| Charcot-Marie-Tooth Disease Type 2B1 |
|
Inability to walk, Axonal degeneration, Proximal muscle weakness in lower limbs, Toe extensor amy... |
ORPHA:98856 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal d... |
OMIM:614436 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Gait disturbance, Foot dorsiflexor weakness, Steppage gait, Axonal degeneration |
OMIM:616155 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... |
OMIM:606482 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Respiratory distress, Axonal degeneration, Arthrogryposis-like hand anomaly, Diaphragmatic eventr... |
OMIM:620011 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Axonal d... |
OMIM:214400 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Peripher... |
OMIM:602433 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Internally nucleated skeletal muscle fibers, Axonal degenera... |
OMIM:618138 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Failure to thrive, Axonal degeneration, Weakness of facial musculature, Hand muscle atrophy, Fall... |
OMIM:618811 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Failure to thrive, Decreased nerve conduction velocity, Axonal degeneration, Small for gestationa... |
OMIM:604320 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Hand muscle weakness, Dysmetria, Axonal degeneration, Tip-toe gait, Onion bulb formation, Decreas... |
OMIM:302800 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Axonal degeneration, Degeneration of anterior horn cells, Gait disturbance, Decreased number of p... |
OMIM:604484 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Inability to walk, Axonal degeneration, Peripheral axonal neuropathy, Decreased... |
OMIM:615490 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Cerebral atrophy, Dysmetria, Axonal degeneration, Dysdiadochokinesis, Neurodegeneration, ... |
OMIM:615157 |
| Amyotrophy, Hereditary Neuralgic |
|
Short stature, Axonal degeneration, Peripheral axonal degeneration, Brachial plexus neuropathy, S... |
OMIM:162100 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:610021 |
| Diaminopentanuria |
|
Ataxia, Neurodegeneration |
OMIM:222350 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Peripheral hypomyelination, Cerebral atrophy, Axonal degeneration, Short stature, Decreas... |
OMIM:604168 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, Cerebral atrophy, Neurodegeneration, Optic atrophy, Cerebellar atrophy |
OMIM:610951 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Loss of ambulation, Limb at... |
OMIM:208920 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Gait disturbance, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Proxima... |
OMIM:608030 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Neurodegeneration, Cerebellar atrophy |
OMIM:615889 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight, Ty... |
OMIM:300580 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Peripheral axonal neuropathy, Distal amyotrophy |
OMIM:619099 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Tip-toe gait, Neurodegeneration, Distal amyotrophy, Gait disturbance, Motor axonal neuropathy |
OMIM:615643 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia, Short stature, Neurodegeneration, Gait ataxia, Cerebellar atroph... |
ORPHA:438134 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Orthostatic hypotension, Decreased number of peripheral myelinated nerve fibers, Peripheral axona... |
OMIM:608720 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Weakness of facial musculature, Pelvic girdle muscle weakness, Peripheral a... |
ORPHA:2596 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Failure to thrive, Muscle fiber necrosis, EMG: myopathic abnormalities, Dia... |
OMIM:614399 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss |
ORPHA:141152 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency, Increased variability in muscle fiber diameter, ... |
ORPHA:238329 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Cerebral cortical atrophy, Decreased body weight, Cerebral atrophy, Neurodegeneration, Ce... |
OMIM:617672 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Reduced vital capacity, Internally nucleated skeletal muscle fibers,... |
ORPHA:178464 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Abnormal muscle fiber morphology, Weakness of facial muscu... |
ORPHA:1145 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Right ventricular hypertrophy, Small for gestational age, Abno... |
ORPHA:70589 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Flexion contracture of finger, Axonal degeneration, Camptodactyly, Gait disturbance, Gait... |
ORPHA:88628 |
| Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis, Loss of ambulation |
OMIM:615515 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
| Perching Syndrome |
|
Respiratory distress, Flexion contracture, Camptodactyly |
OMIM:617055 |
| Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Decreased nerve conduction velocity |
OMIM:612577 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrop... |
OMIM:605809 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Neurodegeneration, Atrophy/Degeneration affecting the brai... |
OMIM:612319 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Neuronal loss in central nervous system |
OMIM:604377 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Diffuse cerebellar atrophy, Abnormal autonomic nervous system physiology, Axona... |
ORPHA:478029 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:205250 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, I... |
ORPHA:86812 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Apneic epi... |
OMIM:254210 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Failure to thrive |
OMIM:615595 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Loss of ambulation, Hand muscle weakness, Intrinsic hand muscle atroph... |
ORPHA:101097 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Weakness of facial muscul... |
ORPHA:254875 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Failure to thrive, Respiratory distress, Myopathy |
ORPHA:26792 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:611895 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:614373 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic neuropathy, Axonal degeneration, Optic atrophy, Cerebellar atrophy, Global brain atrophy |
OMIM:616811 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Failure to thrive, Cerebral atrophy, Cerebellar atrophy |
OMIM:618426 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
| Stt3B-Cdg |
|
Optic atrophy, Failure to thrive, Respiratory distress, Cerebellar atrophy |
ORPHA:370924 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Abnormal autonomic nervous system physio... |
OMIM:300894 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Increased muscle glycogen content, Macroglossia, Respiratory failure requir... |
ORPHA:254864 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Failure to thrive, Cerebral cortical atrophy, Flexion contracture |
OMIM:618201 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Failure to thrive, Myopathy |
ORPHA:91130 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Optic atrophy, Failure to thrive, Respiratory distress, Cerebellar atrophy |
OMIM:615597 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Acute infantile spinal muscular atrophy, Flexion contracture, Degeneration ... |
OMIM:271225 |
| Spastic Paraplegia 79, Autosomal Recessive |
|
Ataxia, Cerebral atrophy, Dysmetria, Flexion contracture, Neurodegeneration, Optic atrophy, Cereb... |
OMIM:615491 |
| Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Abnormal respiratory system physiology, Neurodegeneration, Motor n... |
ORPHA:803 |
| Pleural Mesothelioma |
|
Respiratory distress, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system physiology, W... |
ORPHA:50251 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... |
ORPHA:60032 |
| Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Decrease... |
OMIM:603511 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Respiratory failure requir... |
ORPHA:264675 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Left ventricular noncompaction |
OMIM:613642 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Failure to thrive, Cough, Tachypnea, Intercostal retractions, Reduced force... |
ORPHA:91359 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Ankle flexion contracture, Flexion contracture, Lower limb... |
ORPHA:1143 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... |
ORPHA:1302 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Failure to thrive, Cough, Tachypnea, Respiratory failure |
OMIM:263000 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Limb muscle weakness |
OMIM:619141 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Decreased nerve conduction vel... |
OMIM:256600 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Adrenomyeloneuropathy |
|
Axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Abnormality of cent... |
ORPHA:139399 |
| Krabbe Disease |
|
Failure to thrive, Decreased nerve conduction velocity, Neurodegeneration, Optic atrophy, Diffuse... |
OMIM:245200 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Obesity |
OMIM:615993 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
| De Sanctis-Cacchione Syndrome |
|
Ataxia, Severe short stature, Cerebral atrophy, Axonal degeneration, Optic atrophy, Choreoathetos... |
OMIM:278800 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Ataxia, Flexion contracture, Short stature, Neurodegeneration, Unsteady gait, Cerebellar atrophy |
OMIM:615919 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Failure to thrive, Cerebral cortical atrophy, Cerebral atrophy, Corpus call... |
OMIM:619272 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Flexion contracture, Cough |
ORPHA:77260 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Neonatal death, Camptodactyly, Pulmonary arterial hypertension, Stillbirth |
OMIM:619751 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
| Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... |
OMIM:105400 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Small for gestational age, Left ventricular hypertroph... |
OMIM:616733 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:614808 |
| Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Loss of ambulation, Neuronal loss in central nervous system, Dista... |
OMIM:608627 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Axonal loss |
OMIM:300857 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Abnormal skeletal muscle morphology, Cough, Upper airway obstruction, Dyspn... |
ORPHA:142 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Failure to thrive, Pontocerebellar atrophy, Muscular dystrophy, Camptodacty... |
OMIM:608799 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea, Optic atrophy, Cerebellar atrophy, Frontotemporal cerebral atrophy |
ORPHA:79097 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Hepatomegaly |
OMIM:232700 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
| X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Respiratory distress, Weakness of facial musculature, Type 1 fib... |
ORPHA:596 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Ataxia, Loss of ambulation, Neurodegeneration, Distal amyotrophy, Optic atrophy, Abnormal lower m... |
OMIM:614298 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Failure to thrive, Weight loss, Cachexia |
OMIM:612075 |
| Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Neuronal loss in central nervous system, Neurodegeneration, Optic atrophy, Cerebellar atrophy, Fa... |
OMIM:616239 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Failure to thrive |
OMIM:300934 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Brain atrophy, Flexion contracture, Small for gestational age, Joint contractu... |
OMIM:214150 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Brain atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Increased var... |
OMIM:164310 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Propionic Acidemia |
|
Hypoglycemia, Hepatomegaly, Cardiomyopathy |
ORPHA:35 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Optic atrophy, Congenital contracture, Respiratory distress, Neonatal respiratory distress |
OMIM:615042 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia, Hypox... |
ORPHA:2140 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... |
ORPHA:1303 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis |
OMIM:619466 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory insufficiency, Hand muscle atrophy, Cranial nerve motor loss, N... |
OMIM:211530 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Failure to thrive, Hypoxemia, Respiratory insufficiency, Interstitial pneum... |
OMIM:610913 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
OMIM:237310 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Sleep apnea, Hand muscle weakness, Decreased size of nerve terminals, Right... |
ORPHA:98915 |
| Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Ataxia, Decreased nerve conduction velocity, Axonal degeneration, Tendon xantho... |
ORPHA:909 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Failure to thrive, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Neon... |
OMIM:610921 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Axial muscle stiffness |
ORPHA:240085 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly |
ORPHA:664 |
| Gm2 Gangliosidosis, Ab Variant |
|
Postnatal growth retardation, Cerebral atrophy, Neurodegeneration, Short stature |
ORPHA:309246 |
| Multiple Carboxylase Deficiency |
|
Optic atrophy, Limb muscle weakness, Respiratory distress, Tachypnea |
ORPHA:148 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal muscle glycogen content, Abnormal neuron branching, Failure to thrive, Respiratory distr... |
ORPHA:367 |
| Familial Nasal Acilia |
|
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea |
ORPHA:922 |
| Myotonic Dystrophy 1 |
|
Facial diplegia, Respiratory distress, Cerebral atrophy |
OMIM:160900 |
| Hsd10 Disease, Infantile Type |
|
Loss of ambulation, Cerebral atrophy, Neurodegeneration, Optic atrophy, Diffuse cerebral atrophy,... |
ORPHA:391428 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency due to muscle weakness, Cerebr... |
OMIM:615512 |
| Episodic Ataxia Type 1 |
|
Respiratory distress, Calf muscle hypertrophy, Cerebellar atrophy |
ORPHA:37612 |
| Idiopathic Neonatal Atrial Flutter |
|
Large for gestational age, Respiratory distress, Tachypnea |
ORPHA:45452 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Nonproductive cough, Decreased ... |
ORPHA:79127 |
| Spinocerebellar Ataxia, X-Linked 3 |
|
Neuronal loss in central nervous system, Episodic respiratory distress, Episodic hypoventilation,... |
OMIM:301790 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia |
ORPHA:1423 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Muscle fiber necrosis, Decreased nerve conduction velocity, Peripheral hypo... |
OMIM:618733 |
| Laryngeal Web, Familial |
|
Respiratory distress, Stridor |
OMIM:150360 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... |
ORPHA:36238 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Endocardial fibroelastosis, Hypoglycemia, Impaired gluconeogenesis, Recurrent hypog... |
OMIM:212140 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Broad-based gait, Difficulty walking, Neurodegeneration, Gait disturbance |
ORPHA:79244 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Failure to thrive, Flexion contracture, Cerebellar atrophy |
ORPHA:544503 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Failure to thrive, Respiratory distress |
ORPHA:79312 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Choreoathetosis, Neurodegeneration, Hypomimic face |
OMIM:606159 |
| Kanzaki Disease |
|
Cerebral atrophy, Peripheral axonal neuropathy, Axonal degeneration |
OMIM:609242 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:600649 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... |
OMIM:262190 |
| Avian Influenza |
|
Respiratory distress, Nonproductive cough, Tachypnea, Cough, Rhabdomyolysis, Pneumothorax, Produc... |
ORPHA:454836 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cough, Pleural effusion, Pulmonary arterial ... |
ORPHA:2414 |
| Adrenoleukodystrophy |
|
Lower limb muscle weakness, Truncal ataxia, Neurodegeneration, Limb ataxia |
OMIM:300100 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Ataxia, Neurodegeneration |
OMIM:618476 |
| Acute Lung Injury |
|
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:178320 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Cerebellar atrophy |
ORPHA:89844 |
| Infantile Krabbe Disease |
|
Respiratory distress, Failure to thrive, Decreased nerve conduction velocity, Cachexia, Optic atr... |
ORPHA:206436 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Failure to thrive, Weakness of facial musculature, Optic atrophy, Increased... |
OMIM:220110 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Failure to thrive |
ORPHA:261304 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Cardiomegaly |
OMIM:618838 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... |
ORPHA:70588 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
| Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Neurodegeneration,... |
OMIM:146500 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebral atrophy, Dysmetria, Dysdiadochokinesis, Neurodegeneration, Optic atrophy, Gait ataxia, C... |
OMIM:610217 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, Brain atrophy, Aspiration pneumonia, Recurrent pneumonia, Hypoventil... |
ORPHA:314655 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Cerebral atrophy, Acute rhabdomyolysis, Neurodegeneration, Optic atrophy, Gait disturbanc... |
OMIM:616878 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Congenital Myasthenic Syndrome |
|
Muscle fiber atrophy, Episodic respiratory distress, Respiratory arrest, Central sleep apnea, EMG... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Muscle fiber atrophy, Episodic respiratory distress, Respiratory arrest, Central sleep apnea, EMG... |
ORPHA:98914 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Crackles, Wheezing, Tac... |
OMIM:610978 |
| Cerebral Visual Impairment |
|
Increased cup-to-disc ratio, Optic nerve hypoplasia, Neurodegeneration, Optic atrophy, Optic disc... |
ORPHA:447788 |
| Mucopolysaccharidosis, Type Ii |
|
Asthma, Airway obstruction, Sleep apnea, Macroglossia, Flexion contracture, Papilledema, Neurodeg... |
OMIM:309900 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Optic atrophy, Respiratory distress |
ORPHA:289916 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hepatomegaly, Splenomegaly |
OMIM:306000 |
| Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
| Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Failure to thrive, Apnea, Central hypoventilation, Optic atrophy, Respirato... |
ORPHA:70474 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia |
OMIM:606763 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Failure to thrive, Optic atrophy, Dyspnea, Respiratory failure |
ORPHA:2707 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Optic atrophy, Failure to thrive, Contractures of the large joints, Respiratory distress |
ORPHA:329178 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Centrally nucleated skeletal muscle fibers, Neonatal death, Myopathy |
OMIM:300219 |
| Primary Dystonia, Dyt4 Type |
|
Torticollis, Respiratory distress, Eunuchoid habitus |
ORPHA:98805 |
| Gm2-Gangliosidosis, Ab Variant |
|
Cerebral atrophy, Neurodegeneration, Aspiration |
OMIM:272750 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Weight loss, Tachypnea |
ORPHA:79242 |
| Oromandibular Dystonia |
|
Torticollis, Weight loss, Respiratory distress |
ORPHA:93958 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
| Moebius Syndrome |
|
Facial diplegia, Respiratory distress, Congenital fibrosis of extraocular muscles, Camptodactyly,... |
OMIM:157900 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Decreased muscle mass, Neurodegeneration, Optic atrophy, Gait disturbance, Chor... |
OMIM:234200 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Failure to thrive, Macroglossia, Left ventricular hypertrophy, Respiratory ... |
ORPHA:308552 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Respiratory distress, Macroglossia |
ORPHA:226313 |
| Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Small for gestational age, Exercise-induced rhabdomyoly... |
ORPHA:26793 |
| Slc35A1-Cdg |
|
Respiratory distress, Hypoxemia, Pneumonia |
ORPHA:238459 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Glycogen accumulation in muscle fiber lysosomes, Failure to thrive, Respiratory distress, Sleep a... |
ORPHA:365 |
| Tetanus |
|
Autonomic bladder dysfunction, Respiratory distress, Abnormal autonomic nervous system physiology... |
ORPHA:3299 |
| Farber Disease |
|
Respiratory distress, Failure to thrive, Brain atrophy, Flexion contracture, Respiratory insuffic... |
ORPHA:333 |
| Congenital Tracheomalacia |
|
Failure to thrive, Apnea, Tracheomalacia, Decreased peak expiratory flow, Respiratory insufficien... |
ORPHA:95430 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
| Glycogen Storage Disease Ixc |
|
Hypoglycemia, Hepatomegaly, Fasting hypoglycemia, Splenomegaly |
OMIM:613027 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
| Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Brain atrophy, Macroglossia, Flexion contracture, Optic atrophy, Recurrent ... |
OMIM:617303 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Failure to thrive, Apnea, Neonatal death, Tachypnea, Neonatal respiratory distress, Dyspnea, Pulm... |
OMIM:265120 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
ORPHA:927 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Cerebral atrophy, Left ventricular hypertrophy, Neurodegeneration, Gait ataxia |
OMIM:618321 |
| Cryptococcosis |
|
Respiratory distress, Cerebral cortical atrophy, Cough, Abnormal cranial nerve morphology, Limb m... |
ORPHA:1546 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
| Chediak-Higashi Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Neurodegeneration, Foot dorsiflexor weakness, Gait d... |
OMIM:214500 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Optic atrophy, Respiratory distress, Flexion contracture |
OMIM:619383 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Abnormal cranial nerve morphology |
ORPHA:990 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Cerebral atrophy, Flexion contracture, Recurrent pneumonia, Cerebellar atrophy |
OMIM:616271 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
| Nasolacrimal Duct Cyst |
|
Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea... |
ORPHA:141083 |
| Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Abnormal nasal mucus secretion, Chronic sinusitis, Upper ai... |
ORPHA:137914 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Dyspnea, Intermittent hyper... |
ORPHA:348 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Failure to thrive, Apnea, Cerebral atrophy, Flexion contracture, Increased ... |
ORPHA:17 |
| Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia |
OMIM:617180 |
| Biotinidase Deficiency |
|
Respiratory distress, Optic neuropathy, Apnea, Optic atrophy, Limb muscle weakness, Hyperventilation |
ORPHA:79241 |
| Mucopolysaccharidosis, Type Vii |
|
Airway obstruction, Macroglossia, Flexion contracture, Neurodegeneration, Loud snoring, Obstructi... |
OMIM:253220 |
| Tetrasomy 5P |
|
Respiratory distress, Failure to thrive, Aplasia/Hypoplasia of the abdominal wall musculature, Pu... |
ORPHA:3309 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Odontochondrodysplasia |
|
Respiratory distress |
ORPHA:166272 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Failure to thrive |
OMIM:251000 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Decreased body weight, Neonatal death, Arthrogryposis multiplex cong... |
OMIM:608013 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia, Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly |
OMIM:261740 |
| Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Paucity of anterior horn motor neurons, Respiratory ... |
ORPHA:79139 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Failure to thrive |
ORPHA:50810 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Congenital diaphragmatic hernia |
OMIM:606164 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Failure to thrive, Cerebral atrophy, Pulmonary embolism, Optic atrophy, Atr... |
ORPHA:79282 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Airway obstruction, Brain atrophy, Macroglossia, Flexion contracture, Optic... |
ORPHA:505248 |
| Complete Atrioventricular Septal Defect |
|
Failure to thrive, Pulmonary venous hypertension, Right ventricular hypertrophy, Crackles, Elevat... |
ORPHA:1329 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Macroglossia, Large for gestational age, Dyspnea, Pulmonary arterial hypert... |
ORPHA:363705 |
| Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Apnea, Left ventricular hypertrophy, O... |
ORPHA:79330 |
| Mgat2-Cdg |
|
Respiratory distress, Failure to thrive, Brain atrophy |
ORPHA:79329 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Failure to thrive, Episodic respiratory distress, Segmental peripheral demyelination/remye... |
ORPHA:255210 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Failure to thrive, Small for gestational age, Myocardial necrosis, Neonatal... |
OMIM:260400 |
| Restrictive Dermopathy 2 |
|
Respiratory distress |
OMIM:619793 |
| Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Tracheomalacia |
OMIM:156550 |
| Odontochondrodysplasia 1 |
|
Respiratory distress |
OMIM:184260 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Decreased body weight, Abnormal autonomic nervous system physiology, Severe... |
ORPHA:1051 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Failure to thrive, Asthma, Recurrent pneumonia, Neonatal respiratory distre... |
ORPHA:209905 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Failure to thrive |
OMIM:251110 |
| Hurler Syndrome |
|
Macroglossia, Neurodegeneration, Flexion contracture, Short stature |
OMIM:607014 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Failure to thrive, Apnea, Abnormal autonomic nervous system physiology, Asp... |
ORPHA:2131 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Respiratory insufficiency, Tracheomalacia |
OMIM:608022 |
| Pachyonychia Congenita |
|
Respiratory distress, Failure to thrive |
ORPHA:2309 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Failure to thrive in infancy |
OMIM:612852 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Failure to thrive |
OMIM:251100 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia |
OMIM:202650 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea, Myopathy |
OMIM:115197 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Neonatal death |
OMIM:231680 |
| Sepsis In Premature Infants |
|
Decreased body weight, Small for gestational age, Abnormal respiratory system physiology, Abnorma... |
ORPHA:90051 |
| Radio-Renal Syndrome |
|
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure |
ORPHA:3015 |
| Lymphatic Malformation 7 |
|
Respiratory distress |
OMIM:617300 |
| Nijmegen Breakage Syndrome |
|
Rhabdomyosarcoma, Intrauterine growth retardation, Neurodegeneration, Short stature |
OMIM:251260 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Optic atrophy, Respiratory distress |
ORPHA:1555 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Optic atrophy, Respiratory distress |
OMIM:123790 |
| Esophageal Atresia |
|
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... |
ORPHA:1199 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Myositis, Tachypnea, Pneumonia |
ORPHA:36234 |
| Nocardiosis |
|
Respiratory distress, Nonproductive cough, Pneumothorax, Productive cough, Pneumonia, Emphysema, ... |
ORPHA:31204 |
| Auriculocondylar Syndrome |
|
Respiratory distress, Snoring, Obstructive sleep apnea |
ORPHA:137888 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Tracheomalacia |
OMIM:217980 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia |
OMIM:613309 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Intrinsic hand muscle atrophy, Decreased body weight, Decreased sensory ner... |
OMIM:615273 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Cachexia, Interstitial pneumonitis, Myositis, Pneumonia, Failure to thrive ... |
ORPHA:37042 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress |
OMIM:612863 |
| Cocaine Intoxication |
|
Respiratory distress, Wheezing, Tachypnea, Rhabdomyolysis, Cough, Hyperventilation, Pneumothorax |
ORPHA:90068 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Failure to thrive, Joint contracture of the hand, Flexion contracture, Smal... |
OMIM:224690 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Multiple joint contractures, Respiratory distress, Tracheomalacia, Repeated pneumoth... |
ORPHA:536467 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Failure to thrive, Asthma, Pulmonary embolism, Cough, Pleural effusion, Dys... |
ORPHA:3260 |
| Q Fever |
|
Respiratory distress, Cough, Pleural effusion, Pneumonia, Weight loss |
ORPHA:781 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Facial hypotonia |
ORPHA:438216 |
| Adnp Syndrome |
|
Respiratory distress, Cerebral atrophy, Truncal obesity, Aspiration |
ORPHA:404448 |
| Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Inspiratory stridor |
ORPHA:100050 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Obesity, Cerebral cortical atrophy |
ORPHA:177907 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect |
OMIM:183900 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Decreased body weight, Cough, Respiratory failure, Pneumonia, Pleural effus... |
ORPHA:340 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Asthma, Flexion contracture of finger, Flexion contracture, Abnormal... |
ORPHA:3206 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Failure to thrive, Brain atrophy, Contracture of the distal interphalangeal... |
ORPHA:83617 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Weight loss, Restrictive ventilatory defect, Cough |
ORPHA:537 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure |
ORPHA:3342 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad-based gait, Failure to thrive, Ataxia, Decreased body weight, Intrauterine growth retardati... |
OMIM:619475 |
| Ethylene Glycol Poisoning |
|
Abnormal pattern of respiration, Facial palsy, Episodic respiratory distress, Tachypnea |
ORPHA:31826 |
| Renal Dysplasia-Limb Defects Syndrome |
|
Respiratory distress, Pneumothorax, Respiratory failure, Neonatal death |
OMIM:266910 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Aganglionic megacolon |
ORPHA:210122 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Rhinitis |
ORPHA:319213 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Failure to thrive, Camptodactyly of finger, Dyspnea, Respiratory failure |
ORPHA:2554 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
| Scimitar Syndrome |
|
Respiratory distress, Hypoplasia of the diaphragm, Cough, Abnormal hemidiaphragm morphology, Pneu... |
ORPHA:185 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress |
OMIM:300968 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Cerebral cortical atrophy, Macroglossia, Failure to thrive in infancy, Camp... |
ORPHA:798 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Lower limb amyotrophy, Neonatal respiratory distress, Optic atrophy, Recurr... |
OMIM:616268 |
| Campomelic Dysplasia |
|
Respiratory distress, Failure to thrive, Apnea, Tracheomalacia, Contracture of the distal interph... |
OMIM:114290 |
| Osteoglophonic Dysplasia |
|
Respiratory distress, Failure to thrive |
OMIM:166250 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress |
OMIM:274150 |
| Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Failure to thrive, Stridor, Pneumonia, Pneumothorax, Dyspnea, Respiratory f... |
ORPHA:79404 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Failure to thrive, Congenital diaphragmatic hernia, Dyspnea, Respiratory fa... |
ORPHA:2556 |
| Listeriosis |
|
Respiratory distress, Rhabdomyolysis, Respiratory failure, Pneumonia |
ORPHA:533 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Upper airway obstruction, Dyspnea |
ORPHA:141127 |
| Coccidioidomycosis |
|
Respiratory distress, Pleural empyema, Cough, Pneumonia, Exudative pleural effusion |
ORPHA:228123 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Failure to thrive, Flexion contracture, Small for gestational age, Truncal ... |
OMIM:180849 |
| Leptospirosis |
|
Respiratory distress, Papilledema, Cough, Rhabdomyolysis, Pleural effusion |
ORPHA:509 |
| Gitelman Syndrome |
|
Rhabdomyolysis, Failure to thrive, Respiratory distress |
ORPHA:358 |
| Aortic Arch Interruption |
|
Respiratory distress, Left ventricular hypertrophy, Exertional dyspnea, Tachypnea |
ORPHA:2299 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Carcinoid tumor, Pheochromocytoma, Pancreatic endocrine tumor, Respiratory ... |
ORPHA:805 |
| Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Obesity, Asthma, Nasal flaring |
ORPHA:466943 |
| Primrose Syndrome |
|
Hip contracture, Ataxia, Flexion contracture, Short stature, Neurodegeneration, Truncal obesity, ... |
OMIM:259050 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Failure to thrive, Congenital diaphragmatic hernia, Small for gestational age |
ORPHA:2255 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis |
OMIM:305100 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea |
ORPHA:2330 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Failure to thrive |
OMIM:306955 |
| Eisenmenger Syndrome |
|
Respiratory distress, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hypertension, I... |
ORPHA:97214 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Brain atrophy |
ORPHA:480880 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Chronic lung disease, Respiratory failure requiring assisted ventilation, C... |
ORPHA:95455 |
| Doors Syndrome |
|
Optic atrophy, Aspiration pneumonia, Respiratory distress |
ORPHA:79500 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Respiratory acidosis, Neonatal respiratory distress |
OMIM:614748 |
| 8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Optic nerve hypoplasia, Global brain atrophy, Small for gestational age |
ORPHA:508488 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Pulmonary arterial hypertension, Myocardial calcification, Failure to thriv... |
ORPHA:51608 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress |
OMIM:617088 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Paroxysmal dyspnea, Apneic episodes in infancy, Respiratory failure requiri... |
ORPHA:99125 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Failure to thrive, Multiple joint contractures, Recurrent pneumonia |
ORPHA:99646 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Pneumothorax, Respiratory failure |
ORPHA:3404 |
| Plague |
|
Respiratory distress, Acute infectious pneumonia |
ORPHA:707 |
| Alström Syndrome |
|
Respiratory distress, Chronic pulmonary obstruction, Truncal obesity, Recurrent sinusitis, Optic ... |
ORPHA:64 |
| Pmm2-Cdg |
|
Aspiration pneumonia, Failure to thrive, Multiple joint contractures, Respiratory distress |
ORPHA:79318 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Cerebral atrophy |
ORPHA:88616 |
