Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Cerebral Sarcoma |
|
Neoplasm, Fibrosarcoma |
OMIM:117600 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Li-Fraumeni Syndrome 2 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Enchondromatosis, Multiple, Ollier Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:166000 |
Melanoma-Pancreatic Cancer Syndrome |
|
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... |
OMIM:606719 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma |
OMIM:135290 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Multiple Enchondromatosis, Maffucci Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:614569 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Large for gestational age, Truncal obesity |
OMIM:240900 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:610021 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Truncal obesity, Large for gestational age, Nonketotic hypoglycemia, Hy... |
ORPHA:293964 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Large for gestational age |
OMIM:601820 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Stillbirth, Eczema, Death in adolescence, Neonatal death, Pulmonary arteria... |
OMIM:619751 |
Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Decreased body weight |
ORPHA:314811 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Maffucci Syndrome |
|
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... |
ORPHA:163634 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Acquired Ichthyosis |
|
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma |
ORPHA:454 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
Ollier Disease |
|
Chondrosarcoma, Neoplasm, Lymphangioma, Hemangioma, Multiple enchondromatosis, Sarcoma, Visceral ... |
ORPHA:296 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... |
OMIM:254210 |
Tracheopathia Osteoplastica |
|
Dyspnea, Wheezing, Recurrent pneumonia, Cough |
OMIM:189961 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... |
OMIM:605809 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ... |
ORPHA:70589 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia |
OMIM:262400 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
Pleuropulmonary Blastoma |
|
Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma |
OMIM:601200 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ptosis |
OMIM:300580 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure |
ORPHA:1832 |
Large Congenital Melanocytic Nevus |
|
Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin |
ORPHA:626 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Failure to thrive in infancy |
OMIM:232700 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... |
ORPHA:324575 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Fibroma, Benign neoplasm o... |
ORPHA:2591 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Failure to thrive |
ORPHA:67046 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia |
OMIM:616113 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Nasolacrimal Duct Cyst |
|
Abnormal lacrimal sac morphology, Episodic respiratory distress, Stridor, Chronic irritative conj... |
ORPHA:141083 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular schwannoma, Carcinoma |
OMIM:603641 |
Mast Cell Sarcoma |
|
Sarcoma |
ORPHA:66661 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Intrauterine growth retardation, Neonatal death |
OMIM:301021 |
Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... |
ORPHA:220460 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy |
OMIM:604377 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... |
ORPHA:60032 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Nonproductive cough, Increased circulating lactate dehydrogena... |
ORPHA:454836 |
Multiple Carboxylase Deficiency |
|
Respiratory distress, Abnormal enzyme/coenzyme activity, Skin rash, Tachypnea, Decreased biotinid... |
ORPHA:148 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... |
ORPHA:181393 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Acute infectious pneumonia, Respiratory failure requiring assiste... |
ORPHA:264675 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
ORPHA:79665 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Bilateral ptosis, Recurrent pneumonia, Ventilato... |
ORPHA:254875 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... |
ORPHA:1302 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Pleural Mesothelioma |
|
Respiratory distress, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system physiology |
ORPHA:50251 |
Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... |
OMIM:175100 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Elevated hepatic transaminase, Death in infancy, Neonatal respiratory distress |
OMIM:615042 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... |
ORPHA:1303 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... |
ORPHA:91359 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Epicanthus |
OMIM:614741 |
Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Neoplasm of the liver, Sarcoma, Renal neoplasm |
ORPHA:69077 |
Osteogenic Sarcoma |
|
Osteosarcoma, Retinoblastoma |
OMIM:259500 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect |
OMIM:614399 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis |
OMIM:619466 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Cough, Elevated hepatic transaminas... |
OMIM:613490 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ovarian neoplasm, Neoplasm of the central nervous system, Neoplasm of t... |
ORPHA:83469 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, H... |
OMIM:262190 |
Tularemia |
|
Respiratory distress, Conjunctivitis, Skin rash, Cough, Pneumonia, Pleural effusion, Cutaneous ab... |
ORPHA:3392 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Failure to thrive in infancy |
ORPHA:6 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Cough, Tachypnea |
OMIM:263000 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:26792 |
Familial Nasal Acilia |
|
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea |
ORPHA:922 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Palpebral edema, Upper airway obstruction |
ORPHA:100057 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Death in infancy, Neona... |
OMIM:610921 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Laryngeal Web, Familial |
|
Respiratory distress, Stridor |
OMIM:150360 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Short palpebral fissure, Absent eyebrow, Upslanted palpebral fissure, Thin ... |
ORPHA:2707 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypoglycemia, Failure to thrive |
OMIM:617872 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Eczema, Keratoconjunctivitis, Tachypnea, Perioral eczema |
ORPHA:79242 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood, Intrauterine growth retardation |
OMIM:615597 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... |
ORPHA:70588 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Downslanted palpebral fissures, Epicanthus, Dyspnea, Respiratory failure |
ORPHA:2759 |
Werner Syndrome |
|
Neoplasm, Acral lentiginous melanoma, Ovarian neoplasm, Thyroid carcinoma, Renal neoplasm, Cutane... |
ORPHA:902 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma |
OMIM:180200 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Intrauterine growth retardation, Respiratory distress |
ORPHA:261304 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... |
ORPHA:36238 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... |
ORPHA:44890 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... |
ORPHA:254864 |
Pneumocystosis |
|
Chronic oral candidiasis, Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial... |
ORPHA:723 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Elevated circulating alkaline phosphatase concentration |
OMIM:618188 |
Yellow Nail Syndrome |
|
Neoplasm, Renal neoplasm, Neoplasm of the lung, Biliary tract neoplasm, Sarcoma |
ORPHA:662 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia |
OMIM:607398 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... |
OMIM:610913 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, Aspiration pneumonia, Downslanted palpebral fissures, Telecanthus, R... |
ORPHA:314655 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cough, Pleural effusion, Pulmonary arterial ... |
ORPHA:2414 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... |
ORPHA:733 |
Acute Lung Injury |
|
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:178320 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory insufficiency, Nocturnal hypoventilation, Dyspnea, Stridor, Ptosis |
OMIM:211530 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Downslanted palpebral fissures, Elevated hepatic transaminase, Respiratory distress |
OMIM:608799 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Sleep apnea, Abnormal enzyme/coenzyme activity, Respiratory insufficiency, ... |
ORPHA:98915 |
Desmoid Tumor |
|
Desmoid tumors, Intestinal polyposis, Neoplasm of the skin, Fibroma |
ORPHA:873 |
Propionic Acidemia |
|
Hypoglycemia |
ORPHA:35 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Intrauterine growth retardation |
OMIM:616733 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Episodic tachypnea, Abnormal enzyme/coenzyme activity, Apneic episodes in i... |
ORPHA:348 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Cough, Upper airway obstruction, Dyspnea, Stridor |
ORPHA:142 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Decreased liver function, Death in childhood, Exertional dyspnea, Respirato... |
OMIM:220110 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Crackles, Wheezing, Tac... |
OMIM:610978 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Downslanted palpebral fissures, Epicanthus, Respiratory distress, Sparse eyebrow |
OMIM:606164 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation |
ORPHA:596 |
Stt3B-Cdg |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:370924 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia |
OMIM:606763 |
Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Respiratory distress, Paradoxical respiration |
OMIM:620011 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Short palpebral fissure, Sparse eyelashes, Upslanted palpebral fissure, Hoo... |
OMIM:612863 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonatal hypogly... |
ORPHA:552 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Diffuse leiomyomatosis, Fibrosarcoma |
ORPHA:314478 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Tuberous Sclerosis 2 |
|
Optic nerve glioma, Subependymal nodules, Subungual fibromas, Cortical tubers, Renal angiomyolipo... |
OMIM:613254 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Failure to thrive |
OMIM:614736 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia |
ORPHA:2140 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Telecanthus, Respiratory distress |
OMIM:617102 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Eczematoid dermatitis, Skin rash, Hyperventilation, Conjunctivitis, ... |
ORPHA:79241 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Decreased liver function, Hepatic failure, Respiratory insufficiency, Eleva... |
ORPHA:367 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Glioma, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteosarcoma, Leiomy... |
ORPHA:790 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Abnormal enzyme/coenzyme activity, Respiratory insufficiency, Increased cir... |
ORPHA:308552 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Neonatal death, Death in infancy |
OMIM:300219 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:89844 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Thick eyebrow, Upslanted palpebral fissure, Telecanthus, Epicanthus |
OMIM:619383 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Telecanthus, Respiratory distress, Jaundice, Neonatal death |
OMIM:231680 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dyspnea, Pulmo... |
OMIM:265120 |
Slc35A1-Cdg |
|
Respiratory distress, Hypoxemia, Pneumonia |
ORPHA:238459 |
Infant Acute Respiratory Distress Syndrome |
|
Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Upslanted palpebral fissure, Downslanted palpebral fissures, Epicanthus, Te... |
OMIM:610536 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Testicular neoplasm, Sarcoma, Neoplasm of the breast, Neoplasm of the thyroid gland |
ORPHA:457059 |
Moebius Syndrome |
|
Respiratory distress, Epicanthus, Congenital fibrosis of extraocular muscles |
OMIM:157900 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Inflammatory abnormality of the skin, Episodic tachypnea, Tachypnea, Elevat... |
ORPHA:26793 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Short palpebral fissure, Tracheomalacia, Telecanthus, Neonatal respiratory ... |
OMIM:217980 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Respiratory insufficiency, Death in adolescence, Death in infancy, Respirat... |
OMIM:615512 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress |
OMIM:618426 |
Terminal Osseous Dysplasia |
|
Fibroma |
OMIM:300244 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Intrauterine growth retardation |
OMIM:619793 |
Diaphanospondylodysostosis |
|
Respiratory distress, Tracheomalacia, Respiratory insufficiency, Epicanthus, Intrauterine growth ... |
OMIM:608022 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Death in childhood, Telecanthus, Epicanthus, Long eyelashes, Synophrys, Rec... |
OMIM:617303 |
Mastocytosis |
|
Acute leukemia, Sarcoma, Chronic leukemia |
ORPHA:98292 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Upslanted palpebral fissure, Long palpebral fissure, Telecanthus, Epicanthus |
ORPHA:438216 |
Congenital Enterovirus Infection |
|
Respiratory distress, Skin rash, Hepatic failure, Hepatitis, Pleural effusion |
ORPHA:292 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Decreased liver function, Apnea, Central hypoventilation, Bilateral ptosis,... |
ORPHA:70474 |
Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Abnormal nasal mucus secretion, Chronic sinusitis, Upper ai... |
ORPHA:137914 |
Agnathia-Otocephaly Complex |
|
Downslanted palpebral fissures, Respiratory distress, Tracheomalacia |
OMIM:202650 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Prolonged neonatal jaundice |
ORPHA:226313 |
Farber Disease |
|
Respiratory distress, Abnormal enzyme/coenzyme activity, Hepatic failure, Respiratory insufficien... |
ORPHA:333 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia |
OMIM:617180 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Hepatic failure, Neonatal death, Intrauterine growth retardation |
OMIM:608013 |
Congenital Myasthenic Syndrome |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Intermittent episodes of ... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Intermittent episodes of ... |
ORPHA:98914 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Blepharospasm |
ORPHA:98805 |
Oromandibular Dystonia |
|
Respiratory distress, Blepharospasm |
ORPHA:93958 |
Congenital Tracheomalacia |
|
Apnea, Tracheomalacia, Decreased peak expiratory flow, Respiratory insufficiency, Neonatal respir... |
ORPHA:95430 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pituitary adenoma, Parathyroid adenoma, Carcinoid tumor, Renal angiomyolipoma, Pancreatic endocri... |
OMIM:610755 |
Milroy Disease |
|
Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy |
OMIM:184260 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Histiocytoma, Osteosarcoma, Fibrosarcoma |
OMIM:112250 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress |
ORPHA:79312 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Epicanthus, Pulmonary arterial hypertension |
ORPHA:2519 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Sleep apnea, Abnormal enzyme/coenzyme activity, Respiratory insufficiency, ... |
ORPHA:365 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Elevated hepatic transaminase |
ORPHA:329178 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Skin rash, Nonproductive cough, Maculopapular exanthema, Fulminant hepatiti... |
ORPHA:319213 |
Tetrasomy 5P |
|
Respiratory distress, Epicanthus, Pulmonary arterial hypertension, Upslanted palpebral fissure |
ORPHA:3309 |
Neurofibromatosis Type 1 |
|
Neoplasm, Chronic myelogenous leukemia, Plexiform neurofibroma, Pheochromocytoma, Multiple lipoma... |
ORPHA:636 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress |
ORPHA:544503 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Eczematoid dermatitis, Inflammatory abnormality of the skin, Recurrent skin... |
ORPHA:37042 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Respiratory distress |
ORPHA:990 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Episodic respiratory distress, Episodic hypoventilation, Death in infancy |
OMIM:301790 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Lower eyelid edema, Epicanthus, Dyspnea, Pulmonary arterial hypertension |
ORPHA:363705 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Palpebral edema |
ORPHA:50810 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Pustule, Skin rash |
OMIM:612852 |
Auriculocondylar Syndrome |
|
Respiratory distress, Snoring, Obstructive sleep apnea, Ptosis |
ORPHA:137888 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Bilateral ptosis, Restrictive v... |
OMIM:164310 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Acute hepatic failure, Cough, Elevated hepatic transaminase, Restrictive ve... |
ORPHA:537 |
Nocardiosis |
|
Respiratory distress, Nonproductive cough, Pneumothorax, Dacryocystitis, Respiratory failure, Pne... |
ORPHA:31204 |
Tetanus |
|
Respiratory distress, Tachypnea |
ORPHA:3299 |
Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus |
OMIM:616026 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Skin rash, Recurrent skin infections, Tachypnea, Hepatitis, Pneu... |
ORPHA:36234 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Abnormal enzyme/coenzyme activity |
ORPHA:206436 |
Mogs-Cdg |
|
Respiratory distress, Apnea, Short palpebral fissure, Long eyelashes, Hypoventilation |
ORPHA:79330 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Asthma, Inflammatory abnormality of the skin, Eczema, Chronic hepatitis, Pu... |
ORPHA:3260 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension |
OMIM:619272 |
Cowden Syndrome |
|
Papilloma, Neoplasm, Lipoma, Breast carcinoma, Neoplasm of the central nervous system, Melanoma, ... |
ORPHA:201 |
Mgat2-Cdg |
|
Downslanted palpebral fissures, Long eyelashes, Respiratory distress, Reduced level of N-acetylgl... |
ORPHA:79329 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Upslanted palpebral fissure, Dacryocystitis, Narrow palpebral fissure, Naso... |
ORPHA:1051 |
Q Fever |
|
Respiratory distress, Maculopapular exanthema, Cough, Elevated hepatic transaminase, Hepatitis, P... |
ORPHA:781 |
Monosomy 22 |
|
Schwannoma, Sarcoma, Meningioma, Gonadal neoplasm |
ORPHA:96123 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Epicanthus, Aspiration |
OMIM:618733 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Downslanted palpebral fissures, Respiratory distress, Ptosis |
OMIM:123790 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma |
OMIM:619750 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Downslanted palpebral fissures, Respiratory distress, Ptosis |
ORPHA:1555 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Airway obstruction, Stridor, Telecanthus, Epicanthus, Long eyelashes, Pulmo... |
ORPHA:505248 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Pituitary null cell adenoma, Pituitary adenoma, P... |
ORPHA:276152 |
Renal Dysplasia-Limb Defects Syndrome |
|
Respiratory distress, Intrauterine growth retardation, Neonatal death, Pneumothorax, Respiratory ... |
OMIM:266910 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Decreased methylmalonyl-CoA mutase activity |
OMIM:251110 |
Lymphatic Malformation 7 |
|
Respiratory distress |
OMIM:617300 |
Radio-Renal Syndrome |
|
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure |
ORPHA:3015 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Eczema, Downslanted palpebral fissures, Epicanthus, Superficial dermal peri... |
ORPHA:83617 |
Listeriosis |
|
Unusual skin infection, Respiratory distress, Miscarriage, Conjunctivitis, Pustule, Respiratory f... |
ORPHA:533 |
Pulmonary Hypertension, Primary, 3 |
|
Dyspnea, Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary... |
OMIM:615343 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Decreased methylmalonyl-CoA mutase activity |
OMIM:251100 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Absent eyebrow, Sparse eyebrow, Sparse eyelashes, Eczema, Absent eyelashes,... |
OMIM:305100 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Intrauterine growth retardation, Short palpebral fissure, Long eyelashes, D... |
OMIM:224690 |
Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia |
OMIM:156550 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress |
OMIM:251000 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Short palpebral fissure, Cardiorespiratory arrest, Dyspnea, Blepharophimosi... |
ORPHA:3342 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Inflammatory abnormality of the skin, Skin rash, Symblepharon, Trichiasis, ... |
ORPHA:95455 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Intrauterine growth retardation, Recurrent pneumonia |
OMIM:616271 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
Sepsis In Premature Infants |
|
Decreased liver function, Abnormal respiratory system physiology, Abnormal mucociliary clearance,... |
ORPHA:90051 |
Coccidioidomycosis |
|
Respiratory distress, Folliculitis, Skin rash, Pleural empyema, Cough, Pruritus, Pneumonia, Exuda... |
ORPHA:228123 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Asthma, Recurrent pneumonia, Neonatal respiratory distress, Pulmonary arter... |
ORPHA:209905 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Elevated hepatic transaminase, Neonatal respiratory distress |
OMIM:260400 |
Japanese Encephalitis |
|
Respiratory distress, Eyelid fasciculation, Irregular respiration, Respiratory paralysis, Abnorma... |
ORPHA:79139 |
Isolated Arrhinia |
|
Respiratory distress, Eyelid coloboma |
ORPHA:1134 |
Cocaine Intoxication |
|
Respiratory distress, Wheezing, Tachypnea, Increased circulating lactate dehydrogenase concentrat... |
ORPHA:90068 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea, Abnormal enzyme/coenzyme activity, Elevated hepatic transaminase, Pt... |
ORPHA:17 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Short palpebral fissure |
OMIM:300968 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Conjunctivitis, Upper eyelid edema, Thin eyebrow, Sparse medial eyebrow, Hi... |
OMIM:616268 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Crackles, Elevated pulmonary artery pressure, Wheezing, Tachypnea,... |
ORPHA:1329 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Leptospirosis |
|
Respiratory distress, Skin rash, Cough, Hepatitis, Elevated serum transaminases during infections... |
ORPHA:509 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Inspiratory stridor |
ORPHA:100050 |
Meige Disease |
|
Angiosarcoma |
ORPHA:90186 |
Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma |
ORPHA:33001 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Thin eyebrow, Apnea, Aspiration |
ORPHA:2131 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Episodic respiratory distress, Hepatic failure, Abnormality of Krebs cycle metabolism, Hyp... |
ORPHA:255210 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect |
OMIM:183900 |
Adnp Syndrome |
|
Respiratory distress, Slanting of the palpebral fissure, Long palpebral fissure, Bilateral ptosis... |
ORPHA:404448 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea |
OMIM:115197 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Cough, Elevated hepatic transaminase, Respiratory failure, Pneumonia, Pleur... |
ORPHA:340 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Intrauterine growth retardation, Almond-shaped palpebral fissure, Upslanted... |
ORPHA:177907 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Esophageal neoplasm, Uterine neoplasm, Fibroma, Tracheobronchial leiomyom... |
ORPHA:1018 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Jaundice, Pulmonary embolism, Pulmonary arterial hypertension, Intrauterine... |
ORPHA:79282 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Lipoma, Thyroid carcinoma, Parathyroid adenoma, Nephroblastoma, Testicular neoplasm, Fibroma, Ren... |
ORPHA:99880 |
Osteoglophonic Dysplasia |
|
Downslanted palpebral fissures, Shallow orbits, Respiratory distress |
OMIM:166250 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Elevated hepatic transaminase, Central sleep apnea, Ptosis |
OMIM:615273 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
Parathyroid Carcinoma |
|
Lipoma, Thyroid carcinoma, Parathyroid carcinoma, Nephroblastoma, Testicular neoplasm, Fibroma, R... |
ORPHA:143 |
Cryptococcosis |
|
Respiratory distress, Cough, Pleural effusion, Pneumonia, Dyspnea |
ORPHA:1546 |
Campomelic Dysplasia |
|
Respiratory distress, Apnea, Short palpebral fissure, Tracheomalacia, Stridor, Tracheobronchomala... |
OMIM:114290 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
Esophageal Atresia |
|
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... |
ORPHA:1199 |
Tuberous Sclerosis Complex |
|
Subependymal nodules, Pituitary adenoma, Cortical tubers, Parathyroid adenoma, Carcinoid tumor, P... |
ORPHA:805 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Tracheomalacia, Respiratory insufficiency, Repeated pneumothoraces, Restric... |
ORPHA:536467 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Recurrent skin infections, Pyoderma, Stridor, Pneumonia, Pneumothorax, Dysp... |
ORPHA:79404 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, Pituitary prolactin cell ad... |
ORPHA:652 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Long palpebral fissure, Epicanthus, Synophrys, Nasal flaring |
ORPHA:466943 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Thick eyebrow, Broad eyebrow, Downslanted palpebral fissures, Epicanthus, L... |
OMIM:180849 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Abnormal nasolacrimal system morphology, Abnormal eyelash morphology, Dyspn... |
ORPHA:2556 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure |
ORPHA:2554 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:210122 |
Aicardi Syndrome |
|
Lipoma, Hepatoblastoma, Teratoma, Hemangioma, Metastatic angiosarcoma, Carcinoma |
OMIM:304050 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Upper airway obstruction, Dyspnea |
ORPHA:141127 |
Ethylene Glycol Poisoning |
|
Abnormal pattern of respiration, Episodic respiratory distress, Tachypnea |
ORPHA:31826 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Respiratory acidosis, Sparse eyebrow, Sparse eyelashes, Neonatal respirator... |
OMIM:614748 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Downslanted palpebral fissures, Epicanthus, Respiratory distress |
OMIM:617088 |
Plague |
|
Respiratory distress, Skin rash, Acute infectious pneumonia, Erythema nodosum, Chapped lip, Conju... |
ORPHA:707 |
Scimitar Syndrome |
|
Respiratory distress, Pneumothorax, Pulmonary arterial hypertension, Cough |
ORPHA:185 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Asthma, Intrauterine growth retardation |
ORPHA:3206 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea |
ORPHA:2330 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Shallow orbits, Recurrent pneumonia |
ORPHA:798 |
Aortic Arch Interruption |
|
Respiratory distress, Exertional dyspnea, Tachypnea |
ORPHA:2299 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Short palpebral fissure, Upslanted palpebral fissure, Downslanted palpebral... |
ORPHA:480880 |
Doors Syndrome |
|
Bilateral ptosis, Epicanthus, Aspiration pneumonia, Respiratory distress |
ORPHA:79500 |
Eisenmenger Syndrome |
|
Respiratory distress, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hypertension, I... |
ORPHA:97214 |
Gitelman Syndrome |
|
Respiratory distress |
ORPHA:358 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Optic nerve glioma, Hemangioma, Subcutaneous neurofibromas, Ossifying fibroma, Lisch nodules, Neu... |
ORPHA:363700 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Severe intrauterine growth retardation, Pneumothorax, Respiratory failure |
ORPHA:3404 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Downslanted palpebral fissures, Telecanthus, Recurrent pneumonia, Intrauter... |
ORPHA:99646 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Intrauterine growth retardation, Thick eyebrow, Upslanted palpebral fissure... |
ORPHA:508488 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress |
OMIM:306955 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:2255 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Paroxysmal dyspnea, Apneic episodes in infancy, Respiratory failure requiri... |
ORPHA:99125 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Pulmonary arterial hypertension, Elevated alkaline phosphatase of bone origin |
ORPHA:51608 |
Pmm2-Cdg |
|
Respiratory distress, Upslanted palpebral fissure, Aspiration pneumonia, Epicanthus, Elevated hep... |
ORPHA:79318 |
Alström Syndrome |
|
Respiratory distress, Chronic pulmonary obstruction, Hepatic failure, Elevated gamma-glutamyltran... |
ORPHA:64 |