Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Cleft palate, Aspiration pneumonia, Weight loss, Upper airway obstruction, ... |
ORPHA:141152 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
High palate, Failure to thrive, Diaphragmatic weakness, Poor head control, Gastroesophageal reflu... |
OMIM:614399 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Progressive proximal muscle weakness, Distal muscle weakness, Respiratory i... |
ORPHA:254875 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Fatigable weakness, Ophthalmoparesis, Limb muscle weakness, Apneic episodes... |
OMIM:605809 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Fatigable weakness, Ophthalmoparesis, Apneic episodes precipitated by illne... |
OMIM:254210 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Failure to thrive, Hepatic steatosis |
OMIM:615595 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Decreased body weight, Short stature, Frontalis muscle weakness, Facial pal... |
OMIM:300580 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Small for gestational age, Abnormal respiratory system physiol... |
ORPHA:70589 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Cough, Pleural effusion, Dysphagia, Abnormal respiratory syst... |
ORPHA:50251 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
High palate, Respiratory distress, Hepatomegaly, Macroglossia, Respiratory failure requiring assi... |
ORPHA:254864 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Cough, Dysphagia, Abnormal pattern of respirati... |
ORPHA:77260 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Failure to thrive, Intrauterine growth retardation, Increased level of meth... |
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, Abnormal renal corticomedullary differentiation,... |
OMIM:616733 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Obesity, Renal cyst, Renal insufficiency |
OMIM:615993 |
Perching Syndrome |
|
High palate, Dysphagia, Respiratory distress |
OMIM:617055 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Stillbirth, Neonatal death, Dysphagia, Pulmonary arterial hypertension, Int... |
OMIM:619751 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Median cleft lip and palate, Respiratory failure, Dyspnea, Intrauterine gro... |
ORPHA:1832 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Failure to thrive, Tachypnea, Cough, Tubulointerstitial fibrosis, Respirato... |
OMIM:263000 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Failure to thrive, Aminoaciduria, Cachexia, Proximal tubulopathy, External ... |
OMIM:612075 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency, Generalized muscle weakness |
ORPHA:238329 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia |
OMIM:254120 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Splenomegaly, Cirrhosis, Hepatocellular carci... |
OMIM:613490 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... |
ORPHA:60032 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
High palate, Respiratory distress, Distal muscle weakness, Paradoxical respiration, Foot dorsifle... |
OMIM:620011 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Severe short stature, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Diaphragmatic weakness, Respiratory insufficiency, Dysphagia, Tongue atroph... |
OMIM:211530 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Progressive proximal muscle weakness, Pelvic girdle muscle weakness, Weakne... |
ORPHA:2596 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Gastroesophageal reflux, Hepatomegaly, Chronic pulmonary obstruction, Splen... |
ORPHA:2414 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Respiratory failure requir... |
ORPHA:264675 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Hypospadias, Failure to thrive |
OMIM:300934 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... |
ORPHA:1302 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Agenesis of corpus callosum, Bronchiectasis |
OMIM:619466 |
Stt3B-Cdg |
|
Respiratory distress, Failure to thrive, Intrauterine growth retardation, Micropenis |
ORPHA:370924 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Respiratory distress, Multiple renal cysts, Cleft palate |
ORPHA:66637 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Failure to thrive, Intrauterine growth retardation, Micropenis |
OMIM:615597 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Failure to thrive, Cough, Tachypnea, Intercostal retractions, Reduced force... |
ORPHA:91359 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Synaptic Congenital Myasthenic Syndromes |
|
High palate, Respiratory distress, Sleep apnea, Poor head control, Exertional dyspnea, Distal mus... |
ORPHA:98915 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Gowers sign, Limb-girdle muscle weakness, Cough, Proximal muscle weakness, ... |
ORPHA:86812 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Failure to thrive, Hepatomegaly, Oligosacchariduria, Macroglossia, Respirat... |
ORPHA:308552 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Organic aciduria, Hepatomegaly, Respiratory distress |
OMIM:614741 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal tubular dysfunction, High palate, Failure to thrive, Decreased liver function, Hepatomegaly... |
OMIM:220110 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Tracheoesophageal fistula, Cough, Upper airway obstruction, Dysphagia, Dysp... |
ORPHA:142 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Failure to thrive |
ORPHA:91130 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Renal cortical cysts, Hepatomegaly, Glycosuria, Neonatal death, Generalized... |
OMIM:231680 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, High palate, Fatigable weakness of swallowing muscles, Respiratory failure ... |
ORPHA:596 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Failure to thrive, Decreased liver function, Hepatomegaly, Hepatic failure,... |
ORPHA:367 |
Congenital Myasthenic Syndrome |
|
High palate, Respiratory arrest, Sudden episodic apnea, Bulbar palsy, Poor head control, Episodic... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
High palate, Respiratory arrest, Sudden episodic apnea, Bulbar palsy, Poor head control, Episodic... |
ORPHA:98914 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
High palate, Failure to thrive, Respiratory distress, Poor head control, Hypospadias, Growth dela... |
OMIM:619272 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Hypoplastic spleen, Dysphagia, Intrauterine growth retardation, Agenesis of... |
ORPHA:89844 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
High palate, Respiratory distress, Distal muscle weakness, Respiratory insufficiency, Proximal mu... |
ORPHA:1145 |
Malaria |
|
Respiratory distress, Acute kidney injury |
ORPHA:673 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Failure to thrive, Hepatomegaly, Pancreatitis, Splenomegaly, Renal insuffic... |
ORPHA:79312 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Respiratory distress, Hepatomegaly, Pancreatitis, Renal insufficiency,... |
ORPHA:289916 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Failure to thrive, Intrauterine growth retardation |
ORPHA:261304 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Myotonic Dystrophy 1 |
|
Facial diplegia, Cholelithiasis, Respiratory distress, Muscle weakness, Dysphagia |
OMIM:160900 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Lower limb muscle weakness, Upper limb muscle weakness, Respiratory distress, Respiratory insuffi... |
ORPHA:1143 |
Oculopharyngodistal Myopathy 1 |
|
High palate, Respiratory distress, Distal muscle weakness, Hypercapnia, Ophthalmoparesis, Foot do... |
OMIM:164310 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Short stature |
ORPHA:2374 |
Congenital Disorder Of Glycosylation, Type Iu |
|
High palate, Elevated hepatic transaminase, Respiratory distress, Neonatal respiratory distress |
OMIM:615042 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... |
ORPHA:70588 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Failure to thrive, Gastroesophageal reflux |
OMIM:618426 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Failure to thrive, Hypoxemia, Respiratory insufficiency, Interstitial pneum... |
OMIM:610913 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Anal atresia, Respiratory distress, Intestinal malrotation, Tracheoesophageal f... |
ORPHA:210122 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Failure to thrive, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Neon... |
OMIM:610921 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... |
ORPHA:1303 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
OMIM:237310 |
Hypoglossia With Situs Inversus |
|
High palate, Respiratory distress, Upper airway obstruction, Microglossia, Polysplenia, Asplenia |
OMIM:612776 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Failure to thrive, Respiratory distress, Splenomegaly, Respiratory insufficiency,... |
OMIM:615512 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Respiratory failure, Fatigable weakness of swallowing muscles... |
ORPHA:365 |
Avian Influenza |
|
Respiratory distress, Nonproductive cough, Tachypnea, Cough, Elevated hepatic transaminase, Hepat... |
ORPHA:454836 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Failure to thrive, Hepatomegaly, High, narrow palate, Splenomegaly, Elevate... |
OMIM:608799 |
Restrictive Dermopathy 2 |
|
Gastroesophageal reflux, Rectal prolapse, Intrauterine growth retardation, Respiratory distress |
OMIM:619793 |
Multiple Carboxylase Deficiency |
|
Organic aciduria, Limb muscle weakness, Respiratory distress, Tachypnea |
ORPHA:148 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Hypoplasia of penis, Holoprosencephaly, Microglossia, Agenesis of corpus ca... |
ORPHA:990 |
Congenital Diaphragmatic Hernia |
|
Intestinal malrotation, Respiratory distress, Hypoxemia |
ORPHA:2140 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Organic aciduria, Growth delay, Weight loss |
ORPHA:79242 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
Idiopathic Neonatal Atrial Flutter |
|
Large for gestational age, Respiratory distress, Tachypnea |
ORPHA:45452 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Steator... |
OMIM:260400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress |
OMIM:604377 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... |
ORPHA:36238 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Acute Lung Injury |
|
Respiratory distress, Tachypnea, Acute pancreatitis, Pneumonia, Hypoxemia, Dyspnea, Respiratory f... |
ORPHA:178320 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
High palate, Failure to thrive, Respiratory distress, Poor head control, Hepatomegaly, Elevated h... |
ORPHA:329178 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Failure to thrive, High, narrow palate, Muscle flaccidity, Dyspnea, Growth ... |
ORPHA:2707 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Respiratory distress, Hydrocephalus, High, narrow palate, Anteriorly placed anus, Gr... |
OMIM:612863 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Cleft palate, Holoprosencephaly, Tracheomalacia, Aglossia, Microglossia, Ag... |
OMIM:202650 |
Thyroid Lymphoma |
|
Respiratory distress, Upper airway obstruction, Dysphagia, Dyspnea, Stridor |
ORPHA:97285 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia |
ORPHA:1423 |
Familial Nasal Acilia |
|
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea |
ORPHA:922 |
Diaphanospondylodysostosis |
|
Respiratory distress, Cleft palate, Tracheomalacia, Abnormal liver lobulation, Respiratory insuff... |
OMIM:608022 |
Esophageal Atresia |
|
Respiratory distress, Cleft palate, Tracheoesophageal fistula, Pyloric stenosis, Anorectal anomal... |
ORPHA:1199 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Episodic tachypnea, Increased urinary glycerol, Apneic episod... |
ORPHA:348 |
Myotubular Myopathy With Abnormal Genital Development |
|
High palate, Respiratory distress, Micropenis, Hypospadias, Glandular hypospadias, Neonatal death... |
OMIM:300219 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Macroglossia, Large for gestational age, Umbilical hernia, Prolonged neonat... |
ORPHA:226313 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Failure to thrive, Pancreatitis, Hepatomegaly, Methylmalonic aciduria, Tubu... |
OMIM:251000 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Failure to thrive, Decreased liver function, Apnea, Renal tubular acidosis,... |
ORPHA:70474 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Dysphagia, Respiratory distress |
ORPHA:240103 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Jaundice, Episodic tachypnea, Small for gestational age, Tach... |
ORPHA:26793 |
Infantile Krabbe Disease |
|
Respiratory distress, Failure to thrive, Poor head control, Gastroesophageal reflux, Shoulder gir... |
ORPHA:206436 |
Mercury Poisoning |
|
Respiratory distress, Interstitial pneumonitis, Acute kidney injury, Dyspnea, Generalized muscle ... |
ORPHA:330021 |
Laryngeal Web, Familial |
|
Respiratory distress, Stridor |
OMIM:150360 |
Toxic Epidermal Necrolysis |
|
Dysuria, Respiratory distress, Malabsorption, Pancreatitis, Acute hepatic failure, Tracheoesophag... |
ORPHA:537 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Decreased body weight, Hepatomegaly, Hepatic failure, Splenomegaly, ... |
OMIM:608013 |
Pfeiffer Syndrome Type 3 |
|
High palate, Anal atresia, Respiratory distress, Aqueductal stenosis, Cleft palate, Tracheomalaci... |
ORPHA:93260 |
Q Fever |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hematuria, Cholecystitis, C... |
ORPHA:781 |
Sepsis In Premature Infants |
|
Decreased liver function, Decreased body weight, Hepatomegaly, Enterocolitis, Small for gestation... |
ORPHA:90051 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Tracheoesophageal fistula, Pneumonia, Tracheomalacia, Whee... |
ORPHA:95430 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Crackles, Wheezing, Tac... |
OMIM:610978 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Aplasia/Hypoplasia of the tongue |
ORPHA:2759 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Moebius Syndrome |
|
Facial diplegia, High palate, Respiratory distress, Micropenis, Bifid uvula, Dysphagia |
OMIM:157900 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive, Hepatomegaly |
ORPHA:927 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Poor head control, Reduced renal corticomedullary differentiation, Multiple... |
OMIM:618733 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Failure to thrive, Asthma, Short stature, Hypospadias, Respiratory failure,... |
ORPHA:209905 |
Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Nephronophthisis, Short stature, Polycystic kidney dysplasia, Mesomelic sho... |
OMIM:184260 |
Pfeiffer Syndrome Type 2 |
|
High palate, Anal atresia, Hydrocephalus, Respiratory distress, Aqueductal stenosis, Cleft palate... |
ORPHA:93259 |
Tetrasomy 5P |
|
High palate, Failure to thrive, Hydrocephalus, Respiratory distress, Postnatal growth retardation... |
ORPHA:3309 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia |
OMIM:606763 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological ... |
ORPHA:141127 |
Primary Dystonia, Dyt4 Type |
|
Dysphagia, Respiratory distress, Eunuchoid habitus |
ORPHA:98805 |
Oromandibular Dystonia |
|
Dysphagia, Weight loss, Respiratory distress |
ORPHA:93958 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Ileus, Malabsorption, Nephrotic syndrome, Gastritis, Colitis, Respirat... |
ORPHA:37042 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Episodic respiratory distress, Gastroesophageal reflux, Episodic hypoventilation, Muscle weakness... |
OMIM:301790 |
Tetanus |
|
Respiratory distress, Tachypnea, Dysphagia, Elevated urinary epinephrine, Elevated urinary norepi... |
ORPHA:3299 |
Radio-Renal Syndrome |
|
Respiratory distress, Severe short stature, High, narrow palate, Chylothorax, Multicystic kidney ... |
ORPHA:3015 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Failure to thrive, Ketonuria, Hepatomegaly, Methylmalonic aciduria |
OMIM:251110 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Failure to thrive |
OMIM:618201 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Melena, Decreased glomerular filtration rate, Hematuria, Proteinuria, Pneum... |
ORPHA:340 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Nephrotic syndrome, Hepatomegaly, Nephritis, Macroglossia, Splenomegaly, Ma... |
OMIM:617303 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Gastroesophageal reflux, Macroglossia, Short stature, Pyloric stenosis, Lar... |
ORPHA:363705 |
Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia, Short stature |
OMIM:617180 |
Cryptococcosis |
|
Respiratory distress, Hydrocephalus, Cirrhosis, Peritonitis, Cough, Limb muscle weakness, Pneumon... |
ORPHA:1546 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Failure to thrive |
ORPHA:544503 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Hydrocephalus, Narrow palate, Cleft palate, Abnormality of the pancreas, An... |
ORPHA:1555 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short stature |
OMIM:617102 |
Odontochondrodysplasia |
|
Respiratory distress, Short stature |
ORPHA:166272 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Failure to thrive, Malabsorption, Colitis, Pancreatitis, Asthma, Splenomega... |
ORPHA:3260 |
Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Failure to thrive, Ketonuria, Hepatomegaly, Methylmalonic aciduria |
OMIM:251100 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Failure to thrive, Apnea, Episodic respiratory distress, Hepatomegaly, Hepatic failure, Ophthalmo... |
ORPHA:255210 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Cleft palate, Tracheomalacia, Hypospadias, Anteriorly placed anus, Neonatal... |
OMIM:217980 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, 3-Methylglutaconic aciduria, Recurrent pneumonia, Growth delay,... |
OMIM:616271 |
Interstitial Lung And Liver Disease |
|
Failure to thrive, Hepatomegaly, Aminoaciduria, Hepatic failure, Cirrhosis, Respiratory insuffici... |
OMIM:615486 |
Farber Disease |
|
Respiratory distress, Failure to thrive, Hepatic failure, Short stature, Hepatosplenomegaly, Resp... |
ORPHA:333 |
Slc35A1-Cdg |
|
Respiratory distress, Hypoxemia, Pneumonia |
ORPHA:238459 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Failure to thrive, Ketonuria, Hydrocephalus, Jaundice, Methylmalonic acidur... |
ORPHA:79282 |
Infant Acute Respiratory Distress Syndrome |
|
Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Myelopathy, Organic aciduria, Limb muscle weakness, Hyperventilation |
ORPHA:79241 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hydrocephalus, Narrow palate, Anteriorly placed anus, Agenesis of corpus ca... |
OMIM:123790 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Odynophagia, Nonproductive cough, Fulminant hepatitis, Crackles, Oliguria, ... |
ORPHA:319213 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
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Respiratory distress, Bifid uvula, Cleft palate, Short stature |
OMIM:606164 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
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High palate, Apnea, Respiratory distress, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation |
ORPHA:314655 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
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High palate, Hepatomegaly, Respiratory distress |
OMIM:619383 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Dysuria, Failure to thrive, Respiratory distress, Ureterocele, Hydroureter, Ureteral obstruction,... |
ORPHA:79404 |
Ear-Patella-Short Stature Syndrome |
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Respiratory distress, Failure to thrive, Severe short stature, Hypoplasia of penis, Cleft palate,... |
ORPHA:2554 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Respiratory distress, Jaundice, Abnormal renal physiology, Proteinuria, Prolonged neonatal jaundi... |
OMIM:274150 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Recurrent gastroenteritis, Respiratory distress, Hydrocephalus, Nephrotic syndrome, Airway obstru... |
ORPHA:505248 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Respiratory distress, Hepatomegaly, Failure to thrive in infancy, Splenomegaly |
OMIM:612852 |
Heterotaxy, Visceral, 1, X-Linked |
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Myelomeningocele, Posteriorly placed anus, Hydrocephalus, Anal atresia, Duodenal atresia, Aqueduc... |
OMIM:306955 |
Kniest Dysplasia |
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Respiratory distress, Cleft palate, Tracheomalacia, Disproportionate short-trunk short stature, R... |
OMIM:156550 |
Renal Dysplasia-Limb Defects Syndrome |
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High palate, Respiratory distress, Neonatal death, Renal hypoplasia, Respiratory failure, Pneumot... |
OMIM:266910 |
Nasolacrimal Duct Cyst |
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Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea... |
ORPHA:141083 |
Hereditary Angioedema Type 1 |
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Intestinal edema, Respiratory distress, Abnormal soft palate morphology, Inspiratory stridor, Dys... |
ORPHA:100050 |
Congenital Enterovirus Infection |
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Respiratory distress, Hepatic failure, Cholestasis, Hepatitis, Pleural effusion |
ORPHA:292 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Respiratory distress, Failure to thrive, Exocrine pancreatic insufficiency, Small for gestational... |
ORPHA:2255 |
Hyperparathyroidism, Transient Neonatal |
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Respiratory distress |
OMIM:618188 |
Ramos-Arroyo Syndrome |
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Respiratory distress, Decreased body weight, Severe short stature, Severe failure to thrive, Xero... |
ORPHA:1051 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Respiratory distress, Failure to thrive, Apnea, Gastroesophageal reflux, Hepatomegaly, Hypospadia... |
ORPHA:17 |
Choanal Atresia |
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Respiratory distress, Tracheomalacia, Abnormal nasal mucus secretion, Chronic sinusitis, Upper ai... |
ORPHA:137914 |
Cocaine Intoxication |
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Respiratory distress, Colitis, Hematuria, Tachypnea, Pneumothorax, Wheezing, Tubulointerstitial n... |
ORPHA:90068 |
Auriculocondylar Syndrome |
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Respiratory distress, Cleft palate, Glossoptosis, Bifid uvula, Hamartoma of tongue, Microglossia,... |
ORPHA:137888 |
Diamond-Blackfan Anemia 10 |
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Respiratory distress, Cleft palate, Short stature, Ectopic kidney, Growth delay |
OMIM:613309 |
Spondyloepiphyseal Dysplasia Congenita |
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Respiratory distress, Cleft palate, Neonatal short-trunk short stature, Bifid uvula, Restrictive ... |
OMIM:183900 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
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Respiratory distress, Esophageal atresia, Cleft palate, Short stature |
OMIM:610536 |
Complete Atrioventricular Septal Defect |
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Failure to thrive, Pulmonary venous hypertension, Hepatomegaly, Crackles, Elevated pulmonary arte... |
ORPHA:1329 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Respiratory distress, Respiratory failure |
OMIM:617895 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
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Respiratory distress, Anal atresia, Cleft palate, Short stature, Bifid uvula, Hydronephrosis |
OMIM:300968 |
Microlissencephaly-Micromelia Syndrome |
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Respiratory distress, Failure to thrive |
ORPHA:50810 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Cholelithiasis, Failure to thrive, Respiratory distress, Hepatomegaly, Cleft palate, Micropenis, ... |
ORPHA:83617 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Abnormality of the anus, Hydrocephalus, Failure to thrive, Severe short sta... |
ORPHA:2556 |
Episodic Ataxia Type 1 |
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Respiratory distress |
ORPHA:37612 |
Congenital Disorder Of Deglycosylation 1 |
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Respiratory distress, Chondroitin sulfate excretion in urine, Decreased body weight, Hepatomegaly... |
OMIM:615273 |
Ethylene Glycol Poisoning |
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Renal tubular dysfunction, Episodic respiratory distress, Gastritis, Facial palsy, Hematuria, Tac... |
ORPHA:31826 |
Pachyonychia Congenita |
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Respiratory distress, Failure to thrive, Oral leukoplakia |
ORPHA:2309 |
Meier-Gorlin Syndrome 1 |
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High palate, Failure to thrive, Respiratory distress, Gastroesophageal reflux, Cleft palate, Micr... |
OMIM:224690 |
Japanese Encephalitis |
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Respiratory distress, Distal upper limb muscle weakness, Irregular respiration, Respiratory paral... |
ORPHA:79139 |
Mogs-Cdg |
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High palate, Apnea, Respiratory distress, Hepatomegaly, Hepatosplenomegaly, Hypoventilation |
ORPHA:79330 |
Campomelic Dysplasia |
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High palate, Failure to thrive, Hydrocephalus, Neonatal short-limb short stature, Disproportionat... |
OMIM:114290 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Respiratory distress, Pulmonary arterial hypertension, Micropenis |
ORPHA:2519 |
Inhalational Anthrax |
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Respiratory distress, Dyspnea |
ORPHA:247257 |
Bacterial Toxic-Shock Syndrome |
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Respiratory distress, Sinusitis, Peritonitis, Tachypnea, Hepatitis, Renal insufficiency, Pneumoni... |
ORPHA:36234 |
Nocardiosis |
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Respiratory distress, Nonproductive cough, Peritonitis, Pneumothorax, Productive cough, Pneumonia... |
ORPHA:31204 |
Schinzel-Giedion Syndrome |
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Nephrolithiasis, High palate, Annular pancreas, Respiratory distress, Hepatoblastoma, Macroglossi... |
ORPHA:798 |
Spinal muscular atrophy, type I, with congenital bone fractures |
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High palate, Respiratory distress |
OMIM:271225 |
Arterial Tortuosity Syndrome |
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Respiratory distress, Hiatus hernia, Gastroesophageal reflux, Pyloric stenosis, Median cleft lip ... |
ORPHA:3342 |
Alternating Hemiplegia Of Childhood |
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Respiratory distress, Failure to thrive, Apnea, Abnormality of the gastrointestinal tract, Aspira... |
ORPHA:2131 |
Rodrigues Blindness |
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Nasal flaring, Short stature |
OMIM:268320 |
Osteoglophonic Dysplasia |
|
High palate, Chordee, Failure to thrive, Respiratory distress, Hypospadias, Rhizomelia |
OMIM:166250 |
Prader-Willi Syndrome Due To Translocation |
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High palate, Respiratory distress, Cleft palate, Short stature, Bifid uvula, Lateral ventricle di... |
ORPHA:177907 |
Coccidioidomycosis |
|
Respiratory distress, Hydrocephalus, Pancreatitis, Pleural empyema, Peritonitis, Abnormality of t... |
ORPHA:228123 |
Rubinstein-Taybi Syndrome 1 |
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High palate, Failure to thrive, Respiratory distress, Narrow palate, Postnatal growth retardation... |
OMIM:180849 |
Gitelman Syndrome |
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Neoplasm of the pancreas, Failure to thrive, Respiratory distress, Renal tubular acidosis, Noctur... |
ORPHA:358 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Respiratory distress, Dyspnea, Hepatomegaly |
OMIM:115197 |
Lymphatic Malformation 7 |
|
Respiratory distress |
OMIM:617300 |
Adnp Syndrome |
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Respiratory distress, Gastroesophageal reflux, Short stature, Urinary incontinence, Truncal obesi... |
ORPHA:404448 |
Mgat2-Cdg |
|
Respiratory distress, Failure to thrive, Gastroesophageal reflux |
ORPHA:79329 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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High palate, Respiratory distress, Hydrocephalus, Tracheomalacia, Repeated pneumothoraces, Respir... |
ORPHA:536467 |
Listeriosis |
|
Splenic abscess, Respiratory distress, Peritonitis, Cholecystitis, Hepatic granulomatosis, Acute ... |
ORPHA:533 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Chronic kidney disease, Renal angiomyolipoma, Noncommunicating hydrocephalu... |
ORPHA:805 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Failure to thrive, Apnea, Hepatomegaly, Aminoaciduria, Cleft palate, Jaundice, Intrahepatic bilia... |
OMIM:214110 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Dysuria, Respiratory distress, Oral-pharyngeal dysphagia, Abnormal penis morphology, Xerostomia, ... |
ORPHA:95455 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Asthma, Gastroesophageal reflux, Dilatation of renal calices, Dysphagia, Pelvic kidney, Obesity, ... |
ORPHA:466943 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Gastroesophageal reflux, Cleft palate, Intestinal malrotation, Recurrent as... |
OMIM:616268 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
High palate, Respiratory distress |
ORPHA:438216 |
Colchicine Poisoning |
|
Oliguria, Respiratory distress, Renal insufficiency, Cardiorespiratory arrest |
ORPHA:31824 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Short stature, Aplasia of the epiglottis, Horse... |
OMIM:617088 |
Eisenmenger Syndrome |
|
Respiratory distress, Hepatomegaly, Wheezing, Muscle weakness, Renal insufficiency, Hypoxemia, Ex... |
ORPHA:97214 |
Infantile Refsum Disease |
|
Failure to thrive, Hepatomegaly, Short stature, Progressive muscle weakness, Facial palsy |
ORPHA:772 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Growth delay, Asthma, Muscle weakness, Short stature |
OMIM:616716 |
Ulbright-Hodes Syndrome |
|
High palate, Severe intrauterine growth retardation, Respiratory distress, Abnormal penis morphol... |
ORPHA:3404 |
Cleidocranial Dysplasia 1 |
|
High palate, Respiratory distress, Narrow palate, High, narrow palate, Cleft palate, Neonatal res... |
OMIM:119600 |
Plague |
|
Respiratory distress, Hepatomegaly, Enterocolitis, Hematemesis, Splenomegaly, Inflammation of the... |
ORPHA:707 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Asthma, Short stature, Smooth tongue, Intrauterine growth retardation |
ORPHA:3206 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, High palate, Respiratory distress, Narrow pala... |
ORPHA:79500 |
Leptospirosis |
|
Respiratory distress, Hepatomegaly, Cough, Hepatitis, Acute kidney injury, Elevated serum transam... |
ORPHA:509 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Hepatic hemangioma |
ORPHA:2330 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Respiratory acidosis, Nephrotic syndrome, Decreased glomerular filtration r... |
OMIM:614748 |
Alström Syndrome |
|
Respiratory distress, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Uri... |
ORPHA:64 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Intrauterine growth retardation, Cleft maxillary alveolus, Exocrine pancrea... |
ORPHA:508488 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
High palate, Anal atresia, Respiratory distress, Cyst of the ductus choledochus, Cleft palate, Sh... |
ORPHA:480880 |
Zellweger Syndrome |
|
High palate, Failure to thrive, Malabsorption, Hepatomegaly, Short stature, Hepatic failure, Hypo... |
ORPHA:912 |
Scimitar Syndrome |
|
Respiratory distress, Pneumothorax, Pulmonary arterial hypertension, Cough |
ORPHA:185 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Medullary nephrocalcinosis, Hepatic calcification, Pancreatic calcification... |
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 |
|
D-2-hydroxyglutaric aciduria, Failure to thrive, Respiratory distress, Short stature, Unilateral ... |
ORPHA:99646 |
Aortic Arch Interruption |
|
Respiratory distress, Exertional dyspnea, Tachypnea |
ORPHA:2299 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Hepatomegaly, Paroxysmal dyspnea, Apneic episodes in infancy, Respiratory f... |
ORPHA:99125 |
Pmm2-Cdg |
|
High palate, Failure to thrive, Respiratory distress, Nephrotic syndrome, Aspiration pneumonia, M... |
ORPHA:79318 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of the liver, Short stature |
ORPHA:44 |
Peroxisome Biogenesis Disorder 2B |
|
High palate, High, narrow palate |
OMIM:202370 |