Diaphragmatic paralysis, Respiratory insuf... |
OMIM:614399 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Bulbar palsy, Sudden episodic apnea, Respiratory insufficiency due to muscl... |
OMIM:605809 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakness,... |
ORPHA:254875 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Bulbar palsy, Sudden episodic apnea, Respiratory insufficiency due to muscl... |
OMIM:254210 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Short stature, Facial palsy, Respiratory insufficiency due to muscle weakne... |
OMIM:300580 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal respiratory system physiology, Dysphagia, W... |
ORPHA:50251 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Macroglos... |
ORPHA:254864 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Respiratory insufficiency due ... |
OMIM:613561 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Ophthalmoplegia, Dysphagia, Cough, Abnormal pat... |
ORPHA:77260 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Renal insufficiency, Short stature, Stage 5 chronic kidney disease, Renal c... |
OMIM:615993 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine, Int... |
ORPHA:26792 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Agenesis of corpus callosum |
ORPHA:171703 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Small for gestational age, Postnatal growth retardation, Abnormal renal cor... |
OMIM:616733 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Stillbirth, Dysphagia, Neonatal death, Pulmonary arterial hypertension, Int... |
OMIM:619751 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Generalized muscle weakness, Respiratory insufficiency |
ORPHA:238329 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation, Median cleft... |
ORPHA:1832 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Hepatomegaly, Poor head control, Elevated circulating aspartate aminotransf... |
OMIM:615595 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive, Tubulointerstitia... |
OMIM:263000 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary... |
OMIM:613490 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Cachexia, External ophthalmoplegia, Weight loss, Aminoaciduria, Proximal tu... |
OMIM:612075 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia |
OMIM:254120 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir... |
OMIM:616974 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Distal muscle weakness, Diaphragmatic paralysis, Paradoxical respiration, W... |
OMIM:620011 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Bulbar palsy, Tongue at... |
OMIM:211530 |
Perching Syndrome |
|
Respiratory distress, High palate, Dysphagia |
OMIM:617055 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Severe short stature, Failure to thrive, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Progressive proximal muscle weakness, Shoulder girdle muscle weakness, Weak... |
ORPHA:2596 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Agenesis of corpus callosum, Abnormal mucociliary clearance |
OMIM:619466 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Growth delay, Ga... |
ORPHA:2414 |
Diaphanospondylodysostosis |
|
Respiratory distress, Myelomeningocele, Multiple renal cysts, Cleft palate |
ORPHA:66637 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... |
ORPHA:264675 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... |
ORPHA:1302 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotr... |
OMIM:212140 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Failure to thrive, Hypospadias |
OMIM:300934 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Stt3B-Cdg |
|
Respiratory distress, Intrauterine growth retardation, Micropenis, Failure to thrive |
ORPHA:370924 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Proximal muscle weakness, Dyspnea, Limb-girdle muscle weakness, Gowers sign... |
ORPHA:86812 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Intrauterine growth retardation, Micropenis, Failure to thrive |
OMIM:615597 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Hepatomegaly, Organic aciduria |
OMIM:614741 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Proximal ... |
ORPHA:308552 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Tracheoesophageal fistula, Weight loss, ... |
ORPHA:142 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Poor head control, Distal m... |
ORPHA:98915 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Failure to thrive |
ORPHA:91130 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Fatigable we... |
ORPHA:596 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due... |
OMIM:220110 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Failure to thrive, Portal hype... |
ORPHA:367 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal... |
OMIM:231680 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Renal insufficiency, Splenomegaly, Failure to thrive, Pancrea... |
ORPHA:79312 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Poor head control, Hypospadias, Growth delay, High palate, Pulmonary arteri... |
OMIM:619272 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Poor head control, Tachypnea, Respiratory insufficiency, Resp... |
OMIM:614299 |
Malaria |
|
Respiratory distress, Acute kidney injury |
ORPHA:673 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Renal insufficiency, Renal tubular dysfunction, Growth delay,... |
ORPHA:289916 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Dysphagia, Intrauterine growth retardation, Hypoplastic spleen, Agenesis of... |
ORPHA:89844 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Distal muscle weakness, Proximal muscle weakness, Generalized muscle weakne... |
ORPHA:1145 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hepatomegaly, Short stature, Ophthalmoplegia, Renal hypoplasia, 3-Methylglu... |
ORPHA:254913 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Proximal muscle weakness, Progressive muscle weakness, Respiratory failure,... |
OMIM:620166 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Upper limb muscle weakness, Respiratory insufficiency due to muscle weaknes... |
ORPHA:1143 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
OMIM:237310 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Intrauterine growth retardation, Failure to thrive |
ORPHA:261304 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea, Cleft palate, Glossoptosis, Microglossia |
OMIM:614669 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Short stature |
ORPHA:2374 |
Congenital Myasthenic Syndrome |
|
Bulbar palsy, Poor head control, Sudden episodic apnea, Proximal muscle weakness, Intermittent ep... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Bulbar palsy, Poor head control, Sudden episodic apnea, Proximal muscle weakness, Intermittent ep... |
ORPHA:98914 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Distal muscle weakness, Facial palsy, Hypercapnia, Proximal muscle weakness... |
OMIM:164310 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Elevated hepatic transaminase, Neonatal respiratory distress, High palate, Respiratory distress |
OMIM:615042 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia... |
ORPHA:210122 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Respiratory distress, Microvesicular hepatic steatosis, Progressive muscle... |
OMIM:256810 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F... |
OMIM:610921 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Facial diplegia, Dysphagia, Cholelithiasis, Muscle weakness |
OMIM:160900 |
Avian Influenza |
|
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Productive cough, Nonproductive c... |
ORPHA:454836 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Asplenia, Upper airway obstruction, High palate, Polysplenia, Microglossia |
OMIM:612776 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Splenomegaly, High, narrow pal... |
OMIM:608799 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Splenomegaly, Jaundice, P... |
OMIM:615512 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Aglossia, Cleft palate, Holoprosencephaly, Tracheomalacia, Microglossia, Ag... |
OMIM:202650 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Intestinal malrotation, Hypoxemia |
ORPHA:2140 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Large for gestational age |
ORPHA:45452 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Intrauterine growth retardation, Rectal prolapse, Gastroesophageal reflux |
OMIM:619793 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Weight loss, Growth delay, Organic aciduria |
ORPHA:79242 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Orthopnea, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:365 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Hypoplasia of penis, Holoprosencephaly, Microglossia, Agenesis of corpus ca... |
ORPHA:990 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Neonatal respiratory distress,... |
OMIM:260400 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:178320 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, High, narrow palate, Hydrocephalus, Submucous cleft hard palate, Anteriorly... |
OMIM:612863 |
Esophageal Atresia |
|
Respiratory distress, Gastrointestinal dysmotility, Anorectal anomaly, Gastroesophageal reflux, A... |
ORPHA:1199 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Elevated hepatic transaminase, Hepatomegaly, Poor head control, Respiratory distress, High palate... |
ORPHA:329178 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, High, narrow palate, Growth delay, Respiratory failure, Muscle fla... |
ORPHA:2707 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia |
ORPHA:97285 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Urinary incontinence, Hydr... |
OMIM:616482 |
Diaphanospondylodysostosis |
|
Respiratory distress, Disproportionate short-trunk short stature, Horseshoe kidney, Respiratory i... |
OMIM:608022 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia |
ORPHA:1423 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Hypospadias, Glandular hypospadias, High palate, Neonatal death, Micropenis... |
OMIM:300219 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Respiratory distress, Failure to thrive, 4-hydroxyphenylacetic aci... |
OMIM:617156 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Respiratory distress, ... |
ORPHA:537 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubul... |
OMIM:251000 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Generalized muscle weakness, Respiratory failure, Interstitial pne... |
ORPHA:330021 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Increased urinary glycerol, In... |
ORPHA:348 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Small for gestational age, Epi... |
ORPHA:26793 |
Infantile Krabbe Disease |
|
Respiratory distress, Poor head control, Cachexia, Respiratory failure, Shoulder girdle muscle we... |
ORPHA:206436 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Large for gestational age, Macroglossia, Prolonged neonatal jaundice, Umbil... |
ORPHA:226313 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Dysphagia |
ORPHA:240103 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Intestinal malrotation, Tracheomalacia, Aqueductal stenosis, Horseshoe kidn... |
ORPHA:93260 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Sepsis In Premature Infants |
|
Hepatomegaly, Small for gestational age, Abnormal mucociliary clearance, Splenomegaly, Jaundice, ... |
ORPHA:90051 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Hepatomegaly, Failure to thrive |
ORPHA:927 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Splenomegaly, Dysphagia, Hepatosplenomegaly, Decreased... |
OMIM:608013 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Emphysema, Neonatal respir... |
ORPHA:95430 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Pneumonia, Splenomegaly, Hepat... |
ORPHA:781 |
Moebius Syndrome |
|
Respiratory distress, Facial diplegia, High palate, Dysphagia, Micropenis, Bifid uvula |
OMIM:157900 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Hepatomegaly, High palate, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Aplasia/Hypoplasia of the tongue |
ORPHA:2759 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Poor head control, Multiple renal cysts, Reduced renal corticomedullary dif... |
OMIM:618733 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Short stature, Mesomelic short stature, Polycystic kidney dysplasia, Nephro... |
OMIM:184260 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, H... |
ORPHA:93259 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Failure to thrive |
OMIM:618201 |
Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Hypospadias, Short stature, Asthma, Recurren... |
ORPHA:209905 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Tetrasomy 5P |
|
Respiratory distress, Postnatal growth retardation, Hydrocephalus, High palate, Pulmonary arteria... |
ORPHA:3309 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Respiratory distress, Failure to thrive in infancy, Pneumonia, Cac... |
ORPHA:37042 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Eunuchoid habitus, Dysphagia |
ORPHA:98805 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Abnormal stomach morphology, Neonatal asphyxia, Wheezing, Dyspnea, Abnormal... |
ORPHA:141127 |
Radio-Renal Syndrome |
|
Respiratory distress, Multicystic kidney dysplasia, Severe short stature, Dyspnea, High, narrow p... |
ORPHA:3015 |
Tetanus |
|
Respiratory distress, Elevated urinary norepinephrine level, Tachypnea, Elevated urinary epinephr... |
ORPHA:3299 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Peritonitis, Ophthalmoplegia, Limb muscl... |
ORPHA:1546 |
Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
Oromandibular Dystonia |
|
Respiratory distress, Dysphagia, Weight loss |
ORPHA:93958 |
Chitayat Syndrome |
|
Respiratory distress, Short stature, Tracheomalacia |
OMIM:617180 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Gastrointestinal hemorrhage, Short stature, Large for gestational age, Dysp... |
ORPHA:363705 |
Odontochondrodysplasia |
|
Respiratory distress, Short stature |
ORPHA:166272 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Abnormality of the pancreas, Hydrocephalus, Narrow palate, Cleft palate, An... |
ORPHA:1555 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, C... |
ORPHA:340 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Failure to thrive |
ORPHA:544503 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Hypospadias, Small for gestational age, Rhizomelia, Recurrent pneumonia, Mi... |
OMIM:607143 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Proteinuria, Splenomegaly, Recurrent pneumonia, Nephrotic syn... |
OMIM:617303 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Hepatomegaly, Ketonuria, Methylmalonic aciduria, Failure to thrive |
OMIM:251110 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Respiratory distress, Cholangitis, Pulmonary embolism, Malabsorpti... |
ORPHA:3260 |
Farber Disease |
|
Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Intrahepatic cholestasis ... |
ORPHA:333 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, Recurrent pneumonia, Growth delay, 3-Methylglutaconic aciduria,... |
OMIM:616271 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Hypospadias, Cleft palate, Anteriorly placed... |
OMIM:217980 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Failure to thrive, Apnea, Dyspnea, Episodic respiratory distress, Lacticaciduria, O... |
ORPHA:255210 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia |
ORPHA:238459 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Respiratory distress, Renal insufficiency, Crackles, Nonproductive... |
ORPHA:319213 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Respiratory distress, Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolytic-uremic syndro... |
ORPHA:79282 |
Hyperparathyroidism, Transient Neonatal |
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Communicating hydrocephalus, Respiratory distress, Unilateral renal agenesis, Gastroesophageal re... |
OMIM:618188 |
Biotinidase Deficiency |
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Respiratory distress, Apnea, Myelopathy, Organic aciduria, Limb muscle weakness, Hyperventilation |
ORPHA:79241 |
Infant Acute Respiratory Distress Syndrome |
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Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Heterotaxy, Visceral, 1, X-Linked |
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Respiratory distress, Hepatomegaly, Aqueductal stenosis, Asplenia, Myelomeningocele, Hydrocephalu... |
OMIM:306955 |
Methylmalonic Aciduria, Cbla Type |
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Respiratory distress, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Meth... |
OMIM:251100 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
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Respiratory distress, Hepatomegaly, High palate |
OMIM:619383 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Urethral stricture, Respiratory distress, Multicystic kidney dysplasia, Hydroureter, Dysuria, Pne... |
ORPHA:79404 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
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Respiratory distress, Short stature |
OMIM:617102 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
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Respiratory distress, Short stature, Bifid uvula, Cleft palate |
OMIM:606164 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
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Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, High palate, Aspiration pneumonia |
ORPHA:314655 |
Beare-Stevenson Cutis Gyrata Syndrome |
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Respiratory distress, Hypospadias, Hydrocephalus, Narrow palate, Anteriorly placed anus, High pal... |
OMIM:123790 |
Ear-Patella-Short Stature Syndrome |
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Respiratory distress, Hypoplasia of penis, Severe short stature, Hypospadias, Epispadias, Dyspnea... |
ORPHA:2554 |
Kniest Dysplasia |
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Respiratory distress, Rhizomelia, Disproportionate short-trunk short stature, Cleft palate, Trach... |
OMIM:156550 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Respiratory distress, Ureteral duplication, Failure to thrive, Small for gestational age, Intesti... |
ORPHA:2255 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Respiratory distress, Proteinuria, Heparan sulfate excretion in urine, Hydrocephalus, Hepatosplen... |
ORPHA:505248 |
Nasolacrimal Duct Cyst |
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Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Congenital Myopathy 22B, Severe Fetal |
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Respiratory distress, Hepatomegaly, Gowers sign, Ophthalmoplegia, Limb muscle weakness, Axial mus... |
OMIM:620369 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Hypospadias, Apnea, Methylmalo... |
ORPHA:17 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Splenomegaly, Hepatomegaly, Failure to thrive in infancy, Respiratory distress |
OMIM:612852 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Respiratory distress, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Prolonged neonatal jaundi... |
OMIM:274150 |
Choanal Atresia |
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Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal... |
ORPHA:137914 |
Osteogenesis Imperfecta, Type X |
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Respiratory distress, Short stature, Rhizomelia, Pyloric stenosis, Recurrent pneumonia, Nephrolit... |
OMIM:613848 |
Hereditary Angioedema Type 1 |
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Respiratory distress, Intestinal edema, Abnormal soft palate morphology, Dyspnea, Dysphagia, Abno... |
ORPHA:100050 |
Ramos-Arroyo Syndrome |
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Respiratory distress, Severe short stature, Aganglionic megacolon, Xerostomia, Smooth tongue, Dec... |
ORPHA:1051 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
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Respiratory distress, Generalized muscle weakness, Respiratory failure, High palate, Chylothorax,... |
OMIM:620278 |
Congenital Enterovirus Infection |
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Respiratory distress, Hepatitis, Cholestasis, Pleural effusion, Hepatic failure |
ORPHA:292 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
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Respiratory distress, Esophageal atresia, Short stature, Cleft palate |
OMIM:610536 |
Spondyloepiphyseal Dysplasia Congenita |
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Respiratory distress, Cleft palate, Cervical myelopathy, Restrictive ventilatory defect, Neonatal... |
OMIM:183900 |
Diamond-Blackfan Anemia 10 |
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Respiratory distress, Short stature, Ectopic kidney, Cleft palate, Growth delay |
OMIM:613309 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
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Respiratory distress, Rhizomelia, Stillbirth, Neonatal short-limb short stature |
OMIM:151210 |
Cocaine Intoxication |
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Respiratory distress, Proteinuria, Glomerulonephritis, Intestinal perforation, Wheezing, Tachypne... |
ORPHA:90068 |
Episodic Ataxia Type 1 |
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Respiratory distress |
ORPHA:37612 |
Pachyonychia Congenita |
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Respiratory distress, Failure to thrive, Oral leukoplakia |
ORPHA:2309 |
Complete Atrioventricular Septal Defect |
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Hepatomegaly, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevat... |
ORPHA:1329 |
Microlissencephaly-Micromelia Syndrome |
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Respiratory distress, Failure to thrive |
ORPHA:50810 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Respiratory distress, Hepatomegaly, Failure to thrive, Biliary hyperplasia, Pyloric stenosis, Pos... |
ORPHA:83617 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
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Respiratory distress, Short stature, Cleft palate, Hydronephrosis, Bifid uvula, Anal atresia |
OMIM:300968 |
Mogs-Cdg |
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Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Hepatosplenomegaly, High palate |
ORPHA:79330 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Respiratory distress, Respiratory failure |
OMIM:617895 |
Japanese Encephalitis |
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Respiratory distress, Facial palsy, Distal upper limb muscle weakness, Respiratory paralysis, Mus... |
ORPHA:79139 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormal penis morphology, Respiratory distress, Severe short stature, Hypospadias, Epispadias, H... |
ORPHA:2556 |
Ethylene Glycol Poisoning |
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Renal insufficiency, Gastritis, Facial palsy, Abnormal pattern of respiration, Ophthalmoplegia, T... |
ORPHA:31826 |
Inhalational Anthrax |
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Respiratory distress, Dyspnea |
ORPHA:247257 |
Meier-Gorlin Syndrome 1 |
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Respiratory distress, Small for gestational age, Emphysema, Cleft palate, Birth length less than ... |
OMIM:224690 |
Campomelic Dysplasia |
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Respiratory distress, Neonatal respiratory distress, Hypospadias, Apnea, Spina bifida, Hydrocepha... |
OMIM:114290 |
Spinal muscular atrophy, type I, with congenital bone fractures |
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Respiratory distress, High palate |
OMIM:271225 |
Bacterial Toxic-Shock Syndrome |
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Respiratory distress, Renal insufficiency, Sinusitis, Glomerulonephritis, Pneumonia, Peritonitis,... |
ORPHA:36234 |
Achondroplasia |
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Respiratory distress, Rhizomelia, Hydrocephalus, Upper airway obstruction, Neonatal short-limb sh... |
OMIM:100800 |
Congenital Disorder Of Deglycosylation 1 |
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Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Oral-pharyngeal dysphagia, Hep... |
OMIM:615273 |
Arterial Tortuosity Syndrome |
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Respiratory distress, Hiatus hernia, Dyspnea, Pyloric stenosis, Cardiorespiratory arrest, Respira... |
ORPHA:3342 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Gastroesophageal reflux, Fa... |
OMIM:618426 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Respiratory distress, Pulmonary arterial hypertension, Micropenis |
ORPHA:2519 |
Nocardiosis |
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Respiratory distress, Liver abscess, Pneumonia, Productive cough, Nonproductive cough, Peritoniti... |
ORPHA:31204 |
Prader-Willi Syndrome Due To Translocation |
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Respiratory distress, Short stature, Obesity, Cleft palate, Lateral ventricle dilatation, High pa... |
ORPHA:177907 |
Alternating Hemiplegia Of Childhood |
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Respiratory distress, Abnormality of the gastrointestinal tract, Apnea, Oral-pharyngeal dysphagia... |
ORPHA:2131 |
Schinzel-Giedion Syndrome |
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Respiratory distress, Hypospadias, Failure to thrive in infancy, Aganglionic megacolon, Recurrent... |
ORPHA:798 |
Auriculocondylar Syndrome |
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Respiratory distress, Hamartoma of tongue, Cleft palate, Glossoptosis, Microglossia, Bifid uvula |
ORPHA:137888 |
Rodrigues Blindness |
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Nasal flaring, Short stature |
OMIM:268320 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Respiratory distress, Hepatomegaly, Dyspnea |
OMIM:115197 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Respiratory distress, Apnea, Hydrocephalus, Macroglossia, Pleural effusion, Enlarged kidney |
OMIM:261740 |
Coccidioidomycosis |
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Respiratory distress, Renal insufficiency, Pneumonia, Abnormality of the spleen, Peritonitis, Hyd... |
ORPHA:228123 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Hydrocephalus, Respi... |
ORPHA:536467 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Respiratory distress, Pneumothorax, Glandular hypospadias |
OMIM:620306 |
Gitelman Syndrome |
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Neoplasm of the pancreas, Respiratory distress, Proteinuria, Urinary incontinence, Decreased urin... |
ORPHA:358 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Intrahepatic biliary dysgenesis, Hepatomegaly, Apnea, Jaundice, Cleft palate, Aminoaciduria, Poly... |
OMIM:214110 |
Rubinstein-Taybi Syndrome 1 |
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Accessory spleen, Respiratory distress, Failure to thrive, Hypospadias, Small for gestational age... |
OMIM:180849 |
Adnp Syndrome |
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Respiratory distress, Short stature, Urinary incontinence, Oral-pharyngeal dysphagia, Truncal obe... |
ORPHA:404448 |
Osteoglophonic Dysplasia |
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Respiratory distress, Severe short stature, Hypospadias, Rhizomelia, Growth delay, Chordee, High ... |
OMIM:166250 |
Listeriosis |
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Respiratory distress, Liver abscess, Pneumonia, Jaundice, Peritonitis, Pyelonephritis, Hepatic gr... |
ORPHA:533 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Respiratory distress, High palate |
ORPHA:438216 |
Mgat2-Cdg |
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Respiratory distress, Failure to thrive, Gastroesophageal reflux |
ORPHA:79329 |
Tuberous Sclerosis Complex |
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Respiratory distress, Renal insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease... |
ORPHA:805 |
8Q24.3 Microdeletion Syndrome |
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Respiratory distress, Gastrointestinal hemorrhage, Branchial cyst, Infancy onset short-trunk shor... |
ORPHA:508488 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Asthma, Nasal flaring, Gastrointestinal dysmotility, Obesity, Pelvic kidney, Gastroesophageal ref... |
ORPHA:466943 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Abnormal penis morphology, Elevated hepatic transaminase, Respiratory distress, Respiratory failu... |
ORPHA:95455 |
Arboleda-Tham Syndrome |
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Respiratory distress, Neonatal respiratory distress, Intestinal malrotation, Cleft palate, Growth... |
OMIM:616268 |
Colchicine Poisoning |
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Respiratory distress, Renal insufficiency, Oliguria, Cardiorespiratory arrest |
ORPHA:31824 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Respiratory distress, Hepatomegaly, Short stature, Splenomegaly, Aplasia of the epiglottis, Horse... |
OMIM:617088 |
Eisenmenger Syndrome |
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Respiratory distress, Hepatomegaly, Renal insufficiency, Increased pulmonary vascular resistance,... |
ORPHA:97214 |
Infantile Refsum Disease |
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Hepatomegaly, Short stature, Facial palsy, Progressive muscle weakness, Failure to thrive |
ORPHA:772 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
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Growth delay, Asthma, Short stature, Muscle weakness |
OMIM:616716 |
Cleidocranial Dysplasia 1 |
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Respiratory distress, Neonatal respiratory distress, Short stature, High, narrow palate, Moderate... |
OMIM:119600 |
Plague |
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Respiratory distress, Hepatomegaly, Hematemesis, Splenomegaly, Enterocolitis, Acute infectious pn... |
ORPHA:707 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hepatic hemangioma, Hypopnea |
ORPHA:2330 |
Ulbright-Hodes Syndrome |
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Abnormal penis morphology, Respiratory distress, Postnatal growth retardation, Pneumothorax, Rena... |
ORPHA:3404 |
Stüve-Wiedemann Syndrome |
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Respiratory distress, Apnea, Short stature, Asthma, Smooth tongue, Intrauterine growth retardation |
ORPHA:3206 |
Leptospirosis |
|
Respiratory distress, Hepatomegaly, Cellular urinary casts, Jaundice, Hepatitis, Cough, Elevated ... |
ORPHA:509 |
Doors Syndrome |
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Respiratory distress, Increased urine alpha-ketoglutarate concentration, Cleft palate, Narrow pal... |
ORPHA:79500 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Renal insufficiency, Neonatal respiratory distress, Proteinuria, Respirator... |
OMIM:614748 |
Scimitar Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough |
ORPHA:185 |
Alström Syndrome |
|
Respiratory distress, Urinary incontinence, Functional abnormality of the bladder, Hepatic fibros... |
ORPHA:64 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Short stature, Malabs... |
ORPHA:912 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Short stature, Cyst of the ductus choledochus, Cleft palate, High palate, D... |
ORPHA:480880 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Hyperphosphaturia, Failure to thrive in infancy, Hepatic calcification, Nep... |
ORPHA:51608 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis |
OMIM:305100 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Short stature, Unilateral renal agenesis, Recurrent pneumonia, Growth delay... |
ORPHA:99646 |
Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Apneic ep... |
ORPHA:99125 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of the liver, Short stature |
ORPHA:44 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Respiratory distress, Proteinuria, Abnormal liver parenchyma morph... |
ORPHA:79318 |
Peroxisome Biogenesis Disorder 2B |
|
High, narrow palate, High palate |
OMIM:202370 |