Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency |
OMIM:262700 |
Isolated Anencephaly/Exencephaly |
|
Primary adrenal insufficiency |
ORPHA:1048 |
Thyroid Dyshormonogenesis 6 |
|
Hypothyroidism, Congenital hypothyroidism |
OMIM:607200 |
Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:253300 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in adolescence |
OMIM:300717 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure, Simplified gyral pattern |
OMIM:618328 |
Glucocorticoid Deficiency 3 |
|
Increased circulating ACTH level, Abnormal circulating renin, Decreased circulating cortisol leve... |
OMIM:609197 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy |
OMIM:611722 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:616081 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperaldosteronism, Adrenocorticotropic hormone excess, Adrenal insufficiency |
OMIM:613743 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:605115 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory insufficiency, Respiratory failure, Death in infancy |
OMIM:613869 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Adrenal insufficiency |
OMIM:619025 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Graves disease, Hashimoto thyroiditis, Primary adrenal insufficiency, Abnorma... |
ORPHA:3143 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Fatiguable weakness of p... |
ORPHA:90117 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Respiratory insuf... |
OMIM:611890 |
Hereditary Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Pancreatitis, Adrenal insufficiency, Death in infancy |
OMIM:619386 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... |
OMIM:262600 |
Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy |
OMIM:615348 |
Immunodeficiency 54 |
|
Respiratory insufficiency, Respiratory failure, Adrenocorticotropic hormone excess, Adrenal insuf... |
OMIM:609981 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory insufficiency, Respiratory failure |
ORPHA:266 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Respiratory failure, Fatigable weakness of skeletal muscles |
ORPHA:370968 |
Adrenal Hypoplasia, Congenital |
|
Delayed puberty, Adrenal hypoplasia, Precocious puberty, Absence of pubertal development, Primary... |
OMIM:300200 |
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, Death in infancy, Neonatal death, Hyperhidrosis, R... |
OMIM:245400 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Decreased growth hormone responses to grow... |
OMIM:609734 |
Amyotrophic Lateral Sclerosis 28 |
|
Respiratory failure |
OMIM:620452 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Abnormal lower motor neuro... |
ORPHA:2590 |
Pseudohypoaldosteronism, Type Iia |
|
Pseudohypoaldosteronism |
OMIM:145260 |
Immunodeficiency 95 |
|
Respiratory failure |
OMIM:619773 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Congenital Myopathy 14 |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in infancy |
OMIM:618414 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure, Amyotrophic lateral sclerosis |
OMIM:613435 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Death in childhood, Neonatal death, Death in infancy |
OMIM:619334 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Respiratory failure |
OMIM:614399 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
Triple A Syndrome |
|
Respiratory insufficiency, Anterior hypopituitarism, Adrenal insufficiency |
ORPHA:869 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Neonatal respiratory distress |
OMIM:619057 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure |
ORPHA:1832 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Respiratory failure, Ventilator dependence with inability to wean, Res... |
ORPHA:254875 |
8P23.1 Duplication Syndrome |
|
Adrenal insufficiency |
ORPHA:251076 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Pituita... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Pituita... |
ORPHA:71526 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Respiratory failure, Death in infancy |
OMIM:616277 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Respiratory failure |
OMIM:313420 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Respiratory failure, Fatigable weakness of respiratory muscles, Decreased miniature endplate pote... |
ORPHA:98913 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Respiratory failure, Neonatal respiratory distress, Abnormal cortical gyration |
OMIM:616867 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Abnormality of adrenal physiology |
OMIM:300858 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Adrenal insufficiency |
OMIM:618238 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Amyotrophic Lateral Sclerosis |
|
Fatigable weakness of respiratory muscles, Fatigable weakness of bulbar muscles, Motor neuron atr... |
ORPHA:803 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Respiratory failure, Polymicrogyria |
OMIM:615330 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Respiratory failure, Neonatal respiratory distress, Pachygyria |
ORPHA:168486 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Autoimmune Polyendocrinopathy Type 1 |
|
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... |
ORPHA:3453 |
Pseudohypoaldosteronism, Type Iib |
|
Pseudohypoaldosteronism |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Pseudohypoaldosteronism |
OMIM:614495 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Degeneration of anterior horn cells, Respiratory failure, Ventilator dependence with inability to... |
OMIM:604320 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Respiratory failure, Hyperhidrosis, Death in infancy |
OMIM:614299 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:276950 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure, Polymicrogyria |
OMIM:610678 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Stillbirth, Death in childhood, Death in infancy, Neonatal death, Pachygyria, Respiratory failure |
OMIM:614922 |
Non-Functioning Pituitary Adenoma |
|
Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Adrenal insufficiency, Decrease... |
ORPHA:91349 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal insufficiency, Hy... |
OMIM:617872 |
Pontocerebellar Hypoplasia Type 1 |
|
Degeneration of anterior horn cells, Respiratory failure |
ORPHA:2254 |
Hypoadrenocorticism, Familial |
|
Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Hypergonadotropic hypogona... |
ORPHA:352447 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperactive renin-angiotensin system, Hyperaldosteronism, Pseudohypoaldosteronism |
OMIM:264350 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Pseu... |
OMIM:177735 |
Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
X-Linked Adrenoleukodystrophy |
|
Increased circulating ACTH level, Abnormality of adrenal physiology, Adrenal insufficiency |
ORPHA:43 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:618186 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:618126 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Respiratory failure, Pachygyria |
OMIM:606612 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Respiratory failure, Neonatal death, Death in infancy |
OMIM:605711 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure, Hyperinsulinemia |
ORPHA:363400 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure |
OMIM:312170 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Delayed puberty, Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland |
OMIM:612079 |
Neonatal Adrenoleukodystrophy |
|
Primary adrenal insufficiency, Abnormality of neuronal migration |
ORPHA:44 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure |
ORPHA:70472 |
Ullrich Congenital Muscular Dystrophy |
|
Respiratory failure |
ORPHA:75840 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Acute pancreatitis, Gray matter heterotopia, Cardiorespiratory arrest, Respiratory failure, Fatig... |
ORPHA:26791 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Female hypogonadism, Hypothyroidism, Primary adrenal insufficiency, Decreased... |
OMIM:240300 |
Pseudohypoaldosteronism, Type Iie |
|
Pseudohypoaldosteronism |
OMIM:614496 |
Leigh Syndrome |
|
Respiratory insufficiency, Respiratory failure |
OMIM:256000 |
Wolman Disease |
|
Adrenal calcification, Adrenal insufficiency |
ORPHA:75233 |
Ane Syndrome |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo... |
ORPHA:157954 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory failure, Neonatal respiratory distress, Respiratory insufficiency due to defective ci... |
OMIM:608647 |
Congenital Isolated Acth Deficiency |
|
Adrenal hypoplasia, Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal i... |
ORPHA:199296 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Increas... |
ORPHA:90793 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure |
OMIM:619483 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Adrenocorticotropin receptor defect, Decreased circulating cortisol level, Decreased circulating ... |
OMIM:231550 |
Adult Acute Respiratory Distress Syndrome |
|
Diabetic ketoacidosis, Respiratory failure, Pancreatitis |
ORPHA:70578 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Respiratory failure, Neonatal respiratory distress, Neonatal death, Death in infancy |
OMIM:265120 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory failure, Type I diabetes mellitus |
OMIM:620166 |
Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Perisylvian polymicrogyria, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
Snakebite Envenomation |
|
Hypopituitarism, Respiratory failure |
ORPHA:449285 |
Pseudohypoaldosteronism, Type Iic |
|
Decreased circulating renin level, Pseudohypoaldosteronism |
OMIM:614492 |
Aa Amyloidosis |
|
Hypothyroidism, Adrenal insufficiency |
ORPHA:85445 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Respiratory failure, Death in infancy |
ORPHA:1194 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Congenital hypothyroidism, Precocious... |
ORPHA:361 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:177200 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory failure |
OMIM:263000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Death in childhood |
OMIM:615838 |
Flynn-Aird Syndrome |
|
Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland |
ORPHA:2047 |
Acute Lung Injury |
|
Respiratory failure, Acute pancreatitis |
ORPHA:178320 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Respiratory failure |
OMIM:620326 |
Metatropic Dysplasia |
|
Respiratory insufficiency, Respiratory failure |
OMIM:156530 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Respiratory failure |
OMIM:250940 |
Reni Syndrome |
|
Hypothyroidism, Hypogonadism, Adrenal insufficiency |
OMIM:617575 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Respiratory failure, Diabetes mellitus |
OMIM:613845 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Decr... |
OMIM:610600 |
Brain-Lung-Thyroid Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Thyroid hemia... |
ORPHA:209905 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficiency |
ORPHA:723 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Respiratory insufficiency, Polymicrogyria, Death in infancy, Abnormality of neuronal migration, R... |
OMIM:608836 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure |
OMIM:616505 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Respiratory failure |
OMIM:603689 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
Peroxisome Biogenesis Disorder 2B |
|
Adrenal insufficiency |
OMIM:202370 |
Nephronophthisis 2 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:602088 |
Niemann-Pick Disease, Type C2 |
|
Death in childhood, Respiratory insufficiency, Death in infancy, Respiratory failure, Neonatal re... |
OMIM:607625 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure |
OMIM:618233 |
3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, Respiratory failure |
ORPHA:445038 |
Zellweger Syndrome |
|
Respiratory insufficiency, Polymicrogyria, Primary adrenal insufficiency, Death in infancy |
ORPHA:912 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure |
ORPHA:2759 |
Panhypophysitis |
|
Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hypothyroidism... |
ORPHA:95513 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory insufficiency, Respiratory failure |
OMIM:135100 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Adrenal insufficiency, Hypogonadism, Abnormality of the hypothalamus-pituitary axis |
ORPHA:300298 |
Late-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Decreased circulating aldosterone level, Elevated serum 11-deo... |
ORPHA:556037 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory failure, Diabetes mellitus, Increased circulating procalcitonin concentration |
ORPHA:36238 |
Cholesteryl Ester Storage Disease |
|
Adrenal calcification, Adrenal insufficiency, Death in infancy |
OMIM:278000 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Death in infancy |
OMIM:614862 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
Adenohypophysitis |
|
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Abnormal size of pituitary... |
ORPHA:95512 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Respiratory failure, Hypoparathyroidism |
ORPHA:746 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Death in childhood |
OMIM:619847 |
Scedosporiosis |
|
Respiratory failure, Diabetes mellitus |
ORPHA:449280 |
Peripartum Cardiomyopathy |
|
Respiratory failure, Abnormality of thyroid physiology, Diabetes mellitus |
ORPHA:563 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
Xp21 Deletion Syndrome |
|
Primary adrenal insufficiency, Hypogonadotropic hypogonadism, Adrenal insufficiency |
ORPHA:261476 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating androstenedione concentration, Increased serum testosterone level, Adrenoco... |
ORPHA:90791 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Fatigable weakness of re... |
ORPHA:2912 |
Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Death in adolescence, Death in infancy, Respiratory insufficiency due ... |
OMIM:615512 |
Congenital Myopathy 10B, Mild Variant |
|
Respiratory failure |
OMIM:620249 |
Familial Hypoaldosteronism |
|
Increased circulating renin level, Decreased circulating aldosterone level, Adrenal insufficiency |
ORPHA:427 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure |
ORPHA:3226 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Respiratory failure |
OMIM:620296 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Pachygyria |
ORPHA:280210 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hypothyroidism, Hypogonadism, Diabetes mellitus, Adrenal insufficiency |
ORPHA:231222 |
Immunodeficiency, Common Variable, 10 |
|
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Abnormal re... |
OMIM:615577 |
Prolactinoma |
|
Delayed puberty, Anterior hypopituitarism, Decreased circulating ACTH concentration, Pituitary hy... |
ORPHA:2965 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hypohidrosis, Neonatal respiratory distress, Adrenal insufficiency |
OMIM:615510 |
Sheehan Syndrome |
|
Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hypothyroidism... |
ORPHA:91355 |
Boutonneuse Fever |
|
Respiratory failure |
ORPHA:83313 |
Early-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Decreased circulating aldosterone level, Elevated serum 11-deo... |
ORPHA:556030 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Dysgyria, Respiratory failure |
OMIM:620327 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure |
OMIM:617895 |
Infant Acute Respiratory Distress Syndrome |
|
Respiratory failure |
ORPHA:70587 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory failure, Neonatal death |
OMIM:616482 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure, Agyria, Polymicrogyria |
OMIM:616538 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:310200 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency |
ORPHA:977 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... |
ORPHA:98754 |
Avian Influenza |
|
Respiratory failure, Miscarriage |
ORPHA:454836 |
Dominant Beta-Thalassemia |
|
Delayed puberty, Hypoparathyroidism, Hypothyroidism, Hypopituitarism, Diabetes mellitus, Adrenal ... |
ORPHA:231226 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Respiratory failure, Death in childhood |
OMIM:617186 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in childhood |
OMIM:220110 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... |
ORPHA:98793 |
Poems Syndrome |
|
Abnormality of the endocrine system, Hypothyroidism, Primary adrenal insufficiency, Respiratory i... |
ORPHA:2905 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory failure, Neonatal respiratory distress, Neonatal death, Death in infancy |
OMIM:610921 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... |
ORPHA:177904 |
Idiopathic Pulmonary Hemosiderosis |
|
Respiratory failure |
ORPHA:99931 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... |
ORPHA:177901 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Respiratory failure |
ORPHA:444013 |
Distal Deletion 13Q |
|
Primary adrenal insufficiency |
ORPHA:1590 |
Proximal Spinal Muscular Atrophy |
|
Respiratory failure, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakn... |
ORPHA:70 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:609015 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:617053 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171430 |
Corticosterone Methyloxidase Type I Deficiency |
|
Increased circulating renin level, Decreased circulating aldosterone level |
OMIM:203400 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Respiratory failure |
ORPHA:98905 |
Kearns-Sayre Syndrome |
|
Primary adrenal insufficiency, Diabetes mellitus, Hypoparathyroidism |
OMIM:530000 |
Adrenoleukodystrophy |
|
Primary adrenal insufficiency, Hypogonadism |
OMIM:300100 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentration, Elevated ... |
OMIM:201810 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Enlarged pituitary gland, Anterior hypopituitarism, Diabetes insipidus, Pituitary hypothyroidism,... |
ORPHA:91350 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:218030 |
Oculocerebrofacial Syndrome, Kaufman Type |
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Respiratory failure |
ORPHA:2707 |
Asbestos Intoxication |
|
Respiratory failure |
ORPHA:2302 |
Tsh-Secreting Pituitary Adenoma |
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Delayed puberty, Female hypogonadism, Hyperhidrosis, Hypogonadism, Central adrenal insufficiency,... |
ORPHA:91347 |
Prader-Willi Syndrome |
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Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... |
ORPHA:739 |
Primary Ciliary Dyskinesia |
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Respiratory failure, Neonatal respiratory distress |
ORPHA:244 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc... |
ORPHA:308552 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Lissencephaly, Respiratory insufficiency, Pachygyria, Respiratory failure, Intercostal muscle wea... |
ORPHA:258 |
Adrenomyeloneuropathy |
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Primary adrenal insufficiency, Adrenocortical abnormality, Adrenocorticotropic hormone excess, Ad... |
ORPHA:139399 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Hypothyroidism, Primary adrenal insufficiency, Exocrine pancreatic insufficiency, Hyperthyroidism... |
OMIM:269200 |
Steinert Myotonic Dystrophy |
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Respiratory failure requiring assisted ventilation, Non-medullary thyroid carcinoma, Abnormality ... |
ORPHA:273 |
Beta-Thalassemia Major |
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Delayed puberty, Hypoparathyroidism, Hypothyroidism, Hypopituitarism, Diabetes mellitus, Adrenal ... |
ORPHA:231214 |
Myasthenia Gravis |
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Hashimoto thyroiditis, Primary adrenal insufficiency, Hyperthyroidism, Abnormal thymus morphology |
ORPHA:589 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Respiratory failure |
ORPHA:542323 |
Acute Interstitial Pneumonia |
|
Respiratory failure |
ORPHA:79126 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Respiratory failure |
ORPHA:3240 |
Craniopharyngioma |
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Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ... |
ORPHA:54595 |
Combined Oxidative Phosphorylation Deficiency 3 |
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Respiratory insufficiency, Respiratory failure, Death in childhood, Death in infancy |
OMIM:610505 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory failure, Death in childhood, Death in infancy |
OMIM:620278 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure |
ORPHA:88618 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Delayed puberty, Absence of secondary sex characteristics, Adrenocorticotropic hormone excess, Ad... |
ORPHA:289548 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:496641 |
Prader-Willi Syndrome |
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Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Precoci... |
OMIM:176270 |
Infantile Krabbe Disease |
|
Respiratory failure |
ORPHA:206436 |
Addison Disease |
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Delayed puberty, Hypoparathyroidism, Adrenal hypoplasia, Androgen insufficiency, Increased circul... |
ORPHA:85138 |
Mercury Poisoning |
|
Respiratory failure |
ORPHA:330021 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618329 |
Carney Triad |
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Adrenocortical adenoma, Pheochromocytoma, Adrenal overactivity, Paraganglioma |
ORPHA:139411 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Delayed puberty, Absence of secondary sex characteristics, Adrenocorticotropic hormone excess, Ad... |
ORPHA:168558 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure |
OMIM:617301 |
Tbck-Related Intellectual Disability Syndrome |
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Decreased response to growth hormone stimulation test, Respiratory insufficiency, Hypothyroidism,... |
ORPHA:488632 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Fatigable weakness of respiratory muscles, Respiratory insufficiency, Respiratory insufficiency d... |
ORPHA:365 |
Late-Onset Isolated Acth Deficiency |
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Hypoparathyroidism, Decreased circulating ACTH concentration, Adrenocorticotropic hormone deficie... |
ORPHA:199299 |
Osteopetrosis, Autosomal Recessive 5 |
|
Stillbirth, Respiratory failure |
OMIM:259720 |
Acute Adrenal Insufficiency |
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Delayed puberty, Adrenal hypoplasia, Androgen insufficiency, Increased circulating renin level, P... |
ORPHA:95409 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum... |
OMIM:202010 |
Leigh Syndrome |
|
Respiratory failure |
ORPHA:506 |
Congenital Fiber-Type Disproportion Myopathy |
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Respiratory failure, Intercostal muscle weakness, Respiratory insufficiency due to muscle weaknes... |
ORPHA:2020 |
3-Methylglutaconic Aciduria, Type Viii |
|
Respiratory failure, Respiratory arrest, Neonatal death, Death in infancy |
OMIM:617248 |
Peroxisome Biogenesis Disorder 4B |
|
Adrenal insufficiency |
OMIM:614863 |
Pulmonary Alveolar Microlithiasis |
|
Respiratory insufficiency, Respiratory failure, Fatigable weakness |
ORPHA:60025 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Primary adrenal insufficiency, Decreased circulating cortisol level, Male hypogonadism |
ORPHA:139396 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Increased circulating ACTH level, Increased circulating androstenedione concentration, Premature ... |
ORPHA:90794 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:555874 |
46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Absence of secondary sex characteristics, Increased circulating gonadotropin lev... |
ORPHA:251510 |
Abetalipoproteinemia |
|
Hypothyroidism, Respiratory failure |
ORPHA:14 |
Arterial Tortuosity Syndrome |
|
Respiratory failure, Cardiorespiratory arrest |
ORPHA:3342 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Death in childhood |
OMIM:618252 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:610913 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Respiratory insufficiency, Respiratory failure, Death in infancy |
OMIM:252010 |
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 |
Lethal Acantholytic Erosive Disorder |
|
Respiratory failure |
ORPHA:158687 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Central adrenal insufficiency, Decreased response to growth hormone stimulation test |
OMIM:616007 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:618278 |
Bloom Syndrome |
|
Respiratory failure, Diabetes mellitus |
ORPHA:125 |
Malignant Atrophic Papulosis |
|
Respiratory failure |
ORPHA:679 |
Generalized Glucocorticoid Resistance Syndrome |
|
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Adrenal hyperp... |
ORPHA:786 |
Geleophysic Dysplasia 3 |
|
Respiratory failure |
OMIM:617809 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Chronic pancreatitis, Adrenal insufficiency |
OMIM:307030 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoparathyroidism, Hypothyroidism, Exocri... |
ORPHA:699 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... |
ORPHA:293978 |
Radio-Renal Syndrome |
|
Respiratory failure |
ORPHA:3015 |
Riddle Syndrome |
|
Respiratory failure, Neonatal asphyxia |
ORPHA:420741 |
Fraser Syndrome 2 |
|
Respiratory failure, Hypoplasia of the thymus |
OMIM:617666 |
D-Bifunctional Protein Deficiency |
|
Polymicrogyria, Primary adrenal insufficiency |
OMIM:261515 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Pheochromocytoma, Parathyroid hyperplasia, Carcinoid tumor, Pituitary... |
ORPHA:805 |
Nocardiosis |
|
Respiratory failure, Abnormality of the adrenal glands, Thyroiditis |
ORPHA:31204 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Respiratory failure, Death in infancy |
OMIM:300868 |
Nijmegen Breakage Syndrome |
|
Respiratory failure, Abnormality of neuronal migration |
ORPHA:647 |
Listeriosis |
|
Respiratory failure, Miscarriage |
ORPHA:533 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory failure, Hyperhidrosis |
ORPHA:340 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:79138 |
Myhre Syndrome |
|
Respiratory insufficiency, Respiratory failure |
OMIM:139210 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:613658 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Respiratory failure, Miscarriage, Lissencephaly |
ORPHA:96334 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory failure |
ORPHA:2554 |
Crimean-Congo Hemorrhagic Fever |
|
Parotitis, Acute pancreatitis, Inappropriate antidiuretic hormone secretion, Hyperhidrosis, Orchi... |
ORPHA:99827 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Precocious puberty, Primar... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Precocious puberty, Primar... |
ORPHA:363958 |
Joubert Syndrome 21 |
|
Respiratory failure |
OMIM:615636 |
Pallister-Hall Syndrome |
|
Respiratory insufficiency, Pituitary hypothyroidism, Adrenal hypoplasia, Thyroid hypoplasia, Panh... |
ORPHA:672 |
Lysosomal Acid Lipase Deficiency |
|
Primary adrenal insufficiency, Adrenal calcification |
ORPHA:275761 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Decreased c... |
OMIM:201750 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory failure |
ORPHA:2556 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Respiratory failure, Abnormal circulating calcium-phosphate regulating hormone concentration |
ORPHA:2636 |
Costello Syndrome |
|
Respiratory insufficiency, Respiratory failure |
OMIM:218040 |
Microphthalmia, Syndromic 2 |
|
Hypothyroidism, Adrenal insufficiency |
OMIM:300166 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Respiratory failure, Simplified gyral pattern, Polymicrogyria |
ORPHA:500150 |
Niemann-Pick Disease Type C |
|
Respiratory insufficiency, Respiratory failure |
ORPHA:646 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory failure |
ORPHA:79404 |
Otopalatodigital Syndrome, Type Ii |
|
Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:304120 |
Acute Liver Failure |
|
Adrenal insufficiency |
ORPHA:90062 |
Autosomal Recessive Polycystic Kidney Disease |
|
Respiratory failure |
ORPHA:731 |
Orofaciodigital Syndrome Type 4 |
|
Primary adrenal insufficiency |
ORPHA:2753 |
Ulbright-Hodes Syndrome |
|
Respiratory failure, Maternal diabetes |
ORPHA:3404 |