Adrenal Hypoplasia, Cytomegalic Type |
|
Primary adrenal insufficiency, Congenital adrenal hypoplasia |
OMIM:202155 |
Isolated Anencephaly/Exencephaly |
|
Primary adrenal insufficiency |
ORPHA:1048 |
Hyperthyroxinemia, Familial Dysalbuminemic |
|
Euthyroid hyperthyroxinemia |
OMIM:615999 |
Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypothyroidism |
OMIM:262700 |
Hypersecretion Of Adrenal Androgens, Familial |
|
Adrenal overactivity, Premature pubarche, Increased circulating androgen concentration |
OMIM:145295 |
Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Neonatal death |
OMIM:611369 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Respiratory failure |
OMIM:208081 |
Adrenocortical Hypofunction, Chronic Primary Congenital |
|
Adrenal insufficiency, Decreased circulating cortisol level |
OMIM:103230 |
Thyroid Dyshormonogenesis 6 |
|
Hypothyroidism, Congenital hypothyroidism |
OMIM:607200 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... |
ORPHA:90117 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Death in childhood, Respiratory failure |
OMIM:253300 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... |
OMIM:262600 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... |
ORPHA:266 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Adrenal insufficiency |
OMIM:619025 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess |
OMIM:613743 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Graves disease, Primary adrenal insufficien... |
ORPHA:3143 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Adrenal insufficiency, Central adrenal insufficiency, Delayed puberty, Hypogonadism |
OMIM:612079 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Fatigable weakness of swallowing muscles, Xerostomia, Abnormal res... |
ORPHA:803 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Neonatal death, Abnormal anterior horn cell morphology, R... |
OMIM:611890 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure |
OMIM:616081 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Respiratory failure, Pancreatitis, Death in infancy |
OMIM:619386 |
Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy |
OMIM:615348 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Polymicrogyria |
OMIM:618291 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:605115 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Immunodeficiency 54 |
|
Adrenal insufficiency, Respiratory insufficiency, Adrenocorticotropic hormone excess, Respiratory... |
OMIM:609981 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:605711 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Prolonged miniature endplate currents, Respiratory insufficiency, Decreased miniature endplate po... |
OMIM:616321 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Fatigable weakness of neck muscles, Reduced vital capacity, Orthopnea, Restrictive ventilatory de... |
ORPHA:98913 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:228940 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy |
OMIM:225753 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in childhood, Respiratory insufficiency, Neonatal death, Death in infancy, Neonatal respira... |
OMIM:245400 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect |
OMIM:614399 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Recurrent aspiration pneumonia, Respiratory failure, Resp... |
ORPHA:2590 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Respiratory failure, Fatigable weakness of skeletal muscles |
ORPHA:370968 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
OMIM:300200 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Respiratory failure |
OMIM:613435 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress |
OMIM:619057 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... |
ORPHA:254875 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Respiratory failure, Death in infancy |
OMIM:616277 |
Pseudohypoaldosteronism, Type Iia |
|
Pseudohypoaldosteronism |
OMIM:145260 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in childhood, Respiratory failure, Neonatal death, Death in infancy |
OMIM:619334 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Apnea, Central sleep apnea, Neonatal respiratory distress, Pachygyria, Respiratory failure |
ORPHA:168486 |
Triple A Syndrome |
|
Adrenal insufficiency, Respiratory insufficiency, Anterior hypopituitarism |
ORPHA:869 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... |
ORPHA:36238 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Respiratory failure, Death in infancy |
OMIM:617248 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Respiratory failure, Death in infancy |
OMIM:614299 |
Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Adrenal hypoplasia, Apnea |
OMIM:240200 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Pneumocystosis |
|
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... |
ORPHA:723 |
Asbestos Intoxication |
|
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Wheezing... |
ORPHA:2302 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma |
OMIM:300270 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Cough, Tachypnea |
OMIM:263000 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dyspnea, Pulmo... |
OMIM:265120 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71526 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Respiratory failure |
OMIM:313420 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Degeneration of anterior horn cells, Tachypnea, Inspiratory stridor, Ventilator dependence with i... |
OMIM:604320 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... |
OMIM:608647 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
8P23.1 Duplication Syndrome |
|
Adrenal insufficiency |
ORPHA:251076 |
Acute Lung Injury |
|
Respiratory distress, Tachypnea, Acute pancreatitis, Pneumonia, Hypoxemia, Dyspnea, Respiratory f... |
ORPHA:178320 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Respiratory failure, Polymicrogyria |
OMIM:615330 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal blood gas level, Pancreatitis, Diabetic ketoacidosis, Pneumonia, Hypoxemia, Dyspnea, Res... |
ORPHA:70578 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Death in infancy, Neona... |
OMIM:610921 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Adrenal insufficiency |
OMIM:618238 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Central hypoventilation, Apnea, Respiratory failure |
OMIM:619483 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure, Abnormal cortical gyration |
OMIM:616867 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure |
OMIM:613954 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Primary adrenal insufficiency, Hypogonadism |
OMIM:617872 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... |
OMIM:610913 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Hypergonadotropic hypogonadism, Dyspnea, Respiratory failure, Respiratory insufficiency due to mu... |
ORPHA:352447 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... |
ORPHA:3453 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productiv... |
ORPHA:454836 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Adrenocortical hypoplasia |
OMIM:307030 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Stillbirth, Respiratory failure |
OMIM:276950 |
Pseudohypoaldosteronism, Type Iib |
|
Pseudohypoaldosteronism |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Pseudohypoaldosteronism |
OMIM:614495 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Death in infancy, Polymicrogyria |
OMIM:610678 |
Non-Functioning Pituitary Adenoma |
|
Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Abnormality of the pitui... |
ORPHA:91349 |
Respiratory Underresponsiveness To Hypoxia And Hypercapnia |
|
Respiratory insufficiency, Respiratory failure, Hypercapnia |
OMIM:267480 |
Scedosporiosis |
|
Sinusitis, Pleural empyema, Cough, Pneumonia, Diabetes mellitus, Abnormal respiratory system phys... |
ORPHA:449280 |
Peripartum Cardiomyopathy |
|
Asthma, Paroxysmal dyspnea, Crackles, Orthopnea, Pulmonary arterial hypertension, Diabetes mellit... |
ORPHA:563 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Central sleep apnea, Obstructive sleep apnea |
ORPHA:70472 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, Increased circ... |
OMIM:177735 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Central hypoventilation, Apnea, Respiratory failure |
OMIM:618233 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism |
OMIM:264350 |
Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... |
OMIM:618695 |
Leigh Syndrome |
|
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure |
OMIM:256000 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Nonproductive cough, Crackles, Decreased DLCO, Tachypnea, Pleural effusion, Bronchiect... |
ORPHA:79126 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Fatigable weakness of neck muscles, Gray matter heterotopia, Acute pancreatitis, Restrictive vent... |
ORPHA:26791 |
Infant Acute Respiratory Distress Syndrome |
|
Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
X-Linked Adrenoleukodystrophy |
|
Adrenal insufficiency, Increased circulating ACTH level, Abnormality of adrenal physiology |
ORPHA:43 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Respiratory failure |
ORPHA:363400 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:618114 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Decreased circulating aldost... |
OMIM:240300 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration, Primary adrenal insufficiency |
ORPHA:44 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Nocturnal hypoventilation, Respiratory failure, Reduced vital capacity |
OMIM:603689 |
Brain-Lung-Thyroid Syndrome |
|
Hypoparathyroidism, Respiratory distress, Asthma, Abnormality of the thyroid gland, Thyroid dysge... |
ORPHA:209905 |
Pseudohypoaldosteronism, Type Iic |
|
Pseudohypoaldosteronism |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Pseudohypoaldosteronism |
OMIM:614496 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory insufficiency, Respiratory failure |
OMIM:273730 |
Immunodeficiency, Common Variable, 10 |
|
Asthma, Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abn... |
OMIM:615577 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Wolman Disease |
|
Adrenal insufficiency, Adrenal calcification |
ORPHA:75233 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure, Diabetes mellitus |
OMIM:613845 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Cough, Restrictive ventilatory defect, Dyspnea, Respiratory failure |
ORPHA:99931 |
Snakebite Envenomation |
|
Epistaxis, Hypopituitarism, Respiratory failure, Respiratory paralysis |
ORPHA:449285 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Intercostal muscle weakness, Respiratory failure, Obstructive sleep apnea |
OMIM:606071 |
Ane Syndrome |
|
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... |
ORPHA:157954 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Death in childhood, Respiratory failure, Tachypnea |
OMIM:615838 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating gonadotropin level, Decreased circulating aldosterone level, Precocious pub... |
ORPHA:90793 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Hypothyroidism, Hypogonadism |
OMIM:617575 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory failure, Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency d... |
OMIM:310200 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal i... |
ORPHA:199296 |
Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Nonproductive cough, Respiratory insufficiency, Fatigable weakne... |
ORPHA:60025 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Respiratory failure, Death in infancy |
ORPHA:1194 |
Aa Amyloidosis |
|
Adrenal insufficiency, Hypothyroidism |
ORPHA:85445 |
Flynn-Aird Syndrome |
|
Primary adrenal insufficiency, Abnormality of the thyroid gland, Type II diabetes mellitus |
ORPHA:2047 |
Metatropic Dysplasia |
|
Respiratory insufficiency, Respiratory failure |
OMIM:156530 |
Xp21 Deletion Syndrome |
|
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Apneic episo... |
ORPHA:261476 |
Primary Ciliary Dyskinesia |
|
Airway obstruction, Wheezing, Chronic rhinitis, Chronic sinusitis, Productive cough, Neonatal res... |
ORPHA:244 |
Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
ORPHA:361 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Respiratory insufficiency, Polymicrogyria, Death in infancy, Neonatal respiratory distress... |
OMIM:608836 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory insufficiency, Respiratory failure |
OMIM:135100 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure |
ORPHA:444013 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Death in infancy |
OMIM:614862 |
Poems Syndrome |
|
Abnormality of the endocrine system, Increased circulating prolactin concentration, Primary adren... |
ORPHA:2905 |
Proximal Spinal Muscular Atrophy |
|
Recurrent aspiration pneumonia, Restrictive ventilatory defect, Hypoventilation, Neonatal respira... |
ORPHA:70 |
3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, Pneumothorax, Respiratory failure |
ORPHA:445038 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Perisylvian polymicrogyria, Decreased circulating T4 concentration, Precocious puberty, Central a... |
ORPHA:98754 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Death in childhood, Exertional dyspnea, Respiratory failure, Respiratory in... |
OMIM:220110 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... |
OMIM:610600 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Respiratory insufficiency, Death in adolescence, Death in infancy, Respirat... |
OMIM:615512 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Perisylvian polymicrogyria, Decreased circulating T4 concentration, Precocious puberty, Central a... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Perisylvian polymicrogyria, Decreased circulating T4 concentration, Precocious puberty, Central a... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Perisylvian polymicrogyria, Decreased circulating T4 concentration, Precocious puberty, Central a... |
ORPHA:177901 |
Niemann-Pick Disease, Type C2 |
|
Respiratory insufficiency, Death in childhood, Death in infancy, Neonatal respiratory distress, R... |
OMIM:607625 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism |
ORPHA:300298 |
Peroxisome Biogenesis Disorder 2B |
|
Adrenal insufficiency |
OMIM:202370 |
Zellweger Syndrome |
|
Primary adrenal insufficiency, Respiratory insufficiency, Death in infancy, Polymicrogyria |
ORPHA:912 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Diabetes mellitus, Pulmonary arterial ... |
ORPHA:231222 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure |
OMIM:616505 |
Nephronophthisis 2 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:602088 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Myasthenia Gravis |
|
Hyperthyroidism, Primary adrenal insufficiency, Abnormality of the thymus, Hashimoto thyroiditis,... |
ORPHA:589 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Death in infancy, Adrenal calcification |
OMIM:278000 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Respiratory insufficiency, Respiratory failure |
ORPHA:746 |
Prader-Willi-Like Syndrome |
|
Perisylvian polymicrogyria, Abnormality of the endocrine system, Precocious puberty, Decreased ci... |
ORPHA:398073 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Diabetes mellitus, Dy... |
ORPHA:231226 |
Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... |
ORPHA:556037 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Death in childhood, Respiratory failure |
OMIM:619847 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
Prolactinoma |
|
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Elevated circulating ... |
ORPHA:2965 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Respiratory failure, Pneumonia |
ORPHA:98905 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Respiratory failure, Pleural effusion, Tachypnea |
ORPHA:542323 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Death in childhood, Bradypnea, Respiratory failure |
OMIM:617186 |
Adenohypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95512 |
Familial Hypoaldosteronism |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Increased circulating renin level |
ORPHA:427 |
Panhypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95513 |
Distal Monosomy 13Q |
|
Primary adrenal insufficiency |
ORPHA:1590 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Pachygyria, Respiratory insufficiency, Lissencephaly, Aspiration, Hypoventilation, Intercostal mu... |
ORPHA:258 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... |
ORPHA:90791 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:177200 |
Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... |
ORPHA:556030 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency |
ORPHA:977 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Agyria, Respiratory failure, Polymicrogyria |
OMIM:616538 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Macrogyria |
ORPHA:280210 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure |
ORPHA:3226 |
Prader-Willi Syndrome |
|
Perisylvian polymicrogyria, Precocious puberty, Central adrenal insufficiency, Small pituitary gl... |
ORPHA:739 |
Sheehan Syndrome |
|
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... |
ORPHA:91355 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Diabetes mellitus, Dy... |
ORPHA:231214 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory insufficiency, Respiratory failure requiring assisted ventilati... |
ORPHA:308552 |
Nocardiosis |
|
Respiratory distress, Nonproductive cough, Abnormality of the adrenal glands, Pneumothorax, Produ... |
ORPHA:31204 |
Alacrima, Achalasia, And Mental Retardation Syndrome |
|
Adrenal insufficiency, Hypohidrosis, Neonatal respiratory distress |
OMIM:615510 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Apnea, Respiratory failure, Central hypoventilation |
ORPHA:70474 |
Renal Dysplasia-Limb Defects Syndrome |
|
Respiratory distress, Maternal diabetes, Neonatal death, Pneumothorax, Respiratory failure |
OMIM:266910 |
Poliomyelitis |
|
Fatigable weakness of respiratory muscles, Respiratory failure, Respiratory failure requiring ass... |
ORPHA:2912 |
Craniopharyngioma |
|
Sleep apnea, Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, ... |
ORPHA:54595 |
Boutonneuse Fever |
|
Respiratory failure |
ORPHA:83313 |
Corticosterone Methyloxidase Type I Deficiency |
|
Decreased circulating aldosterone level, Increased circulating renin level |
OMIM:203400 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Primary adrenal insufficiency, Diabetes mellitus |
OMIM:530000 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Sleep apnea, Precocious puberty, Type II diabetes mellitus, Hyperinsulinem... |
OMIM:176270 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Sleep apnea, Respiratory insufficiency, Orthopnea, Fatigable weakness of sw... |
ORPHA:365 |
Tsh-Secreting Pituitary Adenoma |
|
Central adrenal insufficiency, Increased circulating prolactin concentration, Euthyroid hyperthyr... |
ORPHA:91347 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Respiratory failure |
OMIM:609015 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171430 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Hypothyro... |
OMIM:269200 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Sleep apnea, Pneumonia |
OMIM:617809 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Aspiration pneumonia, Adrenal insufficiency |
OMIM:617053 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anterior hypopituita... |
ORPHA:91350 |
Adrenomyeloneuropathy |
|
Adrenal insufficiency, Primary adrenal insufficiency, Adrenocorticotropic hormone excess, Adrenoc... |
ORPHA:139399 |
Adrenoleukodystrophy |
|
Primary adrenal insufficiency, Hypogonadism |
OMIM:300100 |
Radio-Renal Syndrome |
|
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure |
ORPHA:3015 |
Congenital Fiber-Type Disproportion Myopathy |
|
Weakness of muscles of respiration, Aspiration pneumonia, Hypercapnia, Fatigable weakness of bulb... |
ORPHA:2020 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:218030 |
Steinert Myotonic Dystrophy |
|
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... |
ORPHA:273 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Respiratory insufficiency, Death in childhood, Respiratory failure |
OMIM:610505 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea |
ORPHA:555874 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te... |
ORPHA:293978 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure |
ORPHA:3240 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure, Recurrent pneumonia, Respiratory failure requiring assisted ventilation |
ORPHA:496641 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin... |
ORPHA:289548 |
Addison Disease |
|
Hypoparathyroidism, Thymoma, Decreased circulating aldosterone level, Decreased circulating corti... |
ORPHA:85138 |
Carney Triad |
|
Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Adrenal overactivity |
ORPHA:139411 |
Tbck-Related Intellectual Disability Syndrome |
|
Asthma, Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Hyp... |
ORPHA:488632 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure |
ORPHA:88618 |
Otopalatodigital Syndrome, Type Ii |
|
Respiratory insufficiency, Stillbirth, Respiratory failure |
OMIM:304120 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618329 |
Riddle Syndrome |
|
Recurrent sinusitis, Chronic sinusitis, Recurrent pneumonia, Restrictive ventilatory defect, Pneu... |
ORPHA:420741 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin... |
ORPHA:168558 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Apnea, Respiratory failure |
OMIM:617301 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Increased serum testosterone level, Decreased circulating a... |
ORPHA:90794 |
Leigh Syndrome |
|
Abnormal pattern of respiration, Respiratory failure |
ORPHA:506 |
Osteopetrosis, Autosomal Recessive 5 |
|
Stillbirth, Respiratory failure |
OMIM:259720 |
Acute Adrenal Insufficiency |
|
Decreased circulating aldosterone level, Decreased circulating cortisol level, Increased circulat... |
ORPHA:95409 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating cortisol level, Decreased circulating aldosterone level, Adrenocorticotropi... |
OMIM:231550 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Elevated serum 11-de... |
OMIM:202010 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Graves disease, Pituitary adenoma, De... |
ORPHA:199299 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure |
ORPHA:3342 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Cough, Respiratory failure, Pneumonia, Pleural effusion, Dyspnea, Epistaxis... |
ORPHA:340 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory insufficiency, Death in childhood, Respiratory failure, Tachypnea |
OMIM:618278 |
46,Xy Partial Gonadal Dysgenesis |
|
Adrenal insufficiency, Decreased serum testosterone concentration, Streak ovary, Hypergonadotropi... |
ORPHA:251510 |
Malignant Atrophic Papulosis |
|
Respiratory failure, Pleural effusion |
ORPHA:679 |
Peroxisome Biogenesis Disorder 4B |
|
Adrenal insufficiency |
OMIM:614863 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Apnea, Respiratory insufficiency, Respiratory failure, Death in infancy |
OMIM:252010 |
Bloom Syndrome |
|
Chronic pulmonary obstruction, Pneumonia, Diabetes mellitus, Rhinitis, Respiratory failure |
ORPHA:125 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Decreased circulating cortisol level, Primary adrenal insufficiency, Male hypogonadism |
ORPHA:139396 |
Bickerstaff Brainstem Encephalitis |
|
Hypercapnia, Respiratory failure requiring assisted ventilation, Pneumonia, Dyspnea, Respiratory ... |
ORPHA:79138 |
Abetalipoproteinemia |
|
Hypothyroidism, Respiratory failure |
ORPHA:14 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Decreased circulating aldosterone level, Abnormality of circul... |
ORPHA:320 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure |
ORPHA:254528 |
Generalized Glucocorticoid Resistance Syndrome |
|
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... |
ORPHA:786 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Decreased response to growth hormone stimulation test, Central adrenal insufficiency |
OMIM:616007 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Pituitary adenoma, Parathyroid adenoma, Carcinoid tumor, Pheochromocytoma, ... |
ORPHA:805 |
Listeriosis |
|
Respiratory distress, Miscarriage, Respiratory failure, Pneumonia |
ORPHA:533 |
Lethal Acantholytic Erosive Disorder |
|
Respiratory failure |
ORPHA:158687 |
Pearson Syndrome |
|
Hypoparathyroidism, Adrenal insufficiency, Exocrine pancreatic insufficiency, Decreased response ... |
ORPHA:699 |
Short Rib-Polydactyly Syndrome |
|
Respiratory failure |
ORPHA:1505 |
Acute Liver Failure |
|
Adrenal insufficiency, Abnormal pattern of respiration, Hyperventilation, Abnormal respiratory sy... |
ORPHA:90062 |
Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration, Respiratory failure, Recurrent pneumonia |
ORPHA:647 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Respiratory failure, Death in infancy |
OMIM:300868 |
D-Bifunctional Protein Deficiency |
|
Primary adrenal insufficiency, Polymicrogyria |
OMIM:261515 |
Crimean-Congo Hemorrhagic Fever |
|
Adrenal insufficiency, Orchitis, Inappropriate antidiuretic hormone secretion, Hemothorax, Hyperh... |
ORPHA:99827 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory insufficiency, Cough, Tachypnea, Emphysema, Respiratory failure |
OMIM:613658 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Stridor, Pneumonia, Pneumothorax, Dyspnea, Respiratory failure |
ORPHA:79404 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, Lissencephaly, Restrictive ventilatory defect, Pulmonary arterial hypertension, Resp... |
ORPHA:96334 |
Myhre Syndrome |
|
Respiratory insufficiency, Respiratory failure |
OMIM:139210 |
Costello Syndrome |
|
Tracheomalacia, Respiratory insufficiency, Pneumothorax, Respiratory failure, Obstructive sleep a... |
OMIM:218040 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2556 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Primary adrenal insufficiency, Pulmonary arterial hypertension |
ORPHA:275761 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Abnormal calcium-phosphate regulating hormone level, Respiratory failure |
ORPHA:2636 |
Autosomal Recessive Polycystic Kidney Disease |
|
Spontaneous pneumothorax, Respiratory failure, Recurrent pneumonia, Hypoventilation |
ORPHA:731 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Tracheomalacia, Hypoth... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Tracheomalacia, Hypoth... |
ORPHA:363958 |
Niemann-Pick Disease Type C |
|
Aspiration pneumonia, Respiratory insufficiency, Respiratory failure |
ORPHA:646 |
Pallister-Hall Syndrome |
|
Adrenocorticotropic hormone deficiency, Precocious puberty, Abnormal prolactin level, Central adr... |
ORPHA:672 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Simplified gyral pattern, Respiratory failure, Polymicrogyria, Emphysema |
ORPHA:500150 |
Microphthalmia, Syndromic 2 |
|
Adrenal insufficiency, Hypothyroidism |
OMIM:300166 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Pneumothorax, Maternal diabetes, Respiratory failure |
ORPHA:3404 |
Orofaciodigital Syndrome Type 4 |
|
Primary adrenal insufficiency |
ORPHA:2753 |